22q11.21CNV Type: Deletion-Duplication
Largest CNV size: 2799900 bp
Statistics Box:
Number of Reports: 111
Number of Reports: 111
Summary Information
Duplications at the 22q11.21 locus have been observed more frequently than deletions in autistic individuals. Deletions within the 22q11.2 locus can lead to DiGeorge Syndrome (DGS)/Velocardiofacial Syndrome (VCFS), while duplications appear to confer a milder, more variable phenotype.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Structural variation of chromosomes in autism spectrum disorder.
Deletion-Duplication
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
De novo rates and selection of large copy number variation.
Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Duplication
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
High rate of disease-related copy number variations in childhood onset schizophrenia.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion-Duplication
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion-Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
Dosage of copy number variation at 22q11.2 mediates changes in cognition, social function and brain structure in autism spectrum disorder.
Deletion-Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion-Duplication
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Deletion
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Duplication
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Duplication
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion-Duplication
Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
Deletion
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Duplication
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescen...
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion-Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion-Duplication
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion-Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Deletion
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees
Duplication
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion-Duplication
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Deletion-Duplication
Diagnostic yield of patients with undiagnosed intellectual disability
Deletion
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Duplication
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ahn_13_SCZ_discovery_cases
Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs
126
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.
N/A
N/A
2985000
5
0
5
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
3154118
3
0
3
alhazmi_22_ASD_discovery_cases
Saudi ASD probands with copy number variation in chromosome 22.
15
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Range, 3-12 yrs.
80.0% Male
248672
3
2
5
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
36885
0
1
1
bartnik_12_EP_discovery_cases
102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
102
Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
NA
NA
2397000
1
0
1
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
3000000
1
1
2
breckpot_16_ID/catatonia_discovery_cases
Adult psychiatric patients with intellectual disability and catatonia recruited from an inpatient unit in the St-Camillus Psychiatric Hospital (Bierbeek, Belgium) from January 2005-January 2015
15
Cases diagnosed with intellectual disability (ID) and catatonia (DSM-5 criteria)
Adult
N/A
3000000
0
1
1
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
2600000
0
1
1
calderoni_20_ASD_discovery_cases
Females referred consecutively to the Autism Spectrum Disorders Unit of the Children Neuropsychiatry Hospital between 2015 and 2016
90
Clinical diagnosis of ASD based on DSM-5 criteria
Range, 21 mos.-17 yrs.
Female
686094
0
1
1
ceylan_18_DD/ID_discovery_cases
Patients examined at the department of genetics between May 2016 and April 2017
124
Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
Range, 15 days-17 years
58.87% Male
2700000
1
4
5
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
2209424
1
1
2
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
3105489
4
1
5
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
3292200
3
1
4
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
129050
0
4
4
chen_14_ASD/ID_discovery_cases
13-year-old female patient with an apparently balanced reciprocal translocation and a karyotype of 46,XX,t(8;12)(q24.3;p11.2)dn.
1
Diagnosis of ASD (according to DSM-IV criteria); case also presented with intellectual disability (IQ of 50)
13 yrs.
Female
367000
0
1
1
chen_16_ASD_discovery_cases
ASD probands screened for 22q11.2 CNVs
335
Cases diagnosed with ASD based on DSM-IV and confirmed by ADI-R. Autistic symptoms reported by parents on Social Communication Questionnaire (SCQ) and Social Responsive Scale (SRS). Cognitive function assessed with Wechsler Intelligence Scale for Children-Third Edition (WISC-III) and Wisconsin Card Sorting Test.
Mean age, 9.39 4.04 yrs.
89.3% Male
2970000
1
1
2
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
2971000
1
2
3
chong_14_DD/ID/ASD/MCA_discovery_cases
Patients referred to clinical genetics service and recruited for CMA application study
105
Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
N/A
N/A
2500000
2
2
4
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
2200000
0
2
2
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
258557
0
1
1
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
2747097
0
1
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
129050
1
4
5
dale_17_ASD_discovery_cases
A 10-year-old male ASD proband with a double duplication of the 22q11.21 locus whose parents and two siblings each have a single 22q11.21 duplication
1
Case diagnosed with ASD and learning disability
10 years
Male
2730000
0
2
2
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
1088396
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
2520573
8
0
8
du_21_ASD/DD/ID/EP_discovery_cases
Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
511
Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
Range, 3 mos.-35 yrs. (median age, 3 yrs.)
73.6% Male
2950533
2
1
3
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
29000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
2578170
5
23
28
fan_19_ASD_discovery_cases
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
401
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Range, 1 year 5 months-17 years
83.54% Male
2882000
2
0
2
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
2041941
0
2
2
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
2991275
3
1
4
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
NA
0
1
1
gillentine_16_ASD/ADHD/DD/ID_discovery_cases
18 patients from 17 families evaluated by providers at Texas Children's Hospital and tested by clinical chromosomal microarray (CMA) by the Baylor Genetics Laboratory (BGL) or Signature Genomic Laboratory for CHRNA7 duplications
18
7/17 cases met criteira for ASD based on clinical impression; 11/18 cases presented with ADHD. Cognitive and behavioral testing included the Differential Ability Scales, Second Edition (DAS-II), the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavioral Assessment for Children, Second Edition (BASC-2).
Average, 9.9 years
66.67% Male
2332546
1
0
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
2534025
2
20
22
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
1270000
175
87
262
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
3150000
5
0
5
girirajan_13a_DD_discovery_cases
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
31518
Developmental delay
NA
NA
3150000
96
0
96
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
779156
0
11
11
glessner_09_ASD_discovery_cases
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
859
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Range, 2-21
81.8% Male
7682
0
5
5
glessner_09_ASD_replication_cases
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
1336
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Mean, 9.2 5.3
78.7% Male
7682
0
4
4
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
299875
0
1
1
guilherme_14_DD/EP/ASD_discovery_cases
Patients with deletions in ring chromosome 22
5
Four cases with developmental delay (with or without epilepsy/seizures); one case with autism (DSM-IV criteria) and epilepsy
Range, 1-24 yrs.
40% Male
1400000
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
3107380
8
2
10
hodge_13_DD/ID/ASD_discovery_cases
Previously unpublished patients with 2q23.1/MBD5 microdeletions from the Mayo Clinic Cytogenetics Laboratory (cases 1-8), the Greenwood Genetic Center (cases 9-12), Pathology Associates Medical Laboratories (cases 13-14), Virginia Commonwealth University (case 15), Fullerton Genetics Center (case 16), and Boston Children's Hospital (case 17)
17
Phenotypes typically associated with 2q23.1 microdeletion syndrome (developmental delay/intellectual disability (DD/ID), ASD or autistic features, etc.). Two cases with bipolar disorder, one case with behavioral regression.
Range, <1 yr.-44 yrs.
52.94% Male
773000
1
0
1
hu_22_ASD_discovery_cases
Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.
573
Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.
Range, 16 mos.-12.8 yrs. (mean, 3.6 yrs)
80.1% Male
1978440
0
1
1
hu_23_ASD_discovery_cases
Patients diagnosed with ASD in the Department of Child Healthcare, Children's Hospital of Fudan University, from June 2017 to March 2019 for genetic testing.
160
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria.
Mean age, 3.24 +/- 1.27 yrs.
78.12% Male
95101
0
1
1
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
2533487
0
1
1
jiao_19_EP/DD/ID_discovery_cases
Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
220
Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
Range, 1 mo.- 14 yrs.
60.45% Male
2540000
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
3211541
104
47
151
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
118619
1
1
2
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
3200000
1
1
2
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
104075
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
2737249
4
4
8
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
2372671
0
5
5
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
3228110
15
0
15
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
3118301
1
5
6
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
2605879
0
3
3
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
3228111
17
0
17
leblond_19_ASD_discovery_cases
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
36
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
N/A
77.78% Male
2682340
1
0
1
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
107817
0
2
2
leite_22_DD/ID_discovery_cases
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
369
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
93.2% of cases under 18 yrs.
47.4% Male
3103425
3
0
3
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
2690000
0
4
4
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
1443754
3
1
4
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
2491190
1
0
1
li_18_ASD_discovery_cases
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
13
Diagnosis of ASD made according to DSM-IV
Mean age, 4.56 0.97 years
92.31% Male
238584
0
1
1
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
2770313
4
1
5
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
2555488
1
1
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
2541000
4
2
6
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
2771300
1
1
2
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
2541548
2
2
4
miyake_23_ASD_discovery_cases
Cohort of ASD probands consisting of 351 trios, 24 quads, and two quintets included in a multi-center cohort.
405
Cases were clinically diagnosed with ASD based on DSM-V.
NA
69.88% Male
1029390
0
1
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
270000
0
2
2
mulle_13_SCZ_discovery_cases_1
SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
554
Diagnosis of schizophrenia based on meeting DSM-IV citeria
N/A
N/A
3139786
3
0
3
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
142683
1
0
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
305000
1
2
3
oyetunji_20_ASD/DD/ID_discovery_cases
Unrelated male probands with 22q11.21 duplications
2
Both probands were diagnosed with autism spectrum disorder; one proband also presented with ADHD and intellectual disability, while the other presented with developmental delay
Range, 6-14 yrs.
Male
2772241
0
2
2
panigrahi_24_ASD/DD/ID_discovery_cases
Patients seen in the Genetic Clinic of a tertiary care center in India in the last six years and screened for chromosomal duplication syndromes.
32
Neurodevelopmental phenotypes observed in individuals from this cohort included autism spectrum disorder (ASD), developmental delay (DD), and intellectual disability (ID).
Age of diagnosis range, 4 mos.-14 yrs. (median 3 yrs.)
78.125% Male
2128323
0
1
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
3011674
4
3
7
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
115673
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
2580000
1
7
8
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
2537994
1
3
4
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
172605
0
2
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
2868041
4
3
7
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
3154118
3
5
8
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
3100000
0
2
2
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
3100000
3
1
4
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
2373401
4
6
10
saia_23_TS_discovery_cases
Patients with a clinical diagnosis of Tourette syndrome enrolled between April 2021 and April 2022 (Child and Adolescent Neurology and Psychiatry of the Medical and Experimental Department, Catania University).
93
Cases were diagnosed with Tourette syndrome (TS) according to DSM-5 criteria; symptoms of TS were evaluated with the Yale Global Tic Severity Rating Scale (YGTSS). Co-morbidities included intellectual disability, obsessive compulsive disorder (OCD), oppositional defiant disorder (ODD), ADHD, and ASD.
Mean age, 12.1 +/- 3.1 yrs.
76.3% Male
2927585
1
1
2
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
185623
0
2
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
1439985
13
45
58
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
121471
0
2
2
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
2844000
3
1
4
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
2883000
1
0
1
speevak_11_DD_discovery_cases
Patient referred to genetics clinic (Dept. of Genetics & Laboratory Medicine, Credit Valley Hospital, Ontario, Canada) for non-syndromic speech delay
1
Developmental delay (non-syndromic significant speech delay). Differential diagnosis of ASD ruled out by psychiatric assessment at 3.5 yrs., but no specific diagnosis suggested.
4.5 yrs.
Male
206900
0
2
2
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
56354
0
1
1
stobbe_13_ASD_discovery_cases
Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012
36
Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.
Range, 18-45 yrs. (mean 25.3 yrs.)
77.78% Male
2490000
1
0
1
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
2529559
1
1
2
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
2799900
0
2
2
tammimies_15_ASD_discovery_cases
Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
258
Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
4.5 2.8 yrs.
83.72% Male
3266332
0
1
1
tropeano_13_DD/ASD_discovery_cases
Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).
10397
Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.
N/A
63.4% Male
3609098
0
1
1
tropeano_16_ASD_discovery_cases
ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
90
Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
Adult age (20 yrs.+)
N/A
2901783
4
1
5
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
2800000
3
1
4
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
923000
0
0
0
wang_18_TS_discovery_cases
Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
789
Probands diagnosed with Tourette syndrome
N/A
80.57% Male
1804122
0
1
1
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
2584567
5
1
6
woodbury-smith_20_BAP_discovery_cases
Individuals presenting with broader autism phenotype from nine Canadian extended pedigrees (defined as having at least three ASD cases spread across at least two nuclear families)
20
Cases presenting with broader autism phenotype (BAP) as determined following assessment using the BAP Questionnaire
Mean age, 519.22 months (SD 195.26)
40.00% Male (1:1.5 M:F ratio)
2766802
0
1
1
woodward_19_ASD/DD/ID_discovery_cases
Individuals with atypical nested 22q11.21 duplications between LCR22B and LCR22D presenting with neurodevelopmental phenotypes
9
7 individuals were formally diagnosed with ASD, while 2 others presented with autistic features; developmental delay and/or intellectual disability were observed in 8/9 individuals.
Range, 5 yrs. 1 mo.-16 yrs.
77.78% Male
730000
0
9
9
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
3000000
1
1
2
yap_21_ASD_discovery_cases
ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
723
Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
Range, 2-17 yrs.
NA
2768190
1
0
1
ye_12_ASD/BPD/MDD/SCZ_discovery_cases
Samples from brains >13 years of age provided by the Stanley Medical Research Institute and the Clinical Brain Disorders Branch of NIMH
486
Autism (ASD), n=10; bipolar disorder (BPD), n=84; major depressive disorder (MDD), n=154; schizophrenia (SCZ), n=193
Mean age of ASD cases, 29.8 yrs; mean age of all other cases, ~ 47 yrs.
54.9% Male
2700000
1
1
2
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
1869512
3
4
7
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
2016813
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
2924499
0
3
3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
3270719
8
7
15
zhang_23_ASD/DD/ID_discovery_cases
Patients diagnosed with ASD from the the Department of Psychiatry, Beijing Children's Hospital, from July 2019 to May 2021.
354
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria; the two most common features of ASD cases in this cohort were intellectual disability and language delay.
Range, 1-12 yrs.
78.81% Male
2185707
0
1
1
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
215000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ahn_13_SCZ_discovery_controls
Full siblings of probands without diagnosis of neurodevelopmental disorder (19 full siblings from original cohort of 117 full siblings were excluded due to diagnoses of schizophrenia, autism, intellectual disability, or bipolar disorder)
98
Control
N/A
N/A
N/A
N/A
N/A
N/A
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
0
0
0
0
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
225000
0
9
9
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
2200000
0
0
0
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
1435512
2
24
26
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
212256
0
1
1
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1270000
0
5
5
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
N/A
N/A
N/A
girirajan_13a_ASD_discovery_controls3
Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
8329
Control
NA
NA
0
0
0
0
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
201596
2
10
12
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
299875
NA
NA
NA
itsara_10_ASD_discovery_controls_2
Asthmatic children from parent-child trios. Diagnosis given by pediatric allergist at allergy referral clinic of Hospital Infantil de Mexico, Mexico City; genotyping performed at Univ. of Washington Dept. of Genome Sciences
386
Children with mild-to-moderate asthma
Range, 5-17 yrs.
2497006
2
0
2
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
2849789
0
5
5
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
726039
1
2
3
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
15177
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
2830600
4
2
6
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
2359870
0
1
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
2372672
0
2
2
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
700000
0
2
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
157144
1
1
2
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
mulle_13_SCZ_discovery_controls_1
Control subjects selected from three cohorts: a study of Crohn's disease in the Ashkenazim, a study of neuromuscular disease in the Ashkenazim, and the Ashkenazi Jewish Control Registry hosted at Johns Hopkins University.
1014
Control. Control subjects from Crohn's and neuromuscular cohorts were not screened for psychiatric disease; Ashkenazi Jewish Control Registry subjects administered a questionnaire about psychiatric conditions.
N/A
N/A
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
1223017
0
4
4
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
2868041
0
0
0
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
3100000
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
308829
10
22
32
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
56354
0
1
1
tropeano_13_DD/ASD_discovery_controls
Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
11277
Control
N/A
N/A
N/A
N/A
N/A
N/A
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
923000
0
2
2
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
1869512
0
0
0
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ahn_13_SCZ_discovery_cases
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
array SNP, aCGH, qPCR
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
alhazmi_22_ASD_discovery_cases
Saudi Arabia
aCGH
Agilent
ADM-2
Agilent Feature Extraction, Agilent Cytogenomics
PCR
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
bartnik_12_EP_discovery_cases
Poland
aCGH
Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
BCM web-based software, IMiD-web2py
FISH
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
breckpot_16_ID/catatonia_discovery_cases
Belgium
aCGH
OGT CytoSure ISCA
None
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
calderoni_20_ASD_discovery_cases
Italy
aCGH
Agilent 8x60K
qPCR
ceylan_18_DD/ID_discovery_cases
Turkish
Array SNP
Affymetrix CytoScan Optima
ChAS v.3.1
MLPA
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
chen_14_ASD/ID_discovery_cases
Taiwan
aCGH
NimbleGen ISCA Plus
Nexus 6.1
None
chen_16_ASD_discovery_cases
Taiwan
Array SNP
Affymetrix 6.0
qPCR
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
chong_14_DD/ID/ASD/MCA_discovery_cases
Chinese
aCGH
High-resolution 180K oligoarray
aCGH (NimbleGen)
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
dale_17_ASD_discovery_cases
Caucasian
CMA
Platform N/A
FISH
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
du_21_ASD/DD/ID/EP_discovery_cases
United States
Solid phase hybridization
Illumina CytoSNP-850Kv1.2 BeadChip
NA
Illumina Genome Studio V2009.2
None
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
fan_19_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
ChAS
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
None
gillentine_16_ASD/ADHD/DD/ID_discovery_cases
N/A
CMA
Platform N/A
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
girirajan_13a_DD_discovery_cases
NA
N/A
N/A
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
glessner_09_ASD_discovery_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
glessner_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
guilherme_14_DD/EP/ASD_discovery_cases
Brazil
Karyotyping, solid phase hybridization, array SNP
Illumina Quad610, Affymetrix Genome-Wide Nsp/Sty 6.0
FISH
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hodge_13_DD/ID/ASD_discovery_cases
N/A
aCGH, array SNP
Agilent 180K, Agilent 44K, Agilent 105K, Oxford Gene Technology Plus 105K, Affymetrix 6.0, Affymetrix Cytoscan HD
None
hu_22_ASD_discovery_cases
China
Targeted gene panel sequencing
Illumina HiSeq X10
CANOES, HMZDelFinder
PICNIC, AnnotSV
None
hu_23_ASD_discovery_cases
China
Targeted gene sequencing
Panel of 568 ASD-related genes/Illumina HiSeq 2000
NA
CNVseq
qPCR/MLPA
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
jiao_19_EP/DD/ID_discovery_cases
China
WGS
Low-coverage whole genome sequencing
Illumina BclToFastq
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leblond_19_ASD_discovery_cases
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
SnipPeep and XHMM plot visualizations
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
li_18_ASD_discovery_cases
Chinese
Low-coverage WGS
Illumina HiSeq 2000 or 2500 analyzers
PSCC
None
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
miyake_23_ASD_discovery_cases
Japan
Exome sequencing
Illumina HiSeq 2000/2500
NA
XHMM
qPCR
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
mulle_13_SCZ_discovery_cases_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
Solid phase hybridization
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
PCR
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
oyetunji_20_ASD/DD/ID_discovery_cases
Array SNP
Lineagen CytoScan HD
None
panigrahi_24_ASD/DD/ID_discovery_cases
India
Array SNP
Affymetrix CytoScan 750K
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
saia_23_TS_discovery_cases
Italy
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.11.5, Agilent Genomic Workbench v.7.0.4.0.
MLPA, RT-PCR
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
qPCR
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
shin_15_ASD/DD/ID_discovery_cases
Korean
MLPA
SALSA MLPA P245 Microdeletion Syndromes probemix
GeneMarker (SoftGenetics); Affymetrix ChAS v2.1, Nexus Copy Number v.7.5 (BioDiscovery)
Array SNP (Affymetrix CytoScan 750K)
speevak_11_DD_discovery_cases
NA
aCGH
CytoChip 105K array
BlueFuse Multi
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
stobbe_13_ASD_discovery_cases
N/A
aCGH
NimbleGen CGX-3v1.0
ADM-1
NimbleScan 2.5, DNA Analytics 4.0
None
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
CMA, karyotyping, and/or MLPA
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
tammimies_15_ASD_discovery_cases
Canada
aCGH, array SNP, solid phase hybridization
One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
None
tropeano_13_DD/ASD_discovery_cases
70% Caucasian, 15% African, 15% other/mixed ancestry
aCGH
Agilent 60K
Feature Extraction, DNA Analytics
None
tropeano_16_ASD_discovery_cases
United Kingdom
aCGH
Agilent 60K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench
MLPA, aCGH
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
wang_18_TS_discovery_cases
N/A
WES
Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
CoNIFER
None
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
woodbury-smith_20_BAP_discovery_cases
Northern European
Array SNP, solid phase hybridization
Affymetrix 6.0, Affymetrix CytoScan HD, Illumina HumanCoreExome, Illumina Omni 2.5M, Illumina Omni 1M
ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite, PennCNV, QuantiSNP
None
woodward_19_ASD/DD/ID_discovery_cases
N/A
Solid phase hybridization
Illumina Infinium HumanCytoSNP-12 BeadChip
Illumina GenomeStudio, KaryoStudio v.4.1
None
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
yap_21_ASD_discovery_cases
Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
Solid phase hybridization
Illumina Global Screening Array v1 and v2
PennCNV, iPattern
GenomeStudio v.2.0.4
None
ye_12_ASD/BPD/MDD/SCZ_discovery_cases
NA
Solid phase hybridization
Illumina 1M Duo SNP chip
PennCNV, QuantiSNP
Illumina GenomeStudio V2010.1
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
zhang_23_ASD/DD/ID_discovery_cases
China
WGS
Illumina Novaseq
NA
CNVnator (v.1.2.2), BIC-Seq (v.0.7.2)
qPCR
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ahn_13_SCZ_discovery_controls
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
girirajan_13a_ASD_discovery_controls3
NA
Array SNP
N/A
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
glessner_09_ASD_discovery_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
glessner_09_ASD_replication_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
itsara_10_ASD_discovery_controls_2
Hispanic/Mexican
Solid phase hybridization
Illumina HumanHap550 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
mulle_13_SCZ_discovery_controls_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
None
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
tropeano_13_DD/ASD_discovery_controls
77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
Solid phase hybridization
Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
None
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
ahn_13_SCZ_discovery_cases-NSB_ID1220
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
18339130
21158044
2818915
GRCh38
Deletion
Yes
ahn_13_SCZ_discovery_cases-NSB_ID1275
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
18339130
21393389
3054260
GRCh38
Deletion
Yes
ahn_13_SCZ_discovery_cases-NSB_ID1804
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
18339130
21279061
2939932
GRCh38
Deletion
Yes
ahn_13_SCZ_discovery_cases-NSB_ID3169
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
18339130
21443910
3104781
GRCh38
Deletion
Yes
ahn_13_SCZ_discovery_cases-NSB_ID537
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
18339130
21170959
2831830
GRCh38
Deletion
No
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case08DG00155
N/A
M
Developmental delay
Developmental delay with microcephaly, hyperactivity, long face, high arched palate, dental carries and vascular ring (Velocardiofacial Syndrome). Consanguineous parents.
Developmental delay
18162023
21444618
3282596
GRCh38
Deletion
No
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case10DG0083
N/A
N/A
Intellectual disability
Intellectual disability with dysmorphic features and bronchial asthma (Velocardiofacial Syndrome). Non-consanguineous parents.
Intellectual disability
18339130
20363365
2024236
GRCh38
Deletion
No
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0586
N/A
N/A
Developmental delay
Developmental delay with dysmorphic features, no cleft and no murmur, history of twitching on right side of face due to hypocalcaemia (Velocardiofacial Syndrome). Non-consanguineous parents.
Developmental delay
18162023
21111373
2949351
GRCh38
Deletion
No
alhazmi_22_ASD_discovery_cases-case1
NA
F
ASD
Case diagnosed with ASD based on DSM-5.
21032272
21204194
171923
GRCh38
Duplication
No
alhazmi_22_ASD_discovery_cases-case3
NA
M
ASD
Case diagnosed with ASD based on DSM-5.
19597234
19845905
248672
GRCh38
Duplication
Yes
alhazmi_22_ASD_discovery_cases-case4
NA
M
ASD
Case diagnosed with ASD based on DSM-5.
19759970
19761953
1984
GRCh38
Deletion
Yes
alhazmi_22_ASD_discovery_cases-case5
NA
F
ASD
Case diagnosed with ASD based on DSM-5.
19758839
19762970
4132
GRCh38
Deletion
Yes
alhazmi_22_ASD_discovery_cases-case6
NA
M
ASD
Case diagnosed with ASD based on DSM-5.
19761160
19767195
6036
GRCh38
Deletion
Yes
bacchelli_20_ASD_discovery_cases-caseAB143
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
18983711
19020595
36885
GRCh38
Duplication
No
bartnik_12_EP_discovery_cases-case4
NA
M
Epilepsy
Age of onset of epilepsy: 13 years. Seizure types/epilepsy syndrome: Juvenile myoclonic epilepsy (JME). Parental phenotype: mother with mild intellectual disability and velocardiofacial syndrome (VCFS).
Normal IQ
18339130
21076885
2737756
GRCh38
Deletion
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case41
3 yrs. 10 mos.
M
Autism and borderline DD/ID
Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes.
Borderline DD/ID
18339130
21028664
2689535
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case76
4 yrs. 9 mos.
M
PDD-NOS and borderline DD/ID
Autism: yes (PDD-NOS). Epilepsy: no. Dysmorphic features: yes.
Borderline DD/ID
18888903
19037282
148380
GRCh38
Deletion
Yes
breckpot_16_ID/catatonia_discovery_cases-case5
N/A (adult)
M
Intellectual disability and catatonia
Case met DSM-5 criteria for catatonia (symptoms included stupor, agitation, mutism, stereotypies, grimacing, ambitendence, perseveration, automatic obedience, mitgehen, autonomous symptoms). Behavioral/psychiatric evaluation: schizophrenia. Epilepsy/seizures: epilepsy. Dysmorphic features: none. Additional medical history: sarcoidosis, unilateral facial palsy.
Mild intellectual disability
18178932
21307146
3128215
GRCh38
Duplication
No
bremer_11_ASD_discovery_cases-case9
9
F
ASD
Non-syndromic ASD, familial case
IQ>70
18339130
21207225
2868096
GRCh38
Duplication
Yes
calderoni_20_ASD_discovery_cases-caseP28
2 yrs. 7 mos.
F
ASD
ADOS module 1 evaluation: Social Affect score 9, Restricted and Repetitive Behaviors score 10, Calibrated Severity Score 10. Language and communication evaluation: speech delay/absent speech.
IQ 70
20400132
21086225
686094
GRCh38
Duplication
Yes
ceylan_18_DD/ID_discovery_cases-case20
5 yrs.
N/A
Developmental delay and intellectual disability
Developmental milestones: developmental delay. Dysmorphic features: hypertelorism, blunted nose, high arched palate. Other findings: Tetralogy of Fallot.
Intellectual disability
18339130
21111373
2772244
GRCh38
Deletion
Yes
ceylan_18_DD/ID_discovery_cases-case21
5 yrs.
N/A
Developmental delay and intellectual disability
Developmental milestones: developmental delay. Dysmorphic features: frontal bossing, synophrys, pytosis. Other findings: strabismus.
Intellectual disability
18339130
21088994
2749865
GRCh38
Duplication
Yes
ceylan_18_DD/ID_discovery_cases-case22
11.5 yrs.
N/A
Loss of cognitive functioning
Developmental milestones: no developmental delay. Dysmorphic features: no dysmorphic features.
Loss of cognitive functioning
18339130
21450597
3111468
GRCh38
Duplication
Yes
ceylan_18_DD/ID_discovery_cases-case23
11 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal history: hospitalized during neonatal period due to high indirect bilirubinemia. Developmental milestones: developmental delay. Dysmorphic features: round face, broad nasal bridge, hypertelorism, downslanting palpebral fissures, long philtrum, overfolded helix. Other findings: patent ductus arteriosus, basillar impression and hypoplasia of clivus on T2-weighed MRI, dysmetria, dysdiadochokinesia. Growth parameters: head circumference 52 cm (25th-50th %ile), height 121 cm (< 3rd %ile), weight 25 kg (< 3rd %ile). Family history: born to consanguineous parents, each of whom carry a 22q11.21 duplication; patient's father presented without neuropsychiatric problems other than sudden irritation; patient's mother had difficulty doing arithmetic calculations; patient's sister, who carried a 22q11.21 duplication inherited from one of their parents, presented with difficulty with mathematics, some social difficulties, borderline mental disability, hypertelorism, broad nasal bridge, and downslanting palpebral fissures.
Intellectual disability, learning disabilities
18339130
21067136
2728007
GRCh38
Homozygous duplication
Yes
chan_22_ASD_discovery_cases-case3-0437-000
NA
M
ASD
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: inguinal hernia and hydrocele noted at birth that required surgical repair. Behavioral/psychiatric evaluation: vocal and motor tics at 11 years 9 months. Brain imaging: absent corpus callosum. Dysmorphic features: low frontal and posterior hairlines with thick coarse hair, ear asymmetry with hypoplasia left superior crus and large left ear, dental abnormalities (wide-spaced upper and lower incisors, 3 canines abnormally placed and 4th canine absent), deep-set brittle finger and toe nails with large feet. Growth parameters: macrocephaly (head circumference +3 SD), tall stature (height >95th %ile), obesity (body mass index >95th %ile). Family history: his father did not have ASD but had academic difficulty and a diagnosis of anxiety disorder.
Cognitive evaluation at 12 years 10 months demonstrated a full scale IQ score of 108 and an oral expression standard score of 101 (53rd centile).
18939001
21080000
2141000
GRCh38
Duplication
No
chan_22_ASD_discovery_cases-case3-0624-000
NA
M
ASD, ADHD, and intellectual disability
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: micropenis and left esotropia noted at birth. Developmental milestones: usage of single words with meaning at 12 months, followed by language regression. Behavioral/psychiatric evaluation: diagnoses of ASD and ADHD at 11 years 10 months, diagnosis of anxiety disorder at 15 years. Dysmorphic features: narrow palpebral fissures with epicanthal folds and hooded eyelids, tubular nose, tapered fingers with distal digital hypoplasia. Growth parameters: morbid obesity (body mass index 49.2).
Cognitive evaluation at 12 years demonstrated a full scale IQ score of 76, a reading comprehension standard score of 86 (10th centile), and a math skills standard score of 64 (1st centile).
18901888
21111311
2209424
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case26
N/A
F
Hyperactivity and motor deficits
DIL, motor difficulties, hyperactivity
18166088
20914936
2748849
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case312
N/A
M
Speech delay
Congenital anomalies, speech and/or language delay or impairment, learning difficulties. and facial dysmorphism
Learning difficulties
18339130
21444618
3105489
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case377
N/A
M
Developmental delay, intellectual disability, and ADHD
Convulsions, intellectual disability, developmental delay, speech and/or language delay or impairment, ADHD and facial dysmorphism
Intellectual disability
18166088
21106728
2940641
GRCh38
Duplication
No
chaves_19_ASD/DD/ID_discovery_cases-case409
N/A
M
Developmental delay
Congenital anomalies, ligament laxity, developmental delay, and facial dysmorphism
18339130
20362613
2023484
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case95
N/A
F
Hyperactivity and motor deficits
DIL, motor difficulties and hyperactivity
18166088
20704600
2538513
GRCh38
Deletion
No
chaves_24_ASD/DD/ID_discovery_cases-case1033
M
ADHD, developmental delay, intellectual disability, and seizures
Developmental delay, seizures, and ADHD
Intellectual disability, specific learning disability
18929329
21106728
2177400
GRCh38
Duplication
No
chaves_24_ASD/DD/ID_discovery_cases-case1042
M
Developmental delay
Ataxia, developmental delay, facial dysmorphism, epicanthus and oblique palpebral fissures
18166088
21446182
3280095
GRCh38
Deletion
No
chaves_24_ASD/DD/ID_discovery_cases-case1113
F
Developmental delay
Discrete developmental delay, dyslalia, microphthalmia, bilateral leucoma, bilateral exophthalmos, oblique palpebral fissures, telecanthus, limitations in elbow extension, left equinovarus foot
20362587
21446182
1083596
GRCh38
Deletion
No
chaves_24_ASD/DD/ID_discovery_cases-case632
M
Developmental delay
Quadriparesis with hypotonia, multiple CAs, developmental delay.
18153983
21446182
3292200
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case29
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
18907321
19036370
129050
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case57
NA
F
ASD, intellectual disability, and epilepsy
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2. Case also presented with phenylketonuria and epilepsy.
Intellectual disability.
18907321
19036370
129050
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case75
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
18907321
19036370
129050
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case88
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
18907321
19036370
129050
GRCh38
Duplication
No
chen_14_ASD/ID_discovery_cases-case1
13 yrs.
F
ASD and ID
Diagnosis of ASD (according to DSM-IV criteria). Birth/neonatal history: born at term with birth weight of 3280 g. Developmental milestones: speech delay noted at age of 3 years (led to early intervention). Motor and musculoskeletal evaluation: jumping-like gait; bilateral clinodactyly of the 5th fingers, bilateral pes cavus. Behavioral/psychiatric evaluation: found to have autism at age of 8 years; emotional instability, behavior problems. Other features: difficulty in self-care of menstruation. Dysmorphic features: microcephaly, hypertelorism, flat facial profile, prominent forehead, thick scalp hair, upslanting palpebral fissures, broad nasal bridge, bulbous nose, right simian crease. Growth parameters: height of 161 cm, weight of 61 kg, and head circumference of 54.3 cm. Karyotype: apparently balanced reciprocal translocation [46,XX,t(8;12)(q24.3;p11.2)dn] identified at age of 8 years. Family history: healthy parents with normal karyotypes; 23-year-old mother and 25-year-old father at time of birth.
Intellectual disability and cognitive impairment (IQ score of 50); enrolled in special school for children with intellectual disability.
18657470
19024306
367000
GRCh37
Duplication
No
chen_16_ASD_discovery_cases-probandU-801
13.9 yrs.
M
ASD
Case diagnosed with ASD based on DSM-IV and confirmed by ADI-R (clinical diagnosis of Asperger's syndrome). ADI-R assessment (current score/most severe at age of 4-5 years): qualitative abnormalities in reciprocal social interaction, 11/27 (cut-off score of 10); qualitative abnormalities in communication, 6/12 (cut-off score of 8); restricted, repetitive, and stereotyped patterns of behavior, 3/5 (cut-off score of 3). Social Responsive Scale assessment (Raw score/t score): social communication, 46/94.90; stereotyped behaviors/interests, 23/87.93; social awareness, 24/62.99; social emotion, 15/72.56; total score, 108/88.23. Social Communication Questionnaire assessment: social interaction subscale score of 15, repetitive behavior score of 2, communication subscale score of 2, total score of 18 (cut-off score is 15). Brain imaging: increased volume in the left cingulate gyrus across rostral and caudal anterior, isthmus, and posterior parts; decreased volumes in the right cingulate gyrus except for rostral anterior cingulate compared to typically developing controls. Family history: both parents and unaffected female sibling (U-804) are negative for the 22q11.2 duplication.
Wechsler Intelligence Scale for Children-Third Edition (WISC-III) assessment: verbal IQ of 120 (91st %ile), performance IQ of 112 (79th %ile), full-scale IQ of 117 (87th %ile). Wisconsin Card Sorting Test assessment: total errors score of 10 (95th %ile), perseverative response score of 5 (97th %ile), perseverative errors score of 5 (96th %ile), nonperseverative errors score of 5 (88th %ile), conceptual level responses score of 61 (88th %ile).
18640000
21610000
2970000
Unknown
Duplication
Yes
chen_16_ASD_discovery_cases-probandU-830
13.8 yrs.
M
ASD, ID, and epilepsy
Case diagnosed with ASD based on DSM-IV and confirmed by ADI-R (clinical diagnosis of autistic disorder). ADI-R assessment (current score/most severe at age of 4-5 years): qualitative abnormalities in reciprocal social interaction, 11/23 (cut-off score of 10); qualitative abnormalities in communication, 8/20 (cut-off score of 8); restricted, repetitive, and stereotyped patterns of behavior, 9/10 (cut-off score of). Social Responsive Scale assessment (Raw score/t score): social communication, 42/89.91; stereotyped behaviors/interests, 21/83.52; social awareness, 18/53.97; social emotion, 11/62.11; total score, 92/79.55. Social Communication Questionnaire assessment: social interaction subscale score of 12, repetitive behavior score of 9, communication subscale score of 4, total score of 24 (cut-off score is 15). Epilepsy/seizures: epilepsy at 8 months of age. Brain imaging: increased volume of bilateral cingulate gyrus compared to typically developing controls. Family history: both parents and sister diagnosed with PDD-NOS were negative for 22q11.2 deletion.
Diagnosed with intellectual disability at age of 5 years. Wechsler Intelligence Scale for Children-Third Edition (WISC-III) assessment: verbal IQ of 70 (2nd %ile), performance IQ of 48 (<0.1st %ile), full-scale IQ of 55 (0.1st %ile). Wisconsin Card Sorting Test assessment: total errors score of 95 (<1st %ile), perseverative response score of 62 (1st %ile), perseverative errors score of 52 (1st %ile), nonperseverative errors score of 43 (2nd %ile), conceptual level responses score of 3 (<1st %ile).
19020000
21610000
2090000
Unknown
Deletion
Yes
chen_17_ASD_discovery_cases-caseU-1994
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 7 (past score 11); Qualitative abnormalities in verbal and nonverbal communication, current score 2 (past score 9); Qualitative abnormalities in nonverbal communication, current score 0 (past score 5); Restricted, repetitive, and stereotyped patterns of behaviour, current score 2 (past score 2); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 129; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 42. Epilepsy: no history of epilepsy.
Performance IQ 94, Verbal IQ 116, Full-scale IQ 106
18794021
19019471
225451
GRCh38
Duplication
Yes
chen_17_ASD_discovery_cases-caseU-801
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 11 (past score 27); Qualitative abnormalities in verbal and nonverbal communication, current score 6 (past score 12); Qualitative abnormalities in nonverbal communication, current score 5 (past score 11); Restricted, repetitive, and stereotyped patterns of behaviour, current score 3 (past score 5); Abnormality of development evident at or before 36 months, past score 3. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 108; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 18. Epilepsy: no history of epilepsy.
Performance IQ 112, Verbal IQ 120, Full-scale IQ 117
18157533
21257048
3099516
GRCh38
Duplication
Yes
chen_17_ASD_discovery_cases-caseU-830
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 11 (past score 23); Qualitative abnormalities in verbal and nonverbal communication, current score 8 (past score 20); Qualitative abnormalities in nonverbal communication, current score 1 (past score 10); Restricted, repetitive, and stereotyped patterns of behaviour, current score 9 (past score 10); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 92; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 23. Epilepsy: diagnosis of epilepsy.
Performance IQ 48, Verbal IQ 70, Full-scale IQ 55
18339130
21257048
2917919
GRCh38
Deletion
Yes
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1104
N/A
M
Developmental delay
Developmental delay, dysmorphic features. Family history: none reported.
Developmental delay
18339130
21003834
2664705
GRCh38
Duplication
Yes
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1678
N/A
M
DD and autistic features
Mild developmental delay, autistic, dysmorphic features. Family history: none reported.
Mild developmental delay
18339130
21003693
2664564
GRCh38
Duplication
Yes
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH3712
N/A
M
Developmental delay
Moderate developmental delay, multiple congenital anomalies (MCA), dysmorphic features. Family history: none reported.
Moderate developmental delay
18339130
21003834
2664705
GRCh38
Deletion
Yes
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH4349
N/A
M
Developmental delay
Severe developmental delay, dysmorphic features, hypothyroidism. Family history: spontaneous twin with hypothyroidism and delay (presence of 22q11.21 deletion in this individual N/A).
Severe developmental delay
18339130
21107640
2768511
GRCh38
Deletion
Yes
christian_08_ASD_discovery_cases-AU001804
NA
M
ASD
NA
NA
18339130
20988591
2649462
GRCh38
Duplication
Yes
christian_08_ASD_discovery_cases-AU004903
NA
F
ASD
NA
NA
18339130
20988591
2649462
GRCh38
Duplication
Yes
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
18760915
19019471
258557
GRCh38
Duplication
No
costa_21_ASD_discovery_cases-caseP109
NA
M
ASD
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: speech and motor regression, food selectivity, aggressive behavior.
18339129
21086225
2747097
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case10
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R. Additional medical history: mild tricuspid and mitral valve insufficiency, tortuous left internal carotid artery.
19715250
19765082
49833
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case230
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
18907321
19036370
129050
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case351
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
18907321
19022995
115675
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case397
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
18907321
19022995
115675
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case465
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
18907321
19022995
115675
GRCh38
Duplication
No
dale_17_ASD_discovery_cases-case1
10 yrs.
M
ASD and learning disability
Case diagnosed with ASD at age of 6 years. Birth/neonatal history: unremarkable pregnancy; delivery was induced at 36.5 weeks gestation due to oligohydramnios of unknown cause; birth weight 2353 g (10th %ile). Developmental milestones: mild delay in independent walking (18 months); more significant delay in expressive speech (first clear words at around 3.5 years). Behavioral/psychiatric evaluation: elevated scores on inattention, hyperactivity, and impulsivity; moderate deficits in reciprocal social behavior (SRS-2); Social Communication Questionnaire (SCQ) score of 11; no concerns for anxiety or depression. Cardiac evaluation: mild pulmonary valve stenosis noted on echocardiogram. Visual evaluation: exotropia. Dysmorphic features: hooded eyelids, epicanthal folds, widely spaced eyes, long philtrum, flat philtrum, thin upper lip vermillion, bilateral preauricular ear pits. Growth parameters: weight 25th %ile, height 25th %ile, BMI 25th %ile, and head circumference 25th %ile at age of 7 years. Family history: first child born to a non-consanguineous Caucasian couple from South Africa; proband's father with 2.73 Mb 22q11.21 duplication presented with left preauricular ear pit, long philtrum, flat philtrum, wide uvula, average overall intellectual functioning and academic skills, and mild symptoms of depression and anxiety; proband's mother with 2.55 Mb 22q11.21 duplication presented with average verbal reasoning scores and low-average non-verbal reasoning scores, as well as mild symptoms of depression and anxiety; proband has two sisters (monozygotic twins with one 22q11.21 duplication) presenting with bilateral preauricular ear pits, average overall intellectual abilities and academic skills, and clinically elevated symptoms of social anxiety.
Learning disability [superior verbal reasoning (91st %ile), average non-verbal reasoning (27th %ile), extremely low processing speed (2nd %ile), and low-average working memory (9th %ile) on WISC-IV subtests; borderline basic reading (3rd %ile) and average math reasoning (27th %ile) on WJ-III]; evaluation using Vineland Adaptive Behavior Scales (VABS-II) revealed average daily living scores (50th %ile) and below average communication (12th %ile) and socialization (9th %ile) scores.
18339130
21086226
2747097
GRCh38
Duplication
Yes
dale_17_ASD_discovery_cases-case1
10 yrs.
M
ASD and learning disability
Case diagnosed with ASD at age of 6 years. Birth/neonatal history: unremarkable pregnancy; delivery was induced at 36.5 weeks gestation due to oligohydramnios of unknown cause; birth weight 2353 g (10th %ile). Developmental milestones: mild delay in independent walking (18 months); more significant delay in expressive speech (first clear words at around 3.5 years). Behavioral/psychiatric evaluation: elevated scores on inattention, hyperactivity, and impulsivity; moderate deficits in reciprocal social behavior (SRS-2); Social Communication Questionnaire (SCQ) score of 11; no concerns for anxiety or depression. Cardiac evaluation: mild pulmonary valve stenosis noted on echocardiogram. Visual evaluation: exotropia. Dysmorphic features: hooded eyelids, epicanthal folds, widely spaced eyes, long philtrum, flat philtrum, thin upper lip vermillion, bilateral preauricular ear pits. Growth parameters: weight 25th %ile, height 25th %ile, BMI 25th %ile, and head circumference 25th %ile at age of 7 years. Family history: first child born to a non-consanguineous Caucasian couple from South Africa; proband's father with 2.73 Mb 22q11.21 duplication presented with left preauricular ear pit, long philtrum, flat philtrum, wide uvula, average overall intellectual functioning and academic skills, and mild symptoms of depression and anxiety; proband's mother with 2.55 Mb 22q11.21 duplication presented with average verbal reasoning scores and low-average non-verbal reasoning scores, as well as mild symptoms of depression and anxiety; proband has two sisters (monozygotic twins with one 22q11.21 duplication) presenting with bilateral preauricular ear pits, average overall intellectual abilities and academic skills, and clinically elevated symptoms of social anxiety.
Learning disability [superior verbal reasoning (91st %ile), average non-verbal reasoning (27th %ile), extremely low processing speed (2nd %ile), and low-average working memory (9th %ile) on WISC-IV subtests; borderline basic reading (3rd %ile) and average math reasoning (27th %ile) on WJ-III]; evaluation using Vineland Adaptive Behavior Scales (VABS-II) revealed average daily living scores (50th %ile) and below average communication (12th %ile) and socialization (9th %ile) scores.
18339130
21086226
2747097
GRCh38
Duplication
Yes
davis_09_ASD_discovery_cases-AU1334302
NA
NA
Syndromic ASD
Diagnosis: broad spectrum autism. Syndromic autism features: micropthalmia. Family history: father diagnosed with depression, anxiety disorder, and ADHD.
18697765
19786161
1088396
Unknown
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_262738
N/A
F
Developmental delay/intellectual disability
20604697
21028664
423968
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_299976
N/A
M
Developmental delay/intellectual disability
18339130
21086225
2747096
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_299978
N/A
M
Developmental delay/intellectual disability
18339130
21086225
2747096
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300530
N/A
M
Developmental delay/intellectual disability
18339130
21086225
2747096
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300603
N/A
M
Developmental delay/intellectual disability
21444416
22574173
1129758
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300629
N/A
M
Developmental delay/intellectual disability
Incorrect CNV coordinates were provided in the report
20379187
21151128
771942
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300741
N/A
F
Developmental delay/intellectual disability
20400132
21086225
686094
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_301143
N/A
M
Developmental delay/intellectual disability
18339130
21086225
2747096
GRCh38
Deletion
Yes
du_21_ASD/DD/ID_discovery_cases-case277
3 yrs.
M
ASD, developmental delay, and seizures
Global developmental delay, seizures, bilateral postaxial polydactyly, self-injurious behavior, autism
18339129
21109441
2770313
GRCh38
Deletion
No
du_21_ASD/DD/ID_discovery_cases-case291
2 yrs.
M
Developmental delay
Global developmental delay
18157532
21108064
2950533
GRCh38
Duplication
No
du_21_ASD/DD/ID_discovery_cases-case382
6 yrs.
M
Developmental delay
Developmental delay, mixed receptive-expressive language disorder
18339129
21109441
2770313
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA38
14 yrs. (born 2000)
F
ASD
Diagnosis: high functioning autism. Co-morbidities/additional features: none reported. Family history: none reported. CNV: no overlapping calls in 2,357 POPGEN and OHI controls, 100% overlap in DGV.
Normal IQ (IQ 91)
19205086
19233883
28798
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case1195_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18679463
19051539
372076
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case14230_3640
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20379205
21109441
730237
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16074_1571042001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18339130
21109441
2770312
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case17015_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18890274
20330249
1439976
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case17015_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20367174
21111491
744318
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1763_311
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18679463
19051464
372001
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case3067_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20367174
21111491
744318
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3126_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18692668
19051539
358871
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case3127_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18339130
21109441
2770312
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3183_7
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18339130
21135629
2796500
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case3205_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18692668
19051539
358871
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case4271_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18339130
21111491
2772362
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case5039_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case5222_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case5261_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18339130
21111491
2772362
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5268_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case5291_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18688800
19051464
362664
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case5378_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20379205
20674658
295454
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5397_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case5510_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17051550
17388108
336558
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case5559_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20175547
20229281
53735
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6021_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17051550
17388108
336558
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case6125_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20367174
21109441
742268
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6242_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18710895
19013371
302476
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case6323_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case6340_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21562901
21593355
30455
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8627_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18339130
21109441
2770312
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case8703_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19907019
19951573
44555
GRCh38
Deletion
No
fan_19_ASD_discovery_cases-caseASD017
6 yrs. 10 mos.
M
ASD
CARS score 34 (mild severity)
18339130
21444618
3105489
GRCh38
Deletion
No
fan_19_ASD_discovery_cases-caseASD419
5 yrs.
F
ASD
CARS score 33.5 (mild severity)
18162024
19911623
1749600
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0014921
N/A
M
ASD
Family history: mother presents with depression.
20394628
21057201
662574
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0024732
N/A
M
ASD
Family history: mother presents with depression, bipolar disorder, and ADHD.
18339130
20586705
2247576
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259106
N/A
F
Developmental delay
Sparse scalp hair; Fragile nails; Abnormality of limb bone morphology; Alopecia of scalp; High palate; Global developmental delay; Global developmental delay; Abnormality of the heart
18339130
21109830
2770701
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260134
N/A
F
Seizures
Agenesis of corpus callosum; Periventricular gray matter heterotopia; Seizures; Frontal bossing; Eczema
18339130
21476273
3137144
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260575
N/A
F
Developmental delay
Abnormality of the nervous system; Dysphagia; Abnormality of the palpebral fissures; Inverted nipples; Redundant skin; Global developmental delay
18339130
21109830
2770701
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262138
N/A
F
Learning disability
Specific learning disability; Congenital hypothyroidism; Abnormality of metabolism/homeostasis; Rhabdomyolysis; Cardiomyopathy
18339130
21109830
2770701
GRCh38
Deletion
No
gannon_11_ASD/DD_discovery_cases-patientV
ASD and/or DD
Dysmorphic features: unknown
IQ unknown
NA
NA
NA
Unknown
Duplication
No
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient7
14 yrs.
M
Speech delay
Case did not meet cutoff scores in all behavioral areas on ADI-R but was classified as being on the autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Short stature, speech delay, dysmorphic features. Developmental milestones: N/A. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 0.32th %ile, weight 3.03th %ile, OFC 5th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.
Full scale ratio IQ (DAS-II): 53.
18339130
21095622
2756493
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si123
11
M
Autism
ADOS score: 7. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 73; Verbal IQ, 87; Non-verbal IQ, 68.
18339130
21116264
2777135
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si149
13
M
Autism
ADOS score: 8. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 131; Non-verbal IQ, 112.
18599601
18748556
148955
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si19
8
M
Autism
ADOS score: 6. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 101; Non-verbal IQ, 95.
20168777
20313060
144284
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si193
8
M
Autism
ADOS score: 8. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 84; Non-verbal IQ, 106.
18907030
19019954
112925
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si20
12
M
Autism
ADOS score: 7. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 123; Non-verbal IQ, 101.
18536300
18748556
212256
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si206
13
M
Autism
ADOS score: 8. Vineland composite score: 101.
No mental retardation/intellectual disability. Full-scale IQ, 119; Verbal IQ, 114; Non-verbal IQ, 119.
18536300
18748556
212256
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si207
7
M
Autism
ADOS score: 7. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 113; Non-verbal IQ, 111.
18562002
18748556
186554
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si208
14
M
Autism
ADOS score: 4. Vineland composite score: 61.
No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 84; Non-verbal IQ, 132.
18603026
18748556
145530
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si209
13
M
Autism
ADOS score: 6. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 120; Non-verbal IQ, 128.
18536300
18748556
212256
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si22
6
M
Autism
ADOS score: 8. Vineland composite score: 89.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 104; Non-verbal IQ, 111.
20168777
20323613
154837
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si229
11
F
Autism
ADOS score: 9. Vineland composite score: 69.
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 45; Non-verbal IQ, 67.
18890825
19019954
129130
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si246
18
M
Autism
ADOS score: NA. Vineland composite score: 59.
No mental retardation/intellectual disability. Full-scale IQ, 119; Verbal IQ, 117; Non-verbal IQ, 118.
18536300
18748556
212256
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si250
15
M
Autism
ADOS score: 6. Vineland composite score: 66.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 60; Non-verbal IQ, 39.
18559232
18748556
189324
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si255
6
M
Autism
ADOS score: 5. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 99; Non-verbal IQ, 101.
18890825
19043451
152627
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si309
8
M
Autism
ADOS score: 9. Vineland composite score: 65.
Mild mental retardation/intellectual disability. Full-scale IQ, 57; Verbal IQ, 51; Non-verbal IQ, 65.
18599601
18748556
148955
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si318
12
M
Autism
ADOS score: 7. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 89; Non-verbal IQ, 80.
18565059
18748556
183497
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si35
17
M
Autism
ADOS score: 8. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 96; Non-verbal IQ, 98.
20168777
20313060
144284
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si45
9
M
Autism
ADOS score: 7. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 95; Non-verbal IQ, 131.
18562002
18748556
186554
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si57
11
M
Autism
ADOS score: 6. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
18603026
18748556
145530
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si8
16
M
Autism
ADOS score: 7. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 93; Non-verbal IQ, 91.
18536300
18748556
212256
NCBI36
Duplication
No
girirajan_11_ASD_discovery_cases-Si86
17
F
Autism
ADOS score: 10. Vineland composite score: 53.
Severe mental retardation/intellectual disability. Full-scale IQ, 26; Verbal IQ, 19; Non-verbal IQ, 29.
18907030
19019954
112925
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case1593
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1594
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1595
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1596
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1597
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1598
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1599
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1600
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1601
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1602
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1603
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1604
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1605
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1606
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1607
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1608
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1609
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1610
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1611
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1612
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1613
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1614
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1615
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1616
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1617
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1618
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1619
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1620
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1621
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1622
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1623
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1624
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1625
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1626
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1627
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1628
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1629
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1630
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1631
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1632
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1633
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1634
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1635
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1636
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1637
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1638
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1639
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1640
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1641
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1642
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1643
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1644
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1645
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1646
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1647
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1648
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1649
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1650
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1651
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1652
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1653
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1654
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1655
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1656
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1657
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1658
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1659
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1660
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1661
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1662
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1663
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1664
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1665
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1666
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1667
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1668
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1669
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1670
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1671
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1672
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1673
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1674
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1675
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1676
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1677
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1678
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1679
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1680
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1681
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1682
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1683
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1684
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1685
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1686
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1687
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1688
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1689
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1690
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1691
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1692
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1693
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1694
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1695
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1696
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1697
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1698
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1699
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1700
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1701
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1702
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1703
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1704
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1705
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1706
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1707
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1708
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1709
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1710
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1711
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1712
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1713
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1714
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1715
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1716
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1717
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1718
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1719
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1720
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1721
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1722
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1723
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1724
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1725
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1726
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1727
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1728
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1729
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1730
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1731
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1732
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1733
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1734
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1735
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1736
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1737
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1738
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1739
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1740
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1741
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1742
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1743
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1744
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1745
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1746
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1747
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1748
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1749
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1750
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1751
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1752
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1753
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1754
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1755
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1756
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1757
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1758
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1759
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1760
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1761
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1762
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1763
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1764
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1765
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1766
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1767
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1768
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1769
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1770
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1771
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1772
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1773
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1774
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1775
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1776
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1777
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1778
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1779
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1780
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1781
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1782
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1783
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1784
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1785
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1786
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1787
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1788
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1789
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1790
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1791
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1792
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1793
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1794
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1795
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1796
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1797
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1798
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1799
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1800
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1801
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1802
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1803
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1804
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1805
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1806
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1807
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1808
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1809
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1810
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1811
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1812
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1813
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1814
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1815
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1816
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1817
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1818
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1819
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1820
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1821
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1822
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1823
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1824
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1825
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1826
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1827
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1828
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1829
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1830
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1831
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1832
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1833
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1834
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1835
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1836
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case21683
NA
NA
MCA
Multiple congenital anomalies (MCA)
NA
19032487
20302477
1269991
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case24222
6 yrs.
M
Developmental delay
Severe speech delay. Behavioral problems: ADHD, oppositional defiant disorder (ODD), autistic features. Hypotonia. Dysmorphic features: midface hypoplasia, wide central incisors. Congenital anomalies: cleft palate, velopharyngeal insufficiency , sacral dimple, triphalangeal thumbs, right aortic arch, hypospadias, umbilical hernia, small testes. Growth parameters: failure to thrive, microcephaly. Family history: mother with learning disability; maternal half sibling has congenital heart defect and contractures.
Global developmental delay
19032487
20302477
1269991
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case25163
2 yrs.
M
Developmental delay
Mild developmental delays, hypotonia, nondysmorphic, normal height, weight, and OFC; mother with psychiatric issues and learning disability. Individual previously reported in Rosenfeld et al., 2012.
Developmental delay
19032487
20302477
1269991
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case25870
NA
NA
Developmental delay
Dysmorphic features, seizure disorder, multiple congenital anomalies
Developmental delay
19032487
20302477
1269991
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case31576
26 mos.
M
Developmental delay
Motor delays. Hypotonia, unsteady gait, lack of coordination. Nondysmorphic. Congenital anomalies: cystic kidney disease, vesicoureteral reflux. Other features: vertical nystagmus. Growth parameters: height 30th %ile, OFC +1.0 SD. Family history: healthy parents.
NA
19032487
20302477
1269991
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case31898
NA
NA
Developmental delay
Dysmorphic features, seizure disorder
Developmental delay
19032487
20302477
1269991
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case33289
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case33529
NA
NA
Cardiac defects
Aberrant subclavian artery
NA
19032487
20302477
1269991
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case35334
11 mos.
M
MCA
No developmental delay as of yet. Normal tone. Moderate mixed hearing loss. Dysmorphic features: retrognathia, small cupped malformed right ear. Congenital anomalies: cleft palate, left clubfoot, right multicystic dysplastic kidney. Other features: exotropia. Growth parameters: weight <3rd %ile, height 3rd %ile, OFC -1.6 SD. Family history: father has cleft palate and learning disability; mother has renal problems.
NA
19032487
20302477
1269991
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case37709
NA
NA
MCA
Multiple congenital anomalies (MCA)
NA
19032487
20302477
1269991
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case38025
2 mos.
F
MCA
Deceased. Dysmorphic features: low-set ears with folded helices. Congenital anomalies: severe congenital heart defects (tetralogy of Fallot, absent pulmonary valve, ventricular septal defect), butterfly vertebrae, 13 rib pairs, supernumerary nipple. Family history: non-contributory.
NA
19032487
20302477
1269991
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case38700
2 mos.
F
Dysmorphic features
Failure to thrive. No developmental delay as of yet. Normal tone. Dysmorphic features: hypertelorism, long philtrum, broad nasal bridge, prominent antihelix, epicanthal folds, ptosis, bitemporal narrowing. Congenital anomalies: patent ductus arteriosus. Growth parameters: height <3rd %ile, OFC <3rd %ile. Family history: healthy parents; two sisters with learning disability, one with patent foramen ovale.
NA
19032487
20302477
1269991
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case40822
NA
M
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case51723
3 yrs. 4 mos.
M
Developmental delay
Speech delay. Normal tone. Frontal lobe atrophy, hearing loss. Dysmorphic features: micrognathia, low-set ears, blepharophimosis. Congenital anomalies: cryptorchidism. Other features: strabismus, retinopathy, astigmatism. Growth parameters: weight 97th %ile, OFC 97th %ile. Family history: healthy parents.
NA
19032487
20302477
1269991
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case52716
2 yrs. 3 mos.
F
Developmental delay
Dysmorphic features, speech delay, small stature. Normal tone. Dysmorphic features: low-set ears, short neck, small nose, upslanting palpebral fissures, shallow nasal bridge, small mouth, micrognathia. Congenital anomalies: blocked lacrimal ducts. Other features: strabismus, chronic lung disease (prematurity). Growth parameters: height, weight, and OFC <3rd %ile. Family history: mother has bicornate uterus.
Global developmental delay
19032487
20302477
1269991
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case60452
NA
NA
Cardiac defects
Tetralogy of Fallot (TOF), speech delay
NA
19032487
20302477
1269991
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case60918
NA
NA
Developmental delay
Central nervous system disorder
Mental retardation
19032487
20302477
1269991
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case66683
NA
NA
Developmental delay
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-11599.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
19335520
19352236
16717
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12239.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
18062234
21390711
3328478
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12686.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
19046396
19062343
15948
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12878.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
20771294
20778274
6981
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13859.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
18062234
21390711
3328478
GRCh38
Deletion
Yes
girirajan_13a_DD_discovery_cases-DDcase385
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase386
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase387
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase388
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase389
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase390
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase391
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase392
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase393
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase394
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase395
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase396
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase397
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase398
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase399
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase400
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase401
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase402
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase403
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase404
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase405
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase406
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase407
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase408
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase409
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase410
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase411
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase412
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase413
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase414
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase415
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase416
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase417
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase418
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase419
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase420
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase421
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase422
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase423
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase424
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase425
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase426
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase427
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase428
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase429
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase430
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase431
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase432
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase433
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase434
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase435
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase436
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase437
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase438
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase439
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase440
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase441
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase442
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase443
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase444
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase445
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase446
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase447
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase448
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase449
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase450
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase451
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase452
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase453
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase454
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase455
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase456
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase457
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase458
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase459
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase460
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase461
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase462
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase463
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase464
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase465
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase466
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase467
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase468
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase469
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase470
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase471
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase472
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase473
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase474
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase475
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase476
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase477
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase478
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase479
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase480
N/A
N/A
Developmental delay
N/A
N/A
18062234
21390711
3328478
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-16709111253
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
20106649
20255887
149239
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-20005103253
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
18890825
19007174
116350
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-20207108119
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
18907030
19025204
118175
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-21907108174
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
18890825
19025204
134380
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-25209111475
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
20106649
20303167
196519
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-25807108397
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
18587980
18748556
160576
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-29909111597
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
20168777
20303167
134391
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-36909111849
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
20350393
21129550
779158
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-36909111849
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
20724916
20819829
94914
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-61204102229
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
18890825
19025204
134380
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-709110652
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
20168777
20255887
87111
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-1159_008
NA
ASD
NA
NA
20666976
20674658
7683
GRCh38
Duplication
Yes
glessner_09_ASD_discovery_cases-9568374790
NA
ASD
NA
NA
20666976
20674658
7683
GRCh38
Duplication
Yes
glessner_09_ASD_discovery_cases-AU14203
NA
ASD
NA
NA
20666976
20674658
7683
GRCh38
Duplication
Yes
glessner_09_ASD_discovery_cases-C217403
NA
ASD
NA
NA
20666976
20674658
7683
GRCh38
Duplication
Yes
glessner_09_ASD_discovery_cases-NIMH_157-1155-001_06C58406A
NA
ASD
NA
NA
20666976
20674658
7683
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU001804
NA
ASD
NA
NA
20666976
20674658
7683
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU004903
NA
ASD
NA
NA
20666976
20674658
7683
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU067403
NA
ASD
NA
NA
20666976
20674658
7683
GRCh38
Duplication
Yes
glessner_09_ASD_replication_cases-AU1334302
NA
ASD
NA
NA
20666976
20674658
7683
GRCh38
Duplication
Yes
griswold_12_ASD_discovery_cases-case17164
NA
NA
ASD/autism
NA
NA
20379206
20679083
299878
GRCh38
Duplication
Yes
guilherme_14_DD/EP/ASD_discovery_cases-case3
1 yr.
F
Developmental delay
Birth/neonatal history: born at term by C-section; birth weight of 3250 g (25th %ile), birth length of 47 cm (3rd %ile). Developmental milestones: mild motor developmental delay. Motor and musculoskeletal evaluation: hypotonia; promixal implantation of halluces. Dysmorphic features: irregular teeth, large nose, small mouth, small supernumerary nipple at left, hypertrophic clitoris (normal endocrine evaluation). Growth parmeters: weight of 9 kg (25th %ile), length of 73 cm (50th %ile), and head circumference of 47 cm (50th-98th %ile) at age of 1 year. Family history: second child of healthy non-consanguineous parents; younger brother with congenital malformations and normal karyotype.
18877788
20330895
1400000
Unknown
Deletion
Yes
han_22_ASD/DD/ID_discovery_cases-case15D1529
23 mos. 15 days
M
Developmental delay and intellectual disability
Facial dysmorphism
Intellectual disability
18166099
19260311
1094213
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case15D1529
23 mos. 15 days
M
Developmental delay and intellectual disability
Facial dysmorphism
Intellectual disability
19802705
19961860
159156
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case15D1529
23 mos. 15 days
M
Developmental delay and intellectual disability
Facial dysmorphism
Intellectual disability
20427931
20898336
470406
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case15D1529
23 mos. 15 days
M
Developmental delay and intellectual disability
Facial dysmorphism
Intellectual disability
19264595
19771405
506811
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case15D1529
23 mos. 15 days
M
Developmental delay and intellectual disability
Facial dysmorphism
Intellectual disability
20901556
21446508
544953
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case15D3173
8 days
M
Developmental delay and seizures
Facial dysmorphism, seizures, cryptorchidism, congenital heart defect
18339129
21446508
3107380
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case15D881
2 mos. 27 days
M
Developmental delay
Case presented with 22q11.1-q11.21 mosaic duplication (x34).
18339129
21111370
2772242
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case19D0970
6 days
F
Developmental delay and seizures
Seizure, congenital hypothyroidism, facial dysmorphism
18339129
21444618
3105490
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseY11
4 yrs. 3 mos.
F
ASD
18822596
20343221
1520626
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseY85
3 yrs. 10 mos.
M
ASD and intellectual disability
Intellectual disability
20699381
21111546
412166
GRCh38
Duplication
No
hodge_13_DD/ID/ASD_discovery_cases-case6
<1 yr.
M
DD/ID/ASD
New phenotypic features: diaphragmatic eventration, ventricular septal defect
20378147
21151128
772982
GRCh38
Deletion
No
hu_22_ASD_discovery_cases-case28
NA
F
ASD
Case met criteria for ASD using DSM-5.
18912779
20891218
1978440
GRCh38
Duplication
No
hu_23_ASD_discovery_cases-case11
NA
M
ASD
Case clinically diagnosed with ASD according to DSM-V criteria.
19180730
19275830
95101
GRCh38
Duplication
Yes
itsara_10_ASD_discovery_cases-HI0322
NA
NA
Autism
NA
NA
18339130
21106985
2767856
GRCh38
Duplication
Yes
jiao_19_EP/DD/ID_discovery_cases-caseDD18002423
9 yrs.
Female
Epilepsy/seizures
Epilepsy/seizures: seizures (febrile seizures). EEG: EEG abnormality. Brain imaging: basal ganglia calcification.
18339130
21140143
2801014
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000053
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000199
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21207225
2868096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000204
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21454720
3115591
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000478
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000606
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20394686
21145682
750997
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000622
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
20345217
2006088
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000644
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18178957
21207225
3028269
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000705
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
20671425
2332296
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000720
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000869
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18178957
21207225
3028269
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000890
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18989547
19891514
901967
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000891
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000965
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000988
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000996
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
20354644
2015515
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001033
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001045
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001047
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20726972
21151128
424157
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001062
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001099
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20726972
21151128
424157
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001106
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18178957
20324240
2145284
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001115
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18178957
21151128
2972172
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001118
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001121
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20400132
21151128
750997
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001187
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001211
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001220
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21207225
2868096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001231
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18178957
21086225
2907269
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001245
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001246
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
20671425
2332296
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001603
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18886943
20318794
1431852
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001754
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20363880
21073647
709768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001768
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21056995
2717866
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001771
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18902758
20340590
1437833
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001796
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18902758
19012349
109592
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001799
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18917596
19027938
110343
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001824
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18169870
21559889
3390020
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001833
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18188862
21182552
2993691
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001840
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21107522
2768393
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001909
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21107522
2768393
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001915
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20946002
20976899
30898
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001956
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18167908
21101267
2933360
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001958
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18167908
21101267
2933360
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001964
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18950648
20241494
1290847
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001995
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18177786
21101267
2923482
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002006
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18950648
20241494
1290847
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002021
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18177786
21101267
2923482
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002023
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002048
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002054
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18177786
21101267
2923482
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002058
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
20641963
2302834
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002070
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002079
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20711594
21101267
389674
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002080
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002082
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002102
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18177786
21101267
2923482
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002112
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002163
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18177786
21101267
2923482
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002181
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002220
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002300
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20690750
21101267
410518
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002375
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18177786
21101267
2923482
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002401
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002403
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20711594
21101267
389674
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002410
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002431
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18177786
21101267
2923482
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002491
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002504
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18167908
21101267
2933360
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002505
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18177786
21101267
2923482
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002562
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002587
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
20345217
2006088
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002612
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
20345217
2006088
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002638
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21040441
2701312
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002640
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002649
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20379137
21151128
771992
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002703
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
16913254
17322804
409550
NCBI36
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002738
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21040441
2701312
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002800
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21207225
2868096
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003771
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
20671425
2332296
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003838
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20732418
21091671
359254
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003852
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003867
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086366
2747237
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003914
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003915
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003936
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003982
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004011
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004017
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20726972
21207225
480254
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004031
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18178957
21151128
2972172
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004058
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18178957
21086225
2907269
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004072
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004091
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004093
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21207225
2868096
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004106
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20726972
21151128
424157
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004139
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21207225
2868096
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004165
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20400132
21151128
750997
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004178
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18177786
21101267
2923482
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004180
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004196
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004199
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20400132
21151128
750997
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004233
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18932229
20324381
1392153
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004278
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151269
2812140
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004329
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21454720
3115591
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004375
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004403
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20726972
21207225
480254
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004414
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21207225
2868096
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004452
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21207225
2868096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004463
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004478
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004482
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20604697
21025669
420973
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004519
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18145252
21151128
3005877
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004569
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18932429
20324240
1391812
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004577
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
20671566
2332437
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004579
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21207225
2868096
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004617
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086366
2747237
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004672
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004698
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151269
2812140
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004733
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004745
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
20588575
2249446
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004783
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21454720
3115591
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004834
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004837
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151269
2812140
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004847
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004849
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004868
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004941
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004943
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21207225
2868096
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004958
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21207381
2868252
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004977
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21207225
2868096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004998
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21207225
2868096
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005006
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086366
2747237
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005028
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18782633
19891514
1108881
NCBI36
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005030
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005034
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005038
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21101267
2762138
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005043
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005054
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005105
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21444466
3105337
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005134
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005140
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005172
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005181
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21086225
2747096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005246
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21207225
2868096
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005289
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18178957
21086225
2907269
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005331
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005346
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20354600
21053401
698802
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005351
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18145052
21086366
2941315
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005355
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151269
2812140
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005407
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21454720
3115591
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005410
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18339130
21151128
2811999
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005435
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21728091
21762392
34302
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1908
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
18889490
19008108
118619
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case1925
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
18901004
18989020
88017
Unknown
Duplication
No
kim_18_DD/ID_discovery_cases-case13
2.9 yrs.
M
Developmental delay and autistic behavior
Autistic behavior
Developmental delay
18166088
21446182
3280095
GRCh38
Duplication
No
kim_18_DD/ID_discovery_cases-case8
8 yrs.
F
Developmental delay/intellectual disability and autism
Autism, absent speech, dysmorphic features, failure to thrive, microcephaly, tetralogy of Fallot
Developmental delay/intellectual disability
18166088
21446182
3280095
GRCh38
Deletion
No
krumm_13_ASD_discovery_cases-case12481.p1
N/A
M
ASD
ASD proband from SSC quad family 12481. SRS score of 63.
Full-scale IQ (FSIQ) score of 42.
21015174
21119249
104076
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12680.p1
N/A
M
ASD
ASD proband from SSC quad family 12680. SRS score of 77.
Full-scale IQ (FSIQ) score of 47.
21769203
21772982
3780
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11969.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
20043354
20064662
21309
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12434.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19056985
19210509
153525
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12481.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
21015174
21031812
16639
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12598.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
20043354
20064662
21309
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12661.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
20742607
21031812
289206
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12686.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19048439
19057162
8724
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13859.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
18160171
20583393
2423223
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14259.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
18160171
21025898
2865728
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0759
22 yrs.
M
ASD, DD
Developmental milestones: language delay, motor delay. Family history: positive for schizophrenia (SCZ) and MDD.
IQ > 70
19295635
21510330
2214696
GRCh38
Duplication
N/A
kushima_18_ASD_discovery_cases-caseASD0843
24 yrs.
M
ASD
Family history: positive for stuttering.
IQ > 70
18904453
20324329
1419877
GRCh38
Duplication
N/A
kushima_18_ASD_discovery_cases-caseASD0851
16 yrs.
M
ASD, ADHD
Developmental milestones: language delay. Behavioral/psychiatric evaluation: ADHD. Family history: positive for MDD.
IQ > 70
18904453
21277123
2372671
GRCh38
Duplication
N/A
kushima_18_ASD_discovery_cases-caseASD0858
23 yrs.
M
ASD, ADHD
Behavioral/psychiatric evaluation: ADHD, echolalia. Family history: positive for schizophrenia (SCZ).
IQ > 70
18904453
21277123
2372671
GRCh38
Duplication
N/A
kushima_18_ASD_discovery_cases-caseASD0973
26 yrs.
F
ASD
Developmental milestones: motor delay. Family history: negative.
Intellectual disability (IQ < 70)
18904453
21277123
2372671
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0007
59 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 35 years of age (core symptoms include reference and persecutory delusions, hallucinations, avolition, social withdrawal, cognitive decline). Physical comorbidities: diabetes mellitus, hypertension, cerebral vascular diseases, abdominal neoplasm. Congenital and developmental phenotypes: cavernous malformation. Family history: negative.
IQ > 70
18159879
21387988
3228110
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0096
23 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 18 years of age (core symptoms include reference and persecutory delusions). Brain imaging: cavum septum pellucidum on brain MRI. EEG: abnormal EEG. Congenital and developmental phenotypes: cleft palate. Family history: negative.
Possible intellectual disability (IQ < 70)
18880919
21123588
2242670
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0320
33 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 24 years of age (core symptoms include cenesthopathy, auditory hallucinations, persecutory delusions, impulsive and self-destructive behavior). Physical comorbidities: appendicitis, uterine adnexitis. Congenital and developmental phenotypes: entropion. Family history: positive for alcohol dependence.
IQ > 70
18880919
20346734
1465816
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0459
20 yrs.
F
Schizophrenia, ID
Behavioral/psychiatric evaluation: onset of schizophrenia at 17 years of age (core symptoms include auditory hallucinations, negative symptoms). Physical comorbidities: febrile seizures. Congenital and developmental phenotypes: characteristic facies. Family history: negative.
Intellectual disability (IQ < 70)
18159879
21362822
3202944
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0497
18 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 15 years of age (core symptoms include delusions, hallucinations). Physical comorbidities: spasmodic torticollis. Family history: positive for intellectual disability (ID).
IQ > 70
20358985
21123588
764604
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0686
40 yrs.
F
Schizophrenia, ID
Behavioral/psychiatric evaluation: onset of schizophrenia at 32 years of age (core symptoms include auditory hallucinations, persecutory delusions, negative symptoms), mood symptoms. Brain imaging: mild frontal atrophy and right cerebellar atrophy on brain CT. Physical comorbidities: heart failure. Congenital and developmental phenotypes: perinatal asphyxia and hypoxia, Tetralogy of fallot, patent ductus arteriosus, dysarthria. Family history: negative.
Intellectual disability (IQ < 70)
18846939
21221413
2374475
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0858
57 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
20346735
21149007
802273
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0897
44 yrs.
F
Schizophrenia, ID
Behavioral/psychiatric evaluation: onset of schizophrenia at 19 years of age (core symptoms include persecutory delusions, auditory hallucinations, irritability, agitation). Physical comorbidities: acute cholecystitis, incomplete development of the mastoid cells. Congenital and developmental phenotypes: congenital hearing impairment. Family history: negative.
Intellectual disability (IQ < 70)
18159879
21362822
3202944
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1130
30 yrs.
M
Schizophrenia, ID
Behavioral/psychiatric evaluation: onset of schizophrenia at 23 years of age (core symptoms include auditory hallucinations, persecutory and grandiose delusions, negative symptoms). Brain imaging: mild frontal atrophy and left basal ganglia calcification on brain CT. Physical comorbidities: hypocalcemia on laboratory tests. Congenital and developmental phenotypes: atrial septal defect, dysarthria. Family history: negative.
Intellectual disability (IQ < 70)
18802709
21343709
2541001
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1228
52 yrs.
F
Schizophrenia, ID, epilepsy/seizures
Behavioral/psychiatric evaluation: onset of schizophrenia at 36 years of age (core symptoms include auditory hallucinations, persecutory delusions, impulsivity, violent outbursts, negative symptoms). Epilepsy/seizures: positive for epilepsy. Brain imaging: mild frontal atrophy and bilateral basal ganglia calcification on brain CT. Physical comorbidities: obesity, hypocalcemia on laboratory tests. Congenital and developmental phenotypes: ventricular septal defect, cleft palate. Family history: negative.
Intellectual disability (IQ < 70)
18880919
21123588
2242670
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1231
36 yrs.
F
Schizophrenia, ID
Behavioral/psychiatric evaluation: onset of schizophrenia at 25 years of age (core symptoms include delusions, hallucinations, manic and depressive symptoms, temper outburst, excitement), mood symptoms. Brain imaging: frontal atrophy and bilateral basal ganglia calcification on brain CT. Physical comorbidities: hyperthyroidism, peroneal nerve paralysis, food allergy. Congenital and developmental phenotypes: ventricular septal defect, cleft of soft palate, dysarthria. Family history: negative.
Intellectual disability (IQ < 70)
18159879
21387988
3228110
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1299
37 yrs.
F
Schizophrenia, ID
Behavioral/psychiatric evaluation: onset of schizophrenia at 33 years of age (core symptoms include auditory hallucinations, persecutory delusions, psychomotor agitation). Congenital and developmental phenotypes: tetralogy of Fallot. Family history: negative.
Intellectual disability (IQ < 70)
18832909
21123588
2290680
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1887
23 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
18163926
21277123
3113198
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1945
57 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
20346735
21277123
930389
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2214
53 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
18163926
21277123
3113198
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0759
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
18904452
21510330
2605879
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD0843
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
18904452
20324329
1419878
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD0851
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
18904452
21277123
2372672
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD0858
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
18904452
21277123
2372672
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD0973
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
18904452
21277123
2372672
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD1264
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
18158823
21277123
3118301
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0718
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
18904452
21277123
2372672
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD1173
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
20372008
21277123
905116
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD1655
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
18904452
21510330
2605879
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0007
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18159878
21387988
3228111
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0096
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18880918
21123588
2242671
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0320
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18880918
20695534
1814617
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0459
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18159878
21362822
3202945
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0497
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
20358984
21123588
764605
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0686
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18846938
21221413
2374476
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0858
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
20345218
21149007
803790
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0897
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18159878
21362822
3202945
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1130
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18802708
21343709
2541002
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1228
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18880918
21123588
2242671
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1231
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18159878
21387988
3228111
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1299
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18832908
21123588
2290681
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1887
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18163925
21277123
3113199
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1945
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
20345218
21277123
931906
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2214
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18163925
21277123
3113199
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2783
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18163925
21277123
3113199
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3718
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
18904452
20345218
1440767
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_cases-casePN400533
N/A
F
ASD
Diagnosis of atypical autism (ADOS=8). Motor and musculoskeletal evaluation: scoliosis. Behavioral/psychiatric evaluation: signs of attention deficit and hyperactivity. Epilepsy/seizures: convulsions at 4-7 days after birth. Additional medical history: recurrent infections (mainly in the lungs and urinary tract). Dysmorphic features: flat broad face, high forehead, thick veins visible on the forehead, mild facial asymmetry (prominent right half), synophrys, low-set ears, high nasal bridge.
Full-scale IQ 79, performance ID 75, verbal IQ 86
18339130
21222010
2882881
GRCh38
Deletion
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case25
6 yrs.
M
Intellectual disability
Intellectual disability
18929329
19037146
107818
GRCh38
Triplication
No
leite_22_DD/ID_discovery_cases-case022
12 yrs.
F
Developmental delay
Global developmental delay
20362611
21111373
748763
GRCh38
Deletion
No
leite_22_DD/ID_discovery_cases-case036
15 yrs.
M
Developmental delay
Global developmental delay
18339129
21442553
3103425
GRCh38
Deletion
No
leite_22_DD/ID_discovery_cases-case082
26 yrs.
F
Developmental delay
Global developmental delay, multiple stigmas
18339129
21111370
2772242
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU001804
N/A
M
ASD
Raven's non-verbal IQ 131, PPVT 74
18339130
21107711
2768582
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1794302
N/A
N/A
ASD
SRS total score 111
Raven's non-verbal IQ N/A, PPVT 79
18339130
21223112
2883983
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1957302
N/A
M
ASD
20439713
21106711
666999
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU3052301
N/A
N/A
ASD
Vineland 216
Raven's non-verbal IQ 104, PPVT 86, Binet 82
18339130
20674658
2335529
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11969.p1
NA
M
ASD
NA
NA
20043290
20074114
30825
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12239.p1
NA
M
ASD
NA
NA
18881995
20325738
1443744
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-12239.p1
NA
M
ASD
NA
NA
20353620
21111565
757946
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-12434.p1
NA
M
ASD
NA
NA
19053635
19210781
157147
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case16
2 yrs 8 months
M
Developmental delay and epilepsy
Feeding difficulties (velopharyngeal insufficiency with nasal reflux), mild gross motor delay, speech/language delay (no speech), developmental delay, seizures. Dysmorphic features and congenital anomalies: bitemporal narrowing, broad nasal root, mild telecanthus, laryngobronchio malacia.
18339130
21106369
2767240
GRCh38
Deletion
No
li_18_ASD_discovery_cases-case4701
N/A
M
ASD
Diagnosis of ASD made according to DSM-IV
18655585
18894169
238584
GRCh37
Duplication
No
mahjani_21_ASD_discovery_cases-case177
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
18339129
21109441
2770313
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case178
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
18339129
21109441
2770313
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case179
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
18339129
21109441
2770313
GRCh38
Duplication
No
mahjani_21_ASD_discovery_cases-case180
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
18339129
21109441
2770313
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case181
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
18339129
21109441
2770313
GRCh38
Deletion
No
mahjani_22_OCD/CTD_discovery_cases-case2
NA
F
OCD
Case diagnosed with obsessive compulsive disorder (OCD) at 34 years of age.
18890273
21445760
2555488
GRCh38
Deletion
No
mahjani_22_OCD/CTD_discovery_cases-case8
NA
M
OCD
Case diagnosed with obsessive compulsive disorder (OCD) at 18 years of age.
18890273
21107318
2217046
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case124
3 yrs.
F
Developmental delay and intellectual disability
Birth history: born at 38 weeks gestation following a pregnancy marked by gestational diabetes and hypertension. Developmental milestones: motor delay, language delay. Language and communication evaluation: no language disorder or absent speech. Musculoskeletal evaluation: long fingers. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: cerebral malformations, neurological anomalies. Dysmorphic features: posteriorly rotated ears with prominent antihelix. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Mild intellectual disability
20400132
21086252
686121
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown121
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
18339130
21106306
2767177
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown122
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
18339130
20393539
2054410
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown123
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
18339130
21086225
2747096
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown124
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
18339130
21086225
2747096
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown125
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
20968873
21086225
117353
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0119-003
NA
M
Below ASD cutoffs
RL/EL moderate/severe delay, severe dysmorphism, velocradiofacial syndrome
IQ/LOF 77
18157579
21107357
2949779
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0323-003
NA
M
ASD
Severe language delay , very severe repetitive behavior
IQ/LOF 43
18683900
19427000
743100
NCBI35
Duplication
Yes
miclea_22_DD/ID_discovery_cases-case161
NA
NA
Developmental delay and intellectual disability
Global developmental delay, dysmorphic features, cardiac malformation, renal malformation
Intellectual disability
18901976
21443523
2541548
GRCh38
Deletion
No
miclea_22_DD/ID_discovery_cases-case173
NA
NA
Developmental delay and intellectual disability
Global developmental delay, ataxia
Intellectual disability
18890273
19020595
130323
GRCh38
Duplication
No
miclea_22_DD/ID_discovery_cases-case178
NA
NA
Developmental delay and intellectual disability
Global developmental delay, dysmorphic features
Intellectual disability
18907713
19020595
112883
GRCh38
Duplication
No
miclea_22_DD/ID_discovery_cases-case67
NA
NA
Developmental delay and intellectual disability
Global developmental delay, obesity, dysmorphic features
Intellectual disability
18899401
21108064
2208664
GRCh38
Deletion
No
miyake_23_ASD_discovery_cases-case8385
NA
M
ASD
Case clinically diagnosed with ASD based on DSM-V criteria.
19060815
20090204
1029390
GRCh38
Duplication
Yes
monteiro_19_ASD_discovery_cases_case19
N/A
M
ASD
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Dysmorphic features: none reported.
18907322
19177503
270182
GRCh38
Duplication
No
monteiro_19_ASD_discovery_cases_case28
N/A
M
ASD
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: normal (no developmental delay). Dysmorphic features: present. Growth parameters: macrocephaly.
Normal (no intellectual disability)
18921531
19159944
238414
GRCh38
Duplication
No
mulle_13_SCZ_discovery_cases_1-caseAJ_8158_1
N/A
N/A
Schizophrenia
N/A
N/A
18159378
21373837
3214460
GRCh38
Deletion
Yes
mulle_13_SCZ_discovery_cases_1-caseAJ_8280_1
N/A
N/A
Schizophrenia
N/A
N/A
18168200
21486464
3318265
GRCh38
Deletion
Yes
mulle_13_SCZ_discovery_cases_1-caseAJ_8554_1
N/A
N/A
Schizophrenia
N/A
N/A
18339130
21573601
3234472
GRCh38
Deletion
Yes
nord_11_ASD_discovery_cases-243-1
ASD
17255955
17398637
142683
Unknown
Deletion
Yes
oikonomakis_16_ASD_discovery_cases-case102
36 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: psychotic behavior
18907322
19022995
115674
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case615
1 yr.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hyperactivity
18907322
19022995
115674
GRCh38
Duplication
No
oikonomakis_16_ASD_discovery_cases-case715
11 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: obesity
18718488
19022995
304508
GRCh38
Duplication
No
oyetunji_20_ASD/DD/ID_discovery_cases-case1
14 yrs.
M
ASD, ADHD, and intellectual disability
Proband diagnosed with ASD (DSM-5 criteria). Birth/neonatal history: no information regarding pregnancy, delivery, or in utero exposures. Developmental milestones: ages at which he met specific milestones not available. Motor and musculoskeletal evaluation: joint hypermobility; fleshy and hyperflexible large hands with dimples at the metacarpophalangeal joints; fifth finger clinodactyly; large and broad hands and feet; malaligned toes; curvature of the second and third toes. Behavioral/psychiatric evaluation: ADHD; history of depression and psychosis with episodic auditory hallucinations, behavioral outbursts, sleep disturbance, overeating. Dysmorphic features: coarse red hair, soft skin (cutis marmorata), large head, flat occiput, long philtrum, small chin, protruding and cupped ears; crease on the soles of the feet between first and second toes. Growth parameters: large for age; central obesity; head circumference 57.5 cm (98th %ile); total hand length 19.8 cm (>97th %ile); mild finger length 8.3 cm (97th %ile); weight 109.9 kg (97th %ile); height 176 cm (92nd %ile); wears a size 14 shoe. Family history: adopted at 8 years of age by paternal grandmother and step grandfather; family history is positive for one maternal twin half-brother with cerebral palsy, hydrocephalus, blindness, and death at 3 years (the other maternal twin half-brother is 10 years with no recognized problems), a paternal grandmother with dyslexia, a paternal half-uncle with dyslexia, dystonia, and autistic features, and his biological father with seizures, hydrocele and large feet (no information available regarding his biological mother).
Learning problems; WISC-IV Verbal Comprehension Index score 121 (92nd %ile) with a full scale IQ 70 (2nd %ile)
18339130
21111370
2772241
GRCh38
Duplication
No
oyetunji_20_ASD/DD/ID_discovery_cases-case2
6 yrs.
M
ASD and developmental delay
Proband diagnosed with ASD (ADOS-2, CARS-2, DSM-V). Birth/neonatal history: no history of alcohol, drug, or tobacco use during pregnancy; delivered vaginally at 39 weeks gestation; birth weight 4.1 kg (98th %ile); jaundice at birth (no treatment required). Developmental milestones: speech delay (first words at 2 years, phrases at 3 years, sentences at 4 years); fine motor delay. Additional medical history: diagnosed in early childhood with immune problems including celiac disease and allergic reactions to bananas and strawberries; low ferritin levels. Dysmorphic features: prominent forehead, downslanted palpebral fissures, triangular face, small chin, thin upper lip vermillion, long philtrum, starburst appearance to eyes. Growth parameters: head circumference 49.2 cm (3rd %ile), hand length 12.7 cm (10th %ile), middle finger length 5.3 cm (10th %ile). Family history: no history of medical, emotional, or learning problems in the mother; limited information available for his father; healthy 10-year-old sister and 2-year-old half-brother meeting developmental milestones; history of autism in a 9-year-old cousin and a 65-year-old maternal grandfather with connective tissue disorder.
20371018
21111370
740353
GRCh38
Duplication
No
panigrahi_24_ASD/DD/ID_discovery_cases-case14
5 yrs.
M
ASD and intellectual disability
Autism spectrum disorder.
Intellectual disability
18983048
21111370
2128323
GRCh38
Duplication
No
pfundt_16_NDD_discovery_cases-case100
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: 22q11 duplication syndrome
21052248
22559408
1507161
GRCh38
Duplication
No
pfundt_16_NDD_discovery_cases-case106
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: 22q11 duplication syndrome
18167254
20973521
2806268
GRCh38
Duplication
No
pfundt_16_NDD_discovery_cases-case117
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: PRODH deletion
18642938
19011064
368126
GRCh37
Deletion
No
pfundt_16_NDD_discovery_cases-case127
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: PRODH deletion
18650021
19011064
361043
GRCh37
Deletion
No
pfundt_16_NDD_discovery_cases-case19
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: 22q11 duplication syndrome
18339130
20721419
2382290
GRCh38
Duplication
No
pfundt_16_NDD_discovery_cases-case52
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: PRODH deletion
18906222
18936554
30333
GRCh38
Deletion
No
pfundt_16_NDD_discovery_cases-case70
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: 22q11 deletion syndrome
18339130
21551462
3212333
GRCh38
Deletion
Yes
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient4
N/A
M
ASD and intellectual disability
Case met criteria for ASD diagnosis, exceeding ADOS and ADI thresholds in all areas. Developmental milestones: motor delay; language delay. Behavioral/psychiatric evaluation: depressed mood. Brain imaging: cerebral venous malformation detected on brain MRI. Family history: brother of maternal grandfather affected by intellectual disability; maternal grandmother affected by thyroid cancer.
Moderate cognitive impairment (TIQ score of 41)
18907322
19022995
115674
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case3067_005
NA
M
Autism
No epilepsy
Normal IQ
20367174
21111491
744318
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case3127_004
NA
M
ASD
Violent outbursts of aggression, severe learning difficulties, no language delay, articulation difficulties, limited and repetitive speech, abnormal EEG but no seizures, fine and gross motor problems, visuospatial difficulties, protruding tongue, several raised skin lesions (amelanotic and caf au lait) on trunk, forehead and back of his neck (history of caf au lait spots in the maternal family)
Normal IQ
18339130
21109441
2770312
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case3183_007
NA
M
Asperger
Complex language disorder with receptive and expressive difficulties; neonatal feeding difficulties, frequent diarrhea, failure to thrive, constant noisy respirations, recurrent chest and ear infections, walked at 18 m, no epilepsy, no dysmorphic features noted, head circumference P93, height P20, intermident squint; normal brain MRI and sleep EEG; 22q11 deletion syndrome (DiGeorge/velocardiofacial syndrome)
NA
18339130
21135629
2796500
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5261_4
NA
F
Autism
Below average language (4%ile), no epilepsy, no dysmorphic features; 22q11 duplication syndrome
Above average nonverbal IQ (96%ile)
18339130
21111491
2772362
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5378_3
NA
M
Autism
Below average language (1%ile), no epilepsy, sleep problems
Unable to complete IQ measure
20379205
20674658
295454
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5510_3
NA
M
ASD
NA
NA
17051550
17388108
336559
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case6057_3
NA
M
Autism
No phrases, normal physical exam, no epilepsy; brain MRI: white matter hyperintensities. Younger brother: autism, MR, no language, normal physical exam, no epilepsy; brain MRI: delayed myelinization
MR
19221842
19341132
119291
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case6340_3
NA
M
Autism
No language delay, chronic otitis, normal physical exam, no epilepsy, brain MRI: Arnold Chiari type I
Mild MR
21562901
21593355
30455
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case16074_1571042001
N/A
M
ASD
Autism, 3 words, lost language at age 2 with fever-induced seizures, tall, encopresis. Family history: father slow in school, mother unaffected; sibling with ADHD (not tested).
Moderate ID (Leiter Brief at 27 y: PIQ 42)
18339130
21109441
2770312
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case17015_1
N/A
M
ASD
Autism (based on ADI-R and ADOS), language delay (first words 30 mo, phrases 60 mo), walked at 14 mo, verbal, normal weight (BMI 20.44), no dysmorphic features or other anomalies, normal neurological exam, no epilepsy. Family history: both parents unaffected.
No ID (Raven's Standard Progressive Matrices NVIQ 86, PPVT VIQ 72)
18339130
21111491
2772362
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case4271_1
N/A
M
ASD
Case previously reported in Griswold et al. 2012a (family 17164). Autism (based on medical history and ADI-R), ADHD, speech delay until 4 y, learning disability in written expression; normal CT and MRI, nonspecific EEG changes, seizures/staring spells/breath holding. Family history: unaffected sibling (no CNV); mother with attention deficit disorder, dyslexia, and hypothyroidism; father unaffected.
Normal to superior IQ (WISC 8 y: FSIQ 104; Differential Ability Scales 9 y: VCIQ 142, NVCIQ 152, SCIQ 154)
18339130
21111491
2772362
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case8627_201
N/A
M
ASD
Autism on ADI-R and ADOS, bipolar disorder, born premature; physical exam at 19 y: head circumference >+2 SD, obesity (108 kg), height +1 SD, no epilepsy . Family history: father with mood disorder, rigidity and social inappropriateness; mother healthy; two healthy brothers (not tested).
Normal IQ (VIQ 112, PIQ 109, FSIQ 112)
18339130
21109441
2770312
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case04HI2802A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU067403; NDAR ID NDAR_INVMW859JCC)
20708045
20786150
78106
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0168A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU001703; NDAR ID N/A)
18916888
19089492
172605
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case100141
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
16655766
16681025
25260
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case100677L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
18504319
18513815
9497
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case118909L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
16366405
16373681
7277
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case124632L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
16366405
16378278
11874
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case154269L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
17274139
20142179
2868041
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case46407
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
17031414
19794260
2762847
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case76066
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
17031414
19794260
2762847
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_122
6 yrs.
F
Intellectual disability
Psychomotor delay, epileptic encephalopathy, microcephaly. CNV inherited from unaffected parent.
Intellectual disability
18166099
21111370
2945272
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_167
6 yrs.
M
ASD, intellectual disability, and epilepsy
ASD, epilepsy, cryptorchidism
Profound intellectual disability
18339130
21111370
2772241
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_176
16 yrs.
M
Intellectual disability
Microcephaly, dysmorphic facial features
Mild intellectual disability
18929329
20325138
1395810
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_198
6 yrs.
F
ASD, intellectual disability, and epilepsy
Epilepsy, ASD, hyperactivity, dysmorphic facial features.
Intellectual disability
18929329
20324381
1395053
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_305
10 yrs.
M
Intellectual disability and ADHD
ADHD. Incomplete parental clinical history.
Mild intellectual disability
20374666
21111370
736705
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_377
8 yrs.
M
Intellectual disability and ADHD
ADHD, dysmorphic features
Intellectual disability
18162023
21444618
3282596
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_382
13 yrs.
M
Intellectual disability
Clumsiness, triangular face shape
Intellectual disability
20374666
21111370
736705
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_468
1 yr.
F
Developmental delay
Dysmorphic facial features
Global developmental delay
18339130
21111370
2772241
GRCh38
Deletion
No
reinthaler_14_EP_discovery_cases-caseAVRE04
N/A
N/A
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
18339130
21845711
3506582
GRCh38
Duplication
No
reinthaler_14_EP_discovery_cases-caseF3-II.1
N/A
M
Epilepsy
Epilepsy phenotype: rolandic epilepsy. Seizures: febrile seizures (age of onset, 0.5 yrs.); nocturnal tonic-clonic seizures (age of onset, 5 yrs.). EEG: centrotemporal spikes. MRT/CT: normal. Neuropsychological development: normal. Language development: normal. Family history: negative. Additional genetic information: case also carries 16p11.2 duplication.
18483514
20345217
1861704
GRCh38
Duplication
No
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase23
6 yrs.
F
Learning disability (developmental delay/intellectual disability)
Seizures
18139792
21456205
3316414
GRCh38
Duplication
Yes
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase24
32 yrs.
F
Learning disability (developmental delay/intellectual disability)
Dysmorphism
18927136
19967262
1000000
NCBI36
Deletion
Yes
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase24
32 yrs.
F
Learning disability (developmental delay/intellectual disability)
Dysmorphism
18173931
20345217
2171287
GRCh38
Deletion
Yes
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase25
8 yrs.
F
Learning disability (developmental delay/intellectual disability)
No reported clinical features
18339130
21273874
2934745
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case10361
NA
NA
ASD
NA
NA
17313884
19687285
2373401
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case12612
NA
NA
ASD
NA
NA
17313884
19687285
2373401
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case13282
NA
NA
ASD
NA
NA
19027821
19687285
659464
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case20534
NA
NA
ASD
NA
NA
17313884
19687285
2373401
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case20723
NA
NA
ASD
NA
NA
17313884
19687285
2373401
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case21380
NA
NA
ASD
NA
NA
17313884
19687285
2373401
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case22610
NA
NA
ASD
NA
NA
17313884
19687285
2373401
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case24490
NA
NA
ASD
NA
NA
19027821
19687285
659464
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case3365
NA
NA
ASD
NA
NA
17313884
19687285
2373401
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case9591
NA
NA
ASD
NA
NA
19027821
19687285
659464
Unknown
Duplication
Yes
saia_23_TS_discovery_cases-case2
NA
M
Tourette syndrome and ADHD
Case diagnosed with Tourette syndrome (YGTSS score 12). Motor and musculoskeletal evaluation: fifth finger clinodactyly, fetal finger pads, hypotonia. Behavioral/psychiatric evaluation: ADHD. Dysmorphic features: broad forehead, thick eyebrows, epicanthus, horizontal eyelid rhymes, low-set and large ears, hypoplasia of the tragus, flat filter, protruding columella, ogival palate, thin upper lip.
Learning disabilities
18158641
21086225
2927585
GRCh38
Duplication
Yes
saia_23_TS_discovery_cases-case8
NA
M
Tourette syndrome and OCD
Case diagnosed with Tourette syndrome (YGTSS score 34). Language and communication evaluation: speech disorder. Motor and musculoskeletal evaluation: fifth finger clinodactyly, mild hypotonia, bilateral 2-3 toe syndactyly, finger-like thumbs. Behavioral/psychiatric evaluation: obsessive compulsive disorder (OCD), behavior disorder. Dysmorphic features: large eyes with low implantation, sparse eyebrows, horizontal eyelid rhymes, hypolorism, short filter, ogival palate. Family history: father also has Tourette syndrome and OCD.
20400131
21086225
686095
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1329-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: no.
Developmental delay: yes. Intellectual disability: yes.
18834973
19020595
185623
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-350a1
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: N/A. Seizures: yes (onset at 16 months).
Developmental delay: no. Intellectual disability: N/A.
18834973
18978115
143143
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11030.p1
8.3
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11045.p1
8.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
18710895
19051539
340644
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11164.p1
7.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 107; verbal IQ, 89
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11212.p1
16.1
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 118; verbal IQ, 117
18719310
19051539
332229
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11227.p1
9.7
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
21454713
21457702
2990
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11250.p1
14.8
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
20595570
20596277
708
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11262.p1
6.2
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 89
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11275.p1
14.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
18710895
19028139
317244
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11304.p1
5.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 61; verbal IQ, 47
18710895
19028139
317244
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11331.p1
5.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11348.p1
7.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 64
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11391.p1
15.2
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 113
18564786
18641545
76760
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11436.p1
4.8
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
18564786
18617526
52741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11437.p1
16.6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
18710895
19028139
317244
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11470.p1
8.7
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 76
20595570
20596277
708
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
19995491
19997984
2494
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11541.p1
10.3
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11563.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
19797483
19805189
7707
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11629.p1
17.6
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
21352381
21393389
41009
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11629.p1
17.6
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
21460639
21555991
95353
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11644.p1
17
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
19797483
19805189
7707
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11753.p1
17.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
21352381
21393389
41009
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11773.p1
13.1
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 28
21460639
21486271
25633
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11775.p1
9.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
21352381
21380169
27789
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11800.p1
13.3
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
21339407
21393389
53983
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11831.p1
10.5
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 110
21339407
21393389
53983
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
21339407
21441367
101961
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
21460639
21486271
25633
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
18871412
18990333
118921
NCBI36
Deletion
No
sanders_11_ASD_discovery_cases-12160.p1
8.3
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 108; verbal IQ, 86
21460639
21560363
99725
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12239.p1
9.1
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
18890274
20330249
1439976
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12239.p1
9.1
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
20378519
21109441
730923
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12299.p1
6.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 125
21460639
21497015
36377
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12314.p1
6.2
M
ASD
NA
Full-scale IQ, 116; non-verbal IQ, 121; verbal IQ, 103
20595570
20596277
708
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12395.p1
5.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
21363009
21380169
17161
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12405.p1
6.3
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99
21363009
21393389
30381
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12434.p1
5.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106
19046019
19210716
164698
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12434.p1
5.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106
21352381
21432911
80531
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12481.p1
5.6
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 47; verbal IQ, 37
21020261
21111491
91231
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12539.p1
7.9
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
21352381
21380169
27789
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12587.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 98; verbal IQ, 98
18489443
18641740
152298
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12587.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 98; verbal IQ, 98
21460639
21497015
36377
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12587.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 98; verbal IQ, 98
21332472
21380169
47698
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12598.p1
17.4
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 83; verbal IQ, 34
20042355
20072240
29886
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12624.p1
7.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 47; verbal IQ, 27
21363009
21393389
30381
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12656.p1
10.9
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
21339407
21393389
53983
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
20378519
21002277
623759
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
21020261
21100836
80576
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12742.p1
4.8
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
21339407
21393389
53983
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12832.p1
6.3
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12832.p1
6.3
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
21339407
21380169
40763
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12878.p1
6.1
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
20773649
20777866
4218
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13007.p1
13.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 107; verbal IQ, 67
21332472
21393389
60918
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13014.p1
16.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 103
18871412
19028139
156727
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-13053.p1
4.6
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
18871412
18985792
114380
NCBI36
Deletion
No
sanders_11_ASD_discovery_cases-13244.p1
15.7
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 74; verbal IQ, 63
18339130
18659564
320435
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT185
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
19722591
19768005
45415
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT7
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
18901525
19022995
121471
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case20
3 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
18178957
21151128
2972172
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case34
2 yrs.
M
Developmental delay/intellectual disability and ASD
Developmental delay/intellectual disability, ASD, Dysmorphism
18718488
18997006
278519
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case37
3 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
18178957
21151128
2972172
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case54
2 mos.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
18178957
21151128
2972172
GRCh38
Deletion
No
shin_15_ASD/DD/ID_discovery_cases-case14
7 yrs.
M
Intellectual disability
Intellectual disability, full cheeks, bulbous nose, low set ears, narrow forehead
Intellectual disability
18339130
21446182
3107053
GRCh38
Deletion
Yes
speevak_11_DD_discovery_cases-case1
4.5 yrs.
M
Developmental delay/speech delay
Developmental milestones: significant speech delay (first words at 2 yrs.; at 4.5 yrs., patient was only able to use a few words in a sentence, which were not easily understood). Behavioral characteristics: aggressive behavior, autistic traits (spitting and rocking with excessive hand movements and solitary play noted at 3.5 yrs.; however, a differential diagnosis of ASD ruled out by psychiatric assessment at the time, but no specific diagnosis was suggested). Dysmorphic features: no major dysmorphic or congenitally abnormal features, other than mild 2-3 toe syndactyly. Growth parameters: height, 90th %ile; wieght, 50th %ile; head circumference, 10th %ile.
18339130
18659564
320435
GRCh38
Duplication
No
speevak_11_DD_discovery_cases-case1
4.5 yrs.
M
Developmental delay/speech delay
Developmental milestones: significant speech delay (first words at 2 yrs.; at 4.5 yrs., patient was only able to use a few words in a sentence, which were not easily understood). Behavioral characteristics: aggressive behavior, autistic traits (spitting and rocking with excessive hand movements and solitary play noted at 3.5 yrs.; however, a differential diagnosis of ASD ruled out by psychiatric assessment at the time, but no specific diagnosis was suggested). Dysmorphic features: no major dysmorphic or congenitally abnormal features, other than mild 2-3 toe syndactyly. Growth parameters: height, 90th %ile; wieght, 50th %ile; head circumference, 10th %ile.
17041749
17119280
77500
NCBI36
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family61_Twin_2
N/A
N/A
Psychiatric disease
Case is from a monozygotic twin pair from the Discordant psychiatric diagnostic group
20354351
20410704
56354
GRCh38
Duplication
No
stobbe_13_ASD_discovery_cases-case19
27 yrs.
M
Intellectual disability and MCA
Multiple congenital anomalies: cleft palate, prominent nose, congenital heart defect, imperforate anus. Negative family history. Karyotype and Fragile X testing: not performed.
Intellectual disability
18339130
21106361
2767232
GRCh38
Deletion
No
streata_22_ASD/DD/ID_discovery_cases-case137
NA
M
ASD and intellectual disability
Autism spectrum disorder, speech and/or language delay or impairment, facial dysmorphism.
Mild/moderate intellectual disability
18907321
21151128
2243808
GRCh38
Duplication
Yes
streata_22_ASD/DD/ID_discovery_cases-case290
NA
F
ASD and intellectual disability
Autism spectrum disorder, speech and/or language delay or impairment, congenital anomalies, facial dysmorphism.
Mild/moderate intellectual disability
18777588
21307146
2529559
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR063-A10-HI1180
NA
ASD
NA
NA
18339130
21095157
2756028
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR063-B1-HI1183_2
NA
ASD
NA
NA
18339130
21627957
3288828
GRCh38
Duplication
Yes
tammimies_15_ASD_discovery_cases-case3-0437-000
N/A
M
ASD
Agenesis of the corpus callosum. Dysmorphic features: macrocephaly, low hairline, thick coarse hair, ear asymmetry, hypoplasia of the left superior crus, wide spaced incisors, misplaced canines.
Normal intelligence (IQ of 108)
18166423
21561232
3394810
GRCh38
Duplication
No
tropeano_13_DD/ASD_discovery_cases-case11
2 yrs.
F
Developmental delay
Ectopic kidney, microcephaly, renal failure, small for age, urinary tract infection
Developmental delay
21028615
24596035
3567421
GRCh38
Duplication
No
tropeano_16_ASD_discovery_cases-MAAS15
20-29 yrs.
F
ASD
Case diagnosed with Asperger's syndromebased on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 1.
18339130
21086225
2747096
GRCh38
Deletion
Yes
tropeano_16_ASD_discovery_cases-MAAS23
20-29 yrs.
M
ASD
Case diagnosed with Asperger's syndrome based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R.
18339130
21444466
3105337
GRCh38
Duplication
Yes
tropeano_16_ASD_discovery_cases-MAAS24
40-49 yrs.
F
ASD
Case diagnosed with autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 2.
18339130
21086225
2747096
GRCh38
Deletion
Yes
tropeano_16_ASD_discovery_cases-MAAS27
20-29 yrs.
M
ASD
Case diagnosed with atypical autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 1.
18339130
21086225
2747096
GRCh38
Deletion
Yes
tropeano_16_ASD_discovery_cases-MAAS6
30-39 yrs.
F
ASD
Case diagnosed with autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 1.
18339130
21086225
2747096
GRCh38
Deletion
Yes
tzetis_12_DD/ID_discovery_cases-case56
M
DD/ID
Typical DiGeorge syndrome
18178957
21151128
2972172
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case57
F
DD/ID
Typical DiGeorge syndrome
18339130
21109830
2770701
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case59
F
DD/ID
Typical DiGeorge
18339130
21109830
2770701
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case80
M
ASD + Epilepsy
Seizures, corpus callosum dysgenesis, sagittal artery thrombosis, ASD
18339130
22791630
4452501
GRCh38
Duplication
No
wang_18_TS_discovery_cases-caseC1008-03
N/A
N/A
Tourette syndrome
Tourette syndrome proband from phase 1 cohort; no additional clinical information available
18169791
20345217
2175427
GRCh38
Duplication
No
wenger_16_ASD_discovery_cases-case21
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: 22q11.2DS
18339130
21108064
2768935
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case22
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
18339130
21108064
2768935
GRCh38
Duplication
No
wenger_16_ASD_discovery_cases-case23
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: Atypical nested 22q11.2 DupS
18339130
20418308
2079179
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case24
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
18339130
20410305
2071176
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case26
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: Atypical nested 22q11.2DS
18890274
20307897
1417624
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case27
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: Atypical nested 22q11.2DS
18890274
20307897
1417624
GRCh38
Deletion
No
woodbury-smith_20_BAP_discovery_cases-case2-1005-002
N/A
M
Broader autism phenotype
Individual assessed as having broader autism phenotype (BAP) based on BAP Questionnaire. CNV not inherited by the male offspring of this individual (diagnosed with ASD)
18339130
21105931
2766802
GRCh38
Duplication
No
woodward_19_ASD/DD/ID_discovery_cases-case1
12 yrs. 6 mos.
M
ASD, DD, and ID
Birth/neonatal history: born after uncomplicated pregnancy and delivered by non-elective caesarean section due to fetal distress; birth weight of 3,575 grams. Developmental milestones: severe global developmental delay; concerns about limited speech and interactions from about 20 months. Language and comunication evaluation: speech at 11 years of age included 7-8 word sentences with limited comprehension and echolalia. Behavioral/psychiatric evaluation: ASD, motor stereotypies (hand flapping). Dysmorphic features: tall forehead, posteriorly rotated prominent ears, slightly deep-set eyes, upslanting palpebral fissures, widow's peak, sparse eyebrows. Growth parameters: relative macrocephaly (head circumference 98th %ile); height 50th %ile, weight 90th-97th %ile. Family history: patient has similarly affected sibling and asymptomatic father (both of whom have the 22q11.2 duplication); patient also has a brother with bladder exstrophy who had not been tested by microarray; no family history of autistic features or intellectual disability (history of recurrent miscarriage).
Intellectual disability
20379377
21108064
728688
GRCh38
Duplication
No
woodward_19_ASD/DD/ID_discovery_cases-case10
5 yrs. 1 mo.
M
Autistic features and speech delay
Birth/neonatal history: born vaginally at 41 weeks gestation. Developmental milestones: early motor milestones were achieved; early speech and language delay; fine motor difficulties. Motor and musculoskeletal evaluation: broad fingers of average length. Behavioral/psychiatric evaluation: behavioral issues including preference for structure and anxiety following changes in routine (currently no formal diagnosis of ASD), sensory processing issues, high pain threshold. Auditory evaluation: conductive hearing loss. Dysmorphic features: unilateral cleft lip, submucous cleft palate, tall forehead, almond-shaped eyes, long eyelashes, upslanting palpebral fissures. Family history: asymptomatic mother with 22q11.21 duplication.
20737352
21108064
370713
GRCh38
Duplication
No
woodward_19_ASD/DD/ID_discovery_cases-case12
7 yrs. 11 mos.
M
Autistic features
Developmental milestones: motor age appropriate with no speech delay at 5 years; development at 7 years found to be within normal limits apart from reading skills. Motor and musculoskeletal evaluation: involuntary movements. Behavioral/psychiatric evaluation: complex motor stereotypies with repetitive jumping, hand flapping, and clenching of hands and face; mood issues; sleep disturbance. Brain imaging: normal brain MRI at 4 years. Urogenital evaluation: macroscopic hematuria (normal kidney ultrasound). Growth parameters: weight 50th %ile, height 50th %ile, and head circumference 75th %ile at 7 years 11 months. Family history: family history of anxiety and obsessive-compulsive tendencies.
20737352
21108064
370713
GRCh38
Duplication
No
woodward_19_ASD/DD/ID_discovery_cases-case13
14 yrs.
M
ASD and DD
Birth/neonatal history: pregnancy complicated by undiagnsoed gestational diabetes; born at term by spontaneous vaginal delivery; birth weight of 3,400 grams. Developmental milestones: global developmental delay (gross motor delay in association with toe walking, speech and language delay). Motor and musculoskeletal evaluation: hypotonia at 7 months of age; reduced dorsiflexion in both ankles. Behavioral/psychiatric evaluation: diagnosis of ASD, variable motor stereotypies (hand movements, pacing, toe walking), anxiety, difficulties with social interaction and coping with change. Brain imaging: normal head CT scan at 7 months of age. Dysmorphic features: tall forehead, prominent jaw. Growth parameters: height 98th %ile, weight 98th %ile, head circumference 98th %ile at 14 years of age. Family history: only child of non-consanguineous parents; no history of developmental difficulties in the immediate family; paternal sample not available for testing.
Borderline IQ at age of 4 years (FSIQ 79, WPPSI III)
20707983
21108064
400082
GRCh38
Duplication
No
woodward_19_ASD/DD/ID_discovery_cases-case2
10 yrs. 9 mos.
F
ASD, DD, and ID
Birth/neonatal history: delivered at term by elective lower segment caesarean section; birth weight 3,060 grams. Developmental milestones: developmental delay. Behavioral/psychiatric evaluation: ASD, anxiety, obsession with food, pica. Dysmorphic features: tall forehead, posteriorly rotated ears, deep-set eyes. Growth parameters: relative macrocephaly (head circumference 98th %ile); height 50th %ile, weight 97th %ile. Family history: patient has similarly affected sibling and asymptomatic father (both of whom have the 22q11.2 duplication); patient also has a brother with bladder exstrophy who had not been tested by microarray; no family history of autistic features or intellectual disability (history of recurrent miscarriage).
Intellectual disability
20379377
21108064
728688
GRCh38
Duplication
No
woodward_19_ASD/DD/ID_discovery_cases-case4
12 yrs. 3 mos.
F
ASD, DD, and ID
Birth/neonatal history: born at term. Developmental milestones: severe developmental delay. Language and communication evaluation: absent speech (non-verbal at 12 years). Behavioral/psychiatric evaluation: severe ASD, self-injurious behavior. Epilepsy/seizures: epilepsy. Brain imaging: non-specific mild increase in flair signal noted within the periventricular white matter of both parietal lobes on MRI at 6 years of age; otherwise normal. Dysmorphic features: none. Growth parameters: short stature (height 25th %ile); obesity (weight > 97th %ile). Family history: two other affected siblings (also had 22q11.21 duplication); mother was of normal intelligence with short stature and obesity.
Severe intellectual disability
20602619
20721249
118631
GRCh38
Duplication
No
woodward_19_ASD/DD/ID_discovery_cases-case5
6 yrs. 6 mos.
M
ASD, DD, and ID
Birth/neonatal history: placental insufficiency and twin-to-twin transfusion noted during pregnancy; born at 32 weeks gestation by caesarean section; birth weight 1,800 grams. Developmental milestones: global developmental delay. Language and communication evaluation: moderate language impairment. Behavioral/psychiatric evaluation: ASD. Brain imaging: normal neonatal ultrasound. Growth parameters: short stature (height 3rd %ile), weight 50th-75th %ile. Family history: two other affected siblings (also had 22q11.21 duplication); mother was of normal intelligence with short stature and obesity.
Moderate intellectual disability
20602619
20721249
118631
GRCh38
Duplication
No
woodward_19_ASD/DD/ID_discovery_cases-case6
6 yrs. 6 mos.
M
ASD, DD, and ID
Birth/neonatal history: placental insufficiency and twin-to-twin transfusion noted during pregnancy; born at 32 weeks gestation by caesarean section; birth weight 1,500 grams. Developmental milestones: global developmental delay. Language and communication evaluation: moderate language impairment. Behavioral/psychiatric evaluation: ASD. Brain imaging: normal neonatal ultrasound. Growth parameters: short stature (25th %ile); obesity (weight 97th %ile). Family history: two other affected siblings (also had 22q11.21 duplication); mother was of normal intelligence with short stature and obesity.
Mild intellectual disability
20602619
20721249
118631
GRCh38
Duplication
No
woodward_19_ASD/DD/ID_discovery_cases-case8
16 yrs.
M
ASD and speech delay
Birth/neonatal history: pregnancy marked by well-controlled gestational diabetes; born at term by non-elective caesarean section for failure to progress; birth weight of 3,175 grams, length of 51 cm, and head circumference of 34 cm. Developmental milestones: speech delay. Motor and musculoskeletal evaluation: long and narrow hands and fingers; relatively long toes. Behavioral/psychiatric evaluation: high-functioning ASD (DSM-IV criteria). Dysmorphic features: long and luxuriant eyelashes, slightly upslanting palpebral fissures. Growth parameters: height 90th %ile, weight 50th-75th %ile, head circumference 75th %ile. Family history: second of two children born to non-consanguineous parents of Filipino descent; asymptomatic mother (also had 22q11.21 duplication).
20655309
21108064
452756
GRCh38
Duplication
No
xu_16_ASD/DD/ID_discovery_cases-case15
N/A
N/A
ASD
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
18339130
21257048
2917919
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case16
N/A
N/A
ASD
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
18339130
21479947
3140818
GRCh38
Duplication
No
yap_21_ASD_discovery_cases-case1101491
NA
F
ASD, developmental delay, and epilepsy/seizures
Already diagnosed with 22q11 deletion. Global developmental delay (MSEL non-verbal score 42); seizures; sleep disturbances (CSHQ total score 46)
18339129
21107318
2768190
GRCh38
Deletion
No
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case1
NA (>13 yrs.)
M
Schizophrenia
NA
NA
18339130
21172311
2833182
GRCh38
Deletion
No
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case8
NA (>13 yrs.)
M
Major Depressive Disorder (MDD)
NA
NA
18339130
21099441
2760312
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case614
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
18157533
18190106
32574
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case615
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
19019471
19581466
561996
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case616
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
18483514
20345217
1861704
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case617
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
18339130
21088382
2749253
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case618
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
18339130
21088382
2749253
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case619
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
21111546
21257048
145503
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case620
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
21562852
21953147
390296
GRCh38
Deletion
No
yuan_23_ASD_discovery_cases-qma01833d000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
19038614
21055426
2016813
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0297-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: wide spaced eyes, flat space b/w nose, 1 ear 2 inches above the other, right eye was closed - had 3 eye operations; plagiocephaly - wore helmet to correct;fluid in ears and had tubes put in
18339130
21320711
2981582
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case2-1370-003
N/A
N/A
ASD
Case cohort: The Autism Simplex Collection . Clinical description: allergies
18339130
21458711
3119582
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case7-0066-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
18339130
21284711
2945582
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-1016-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
18339130
21108369
2769240
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case10-1076-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
18162587
21111385
2948799
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case180909
N/A
M
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
18162587
21111382
2948796
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1370-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
18162024
21561220
3399197
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1753-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
18339130
21111385
2772256
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case210959
N/A
F
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
18166100
21111385
2945286
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case218111
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): anxious traits
20362587
21111385
748799
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0437-000
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
18166423
21561232
3394810
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0624-000
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
18339130
21111385
2772256
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0066-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
18162024
21111385
2949362
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0260-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
18339130
21111385
2772256
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case78142
N/A
F
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
18339130
21111385
2772256
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case78729
N/A
M
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
18162024
21444618
3282595
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case80100
N/A
F
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
18929327
20325150
1395824
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case80446
N/A
M
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
18339130
21111382
2772253
GRCh38
Deletion
Yes
zhang_23_ASD/DD/ID_discovery_cases-caseASD0018
3 yrs.
M
ASD, developmental delay, and intellectual disability
Case clinically diagnosed with ASD according to DSM-V criteria. Additional clinical features: language delay.
Intellectual disability
18923176
21108882
2185707
GRCh38
Duplication
Yes
zhou_19_ASD_discovery_cases-caseAU033603
3 yrs.
F
ASD and DD
Diagnosis of ASD by ADI-R and ADOS. Developmental milestones: developmental delay (walking independently by 36 months). Language and communication evaluation: absent speech (no language). Visual evaluation: strabismus, amblyopia. Hearing evaluation: loss of hearing in left ear. Dysmorphic features: malformed ears, dental anomalies. Additional medical history: severe milk allergy, severe feeding difficulties.
Cognitive deficit
19754703
19970025
215323
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chen_17_ASD_discovery_controls1-control10
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
18794021
19019471
225451
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control11
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
18794021
19019471
225451
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control12
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
18794021
19019471
225451
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control13
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
18794021
19019471
225451
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control14
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
18794021
19019471
225451
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control15
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
18794021
19019471
225451
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control16
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
18794021
19019471
225451
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control17
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
18794021
19019471
225451
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control9
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
18794021
19019471
225451
GRCh38
Duplication
engchuan_15_ASD_discovery_controls-control110036020568_
N/A
N/A
Control
No previous psychiatric history
21007581
21158044
150464
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB231021_1007853960
N/A
N/A
Control
No previous psychiatric history
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB233337_1007875219
N/A
N/A
Control
No previous psychiatric history
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB246256_1007853712
N/A
N/A
Control
No previous psychiatric history
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB356202_1007844561
N/A
N/A
Control
No previous psychiatric history
20038428
20084214
45787
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB365205_1007853975
N/A
N/A
Control
No previous psychiatric history
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB385260_1007874854
N/A
N/A
Control
No previous psychiatric history
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB414618_1007854093
N/A
N/A
Control
No previous psychiatric history
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB462693_1007873290
N/A
N/A
Control
No previous psychiatric history
18692668
19051539
358871
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB482489_1007872861
N/A
N/A
Control
No previous psychiatric history
21049824
21111491
61668
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB494938_1007853807
N/A
N/A
Control
No previous psychiatric history
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB584983_1007848513
N/A
N/A
Control
No previous psychiatric history
18688800
19048116
359316
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB589516_1007872578
N/A
N/A
Control
No previous psychiatric history
18692668
19051539
358871
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB635249_1007846490
N/A
N/A
Control
No previous psychiatric history
19053262
19208602
155341
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB693210_1007854347
N/A
N/A
Control
No previous psychiatric history
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB703091_1007854088
N/A
N/A
Control
No previous psychiatric history
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB837205_1007852918
N/A
N/A
Control
No previous psychiatric history
17051550
17388108
336558
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB843802_1007872268
N/A
N/A
Control
No previous psychiatric history
18688800
19051539
362739
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlB928258_1007854097
N/A
N/A
Control
No previous psychiatric history
18890274
20325776
1435503
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB928258_1007854097
N/A
N/A
Control
No previous psychiatric history
20379205
21111491
732287
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900251_900251
N/A
N/A
Control
No previous psychiatric history
17022145
17398986
376841
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900297_900297
N/A
N/A
Control
No previous psychiatric history
18693299
19013371
320072
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901072_901072
N/A
N/A
Control
No previous psychiatric history
18693299
19028139
334840
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902455_902455
N/A
N/A
Control
No previous psychiatric history
20367174
20584488
217315
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902710_902710
N/A
N/A
Control
No previous psychiatric history
17051550
17388108
336558
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902875_902875
N/A
N/A
Control
No previous psychiatric history
18710895
19015117
304222
NCBI36
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_296
NA
NA
Control
NA
NA
18536300
18748556
212256
NCBI36
Duplication
No
girirajan_12_ASD/DD/ID_discovery_controls-control109
NA
NA
Control
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control110
NA
NA
Control
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control111
NA
NA
Control
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control112
NA
NA
Control
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control113
NA
NA
Control
NA
NA
19032487
20302477
1269991
GRCh38
Duplication
NA
girirajan_13b_ASD_discovery_controls-11509111055
N/A
N/A
Control
Ethnicity: Caucasian
N/A
20135277
20336873
201597
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-13703100328
N/A
N/A
Control
Ethnicity: Hispanic
N/A
20168777
20313060
144284
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-15607108080
N/A
N/A
Control
Ethnicity: Hispanic
N/A
18907030
19019954
112925
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-17203100441
N/A
N/A
Control
Ethnicity: Caucasian
N/A
18890825
18992809
101985
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-2105102564
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
18890825
19025204
134380
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-31407108557
N/A
N/A
Control
Ethnicity: Hispanic
N/A
18925172
19019954
94783
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-4506105599
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
20168777
20255887
87111
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-54206107480
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
20106649
20255887
149239
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-54305104360
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
20146338
20242417
96080
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-57305104494
N/A
N/A
Control
Ethnicity: Caucasian
N/A
18890825
19025204
134380
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-57705104509
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
20168777
20255887
87111
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-70305105431
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
20168777
20255887
87111
GRCh38
Duplication
No
itsara_10_ASD_discovery_controls_2-10421
NA
NA
Asthma
NA
NA
18339130
21108064
2768935
GRCh38
Deletion
Yes
itsara_10_ASD_discovery_controls_2-2648
NA
NA
Asthma
NA
NA
18339130
21097948
2758819
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_controls-control0052
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
18178958
21207225
3028268
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0053
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
18178958
21207225
3028268
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0054
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
18178958
21207225
3028268
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0055
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
18178958
21207225
3028268
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0056
NA
NA
Control
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
NA
18178958
21207225
3028268
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1482
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
18889490
18989020
99531
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split650
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
18889490
19008108
118619
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split762
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
20736315
21462353
726039
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control12481.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12481. SRS score of 34.
21015174
21030351
15178
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control12434.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19056985
19210509
153525
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12481.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
21015174
21029444
14271
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12598.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
20043354
20064662
21309
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13653.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
20721297
21029444
308148
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14119.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
20043354
20063442
20089
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14468.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
18160171
21119249
2959079
GRCh38
Deletion
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0902
20 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
18917254
21277123
2359870
GRCh38
Duplication
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0902
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
18917253
21277123
2359871
GRCh38
Duplication
Yes
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON3163
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
18904452
21277123
2372672
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_controls-AU1957301
N/A
F
Control
Unaffected sibling
20439713
21106711
666999
GRCh38
Duplication
No
leppa_16_ASD_discovery_controls-AU1957305
N/A
M
Control
Unaffected sibling
20439713
21106711
666999
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11969.s1
NA
M
Control
NA
NA
20043290
20074114
30825
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-12434.s1
NA
F
Control
NA
NA
19053635
19210781
157147
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C29633A
N/A
M
Control
NIMH Control (NIMH ID 28428)
18916888
20139894
1223007
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C29633A
N/A
M
Control
NIMH Control (NIMH ID 28428)
20718691
21031814
313124
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C29633A
N/A
M
Control
NIMH Control (NIMH ID 28428)
20394627
20710860
316234
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C34751A
N/A
F
Control
NIMH Control (NIMH ID 34330)
20710697
20753182
42486
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11052.s1
7.9
M
Control (matched sibling)
NA
NA
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11075.s1
9.9
M
Control (matched sibling)
NA
NA
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11227.s1
14.5
M
Control (matched sibling)
NA
NA
21454713
21457702
2990
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11262.s1
4.8
M
Control (matched sibling)
NA
NA
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
18710895
18992377
281482
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
21460639
21501998
41360
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11316.s1
13.3
F
Control (matched sibling)
NA
NA
18871412
19011455
140043
NCBI36
Deletion
No
sanders_11_ASD_discovery_controls-11323.s1
6.3
F
Control (matched sibling)
NA
NA
18871412
19028139
156727
NCBI36
Deletion
No
sanders_11_ASD_discovery_controls-11346.s1
12.9
M
Control (matched sibling)
NA
NA
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11357.s1
4.7
F
Control (matched sibling)
NA
NA
21454713
21456043
1331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11470.s1
12.2
M
Control (matched sibling)
NA
NA
20595570
20596277
708
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11522.s1
15.6
M
Control (matched sibling)
NA
NA
21091107
21097948
6842
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11541.s1
12.2
F
Control (matched sibling)
NA
NA
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
18692668
18992377
299709
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
21460639
21501998
41360
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
21334563
21380169
45607
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
20212990
20299763
86774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12048.s1
10.3
F
Control (matched sibling)
NA
NA
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12068.s1
14.1
M
Control (matched sibling)
NA
NA
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12152.s1
6.8
M
Control (matched sibling)
NA
NA
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12240.s1
6.7
F
Control (matched sibling)
NA
NA
21320936
21393389
72454
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12370.s1
6.3
F
Control (matched sibling)
NA
NA
20595570
20596277
708
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12434.s1
8.8
F
Control (matched sibling)
NA
NA
19053262
19210716
157455
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12481.s1
9
M
Control (matched sibling)
NA
NA
21016938
21111491
94554
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12574.s1
11.3
F
Control (matched sibling)
NA
NA
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12598.s1
12
F
Control (matched sibling)
NA
NA
20042355
20072240
29886
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12619.s1
4.7
M
Control (matched sibling)
NA
NA
21091107
21097948
6842
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
18509866
18641740
131875
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
18339130
18659564
320435
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
21332472
21393389
60918
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12930.s1
14.8
M
Control (matched sibling)
NA
NA
18871412
19000412
129000
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-12984.s1
12
M
Control (matched sibling)
NA
NA
21339407
21380169
40763
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family61_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant psychiatric diagnostic subgroup
20354351
20410704
56354
GRCh38
Duplication
No
wang_10_ASD_discovery_controls-Aut94
6
M
Control
NA
NA
20418308
20981270
562963
GRCh38
Duplication
No
wang_10_ASD_discovery_controls-Aut94
6
M
Control
NA
NA
19323289
20245906
922618
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
ahn_13_SCZ_discovery_cases-NSB_ID1220
array SNP, aCGH, and/or qPCR
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
ahn_13_SCZ_discovery_cases-NSB_ID1275
array SNP, aCGH, and/or qPCR
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
ahn_13_SCZ_discovery_cases-NSB_ID1804
array SNP, aCGH, and/or qPCR
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
ahn_13_SCZ_discovery_cases-NSB_ID3169
array SNP, aCGH, and/or qPCR
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
ahn_13_SCZ_discovery_cases-NSB_ID537
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case08DG00155
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case10DG0083
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0586
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
alhazmi_22_ASD_discovery_cases-case1
Unknown
E2F6P2,LRRC74B,BCRP2,P2RX6P,FAM230B,TUBA3GP,POM121L7P,MIR649,FAM247A,SLC7A4
alhazmi_22_ASD_discovery_cases-case3
PCR
Unknown
GNB1L,GP1BB,SEPTIN5,TBX1
alhazmi_22_ASD_discovery_cases-case4
PCR
Unknown
TBX1
alhazmi_22_ASD_discovery_cases-case5
PCR
Unknown
TBX1
alhazmi_22_ASD_discovery_cases-case6
PCR
Unknown
TBX1
bacchelli_20_ASD_discovery_cases-caseAB143
Maternal
Simplex
DGCR5
bartnik_12_EP_discovery_cases-case4
FISH
Maternal
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
battaglia_13_DD/ID/ASD_discovery_cases-case41
FISH or qPCR
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
battaglia_13_DD/ID/ASD_discovery_cases-case76
FISH or qPCR
Maternal
Maternal
Possible multi-generational
Segregated
DGCR10,CA15P1,DGCR6,PRODH,DGCR5,DGCR2,DGCR9
breckpot_16_ID/catatonia_discovery_cases-case5
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
bremer_11_ASD_discovery_cases-case9
MLPA, FISH
Paternal
NA
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
calderoni_20_ASD_discovery_cases-caseP28
qPCR
Paternal
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,KLHL22,MED15,PI4KA,AIFM3
ceylan_18_DD/ID_discovery_cases-case20
MLPA
De novo
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
ceylan_18_DD/ID_discovery_cases-case21
MLPA
Paternal
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
ceylan_18_DD/ID_discovery_cases-case22
MLPA
De novo
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
ceylan_18_DD/ID_discovery_cases-case23
MLPA
Both parents
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
chan_22_ASD_discovery_cases-case3-0437-000
Paternal
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,CCDC188,LRRC74B,MIR185,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,MIR649,KRT18P5,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,SEPTIN5,RANBP1,LINC01637,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
chan_22_ASD_discovery_cases-case3-0624-000
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,MIR649,KRT18P5,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
chaves_19_ASD/DD/ID_discovery_cases-case26
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,USP18,FAM230D,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,FAM230A,FAM230E,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2
chaves_19_ASD/DD/ID_discovery_cases-case312
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230H,HIC2,FAM230A,FAM230E,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
chaves_19_ASD/DD/ID_discovery_cases-case377
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP18,FAM230D,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
chaves_19_ASD/DD/ID_discovery_cases-case409
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,FAM230A,FAM230E,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,FAM230F,TXNRD2
chaves_19_ASD/DD/ID_discovery_cases-case95
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,USP18,FAM230D,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,FAM230A,FAM230E,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,FAM230F,TXNRD2
chaves_24_ASD/DD/ID_discovery_cases-case1033
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,MIR649,KRT18P5,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
chaves_24_ASD/DD/ID_discovery_cases-case1042
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,RIMBP3B,FAM230E,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,GGTLC3,MIR649,PI4KAP1,KRT18P5,GGT2,FAM230A,BCRP6,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P5,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230D,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,LINC01651,RN7SKP63,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246A,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,USP18,DGCR11,DGCR5,HIC2,TSSK1A,TSSK2
chaves_24_ASD/DD/ID_discovery_cases-case1113
Unknown
CRKL,POM121L8P,MED15,TMEM191A,THAP7,KLHL22,SCARF2,SLC9A3P2,TUBA3FP,AIFM3,SERPIND1,POM121L4P,USP41,E2F6P2,LRRC74B,BCRP2,P2RX6P,THAP7-AS1,RIMBP3B,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,BCRP6,ABHD17AP4,PPP1R26P5,IGLL4P,E2F6P3,FAM230H,RNY1P9,CCDC74BP1,PI4KA,LINC01637,FAM247A,LINC01651,RN7SKP63,SLC7A4,RNU6-225P,RN7SL812P,ZNF74,LZTR1,FAM246A,P2RX6,SNAP29,HIC2
chaves_24_ASD/DD/ID_discovery_cases-case632
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,RIMBP3B,FAM230E,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,GGTLC3,MIR649,PI4KAP1,KRT18P5,GGT2,FAM230A,BCRP6,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P5,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230D,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,LINC01651,RN7SKP63,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246A,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,USP18,DGCR11,DGCR5,HIC2,TSSK1A,TSSK2
chehbani_22_ASD_discovery_cases-case29
Unknown
Simplex
CA15P1,PRODH,DGCR6,FAM246C,DGCR2,DGCR5
chehbani_22_ASD_discovery_cases-case57
Unknown
Simplex
CA15P1,PRODH,DGCR6,FAM246C,DGCR2,DGCR5
chehbani_22_ASD_discovery_cases-case75
Unknown
Simplex
CA15P1,PRODH,DGCR6,FAM246C,DGCR2,DGCR5
chehbani_22_ASD_discovery_cases-case88
Unknown
Simplex
CA15P1,PRODH,DGCR6,FAM246C,DGCR2,DGCR5
chen_14_ASD/ID_discovery_cases-case1
Unknown
Unknown (possible simplex)
Unknown
USP18,DGCR6,PRODH,DGCR2
chen_16_ASD_discovery_cases-probandU-801
qPCR
De novo
Simplex
Segregated
Estimated gene content: DGCR6,PRODH,DGCR2,DGCR14,TSSK2,GSC2,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1L,CDC45,CLDN5,SEPT5,GP1BB,TBX1,GNB1L,C22orf29,TXNRD2,COMT,ARVCF,TANGO2,DGCR8,TRMT2A,RANBP1,ZDHHC8,CCDC188,RTN4R,DGCR6L,TMEM191B,RIMBP3,ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7,P2RX6,SLC7A4,LRRC74B
chen_16_ASD_discovery_cases-probandU-830
qPCR
De novo
Multiplex
Not segregated
Estimated gene content: DGCR2,DGCR14,TSSK2,GSC2,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1L,CDC45,CLDN5,SEPT5,GP1BB,TBX1,GNB1L,C22orf29,TXNRD2,COMT,ARVCF,TANGO2,DGCR8,TRMT2A,RANBP1,ZDHHC8,CCDC188,RTN4R,DGCR6L,TMEM191B,RIMBP3,ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7,P2RX6,SLC7A4,LRRC74B
chen_17_ASD_discovery_cases-caseU-1994
RT-qPCR
Unknown
E2F6P1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
chen_17_ASD_discovery_cases-caseU-801
RT-qPCR
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
chen_17_ASD_discovery_cases-caseU-830
RT-qPCR
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1104
Nimblegen aCGH
De novo
Simplex (negative family history)
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1678
Nimblegen aCGH
De novo
Simplex (negative family history)
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH3712
Nimblegen aCGH
De novo
Simplex (negative family history)
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH4349
Nimblegen aCGH
De novo
Multiplex (spontaneous twin with similar phenotype)
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
christian_08_ASD_discovery_cases-AU001804
FISH, microsatellite
inherited
Multiplex
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
christian_08_ASD_discovery_cases-AU004903
FISH, microsatellite
de novo
Multiplex
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
chung_11_ASD_discovery_cases-proband
Maternal
Simplex
NA
E2F6P1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
costa_21_ASD_discovery_cases-caseP109
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,CCDC188,LRRC74B,MIR185,CA15P2,P2RX6P,THAP7-AS1,FAM230E,SMPD4P1,TUBA3GP,BCRP5,GGTLC3,MIR649,PI4KAP1,KRT18P5,FAM230A,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
cucinotta_23_ASD_discovery_cases-case10
De novo
GP1BB,SEPTIN5,TBX1
cucinotta_23_ASD_discovery_cases-case230
Paternal
CA15P1,PRODH,DGCR6,FAM246C,DGCR2,DGCR5
cucinotta_23_ASD_discovery_cases-case351
Maternal
PRODH,DGCR6,DGCR5
cucinotta_23_ASD_discovery_cases-case397
Paternal
PRODH,DGCR6,DGCR5
cucinotta_23_ASD_discovery_cases-case465
Unknown
PRODH,DGCR6,DGCR5
dale_17_ASD_discovery_cases-case1
FISH
Maternal
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
dale_17_ASD_discovery_cases-case1
FISH
Paternal
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
davis_09_ASD_discovery_cases-AU1334302
Unknown
Multiplex
Unknown
RIMBP3, ZNF74, SCARF2, KLH22, MED15, PI4KA, SERPIND1, SNAP29, CRKL, THAP7, AIMF3, LZTR1, P2RX6, SLC7A4
digregorio_17_DD/ID_discovery_cases-DECIPHER_262738
qPCR
De novo
IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,PI4KA,AIFM3
digregorio_17_DD/ID_discovery_cases-DECIPHER_299976
qPCR
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
digregorio_17_DD/ID_discovery_cases-DECIPHER_299978
qPCR
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
digregorio_17_DD/ID_discovery_cases-DECIPHER_300530
qPCR
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
digregorio_17_DD/ID_discovery_cases-DECIPHER_300603
qPCR
Unknown
TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,PI4KAP2,MAPK1,IGLV10-54,PRAMENP
digregorio_17_DD/ID_discovery_cases-DECIPHER_300629
qPCR
De novo
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
digregorio_17_DD/ID_discovery_cases-DECIPHER_300741
qPCR
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,KLHL22,MED15,PI4KA,AIFM3
digregorio_17_DD/ID_discovery_cases-DECIPHER_301143
qPCR
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
du_21_ASD/DD/ID_discovery_cases-case277
Maternal
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,FAM230E,SMPD4P1,TUBA3GP,BCRP5,GGTLC3,MIR649,PI4KAP1,KRT18P5,FAM230A,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
du_21_ASD/DD/ID_discovery_cases-case291
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,FAM230E,SMPD4P1,TUBA3GP,BCRP5,GGTLC3,MIR649,PI4KAP1,KRT18P5,FAM230A,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230D,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,USP18,DGCR11,DGCR5,TSSK1A,TSSK2
du_21_ASD/DD/ID_discovery_cases-case382
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,FAM230E,SMPD4P1,TUBA3GP,BCRP5,GGTLC3,MIR649,PI4KAP1,KRT18P5,FAM230A,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
egger_14_ASD_discovery_cases-caseA38
qPCR
Paternal
Unknown
CLTCL1
engchuan_15_ASD_discovery_cases-case1195_4
Unknown
DGCR6L;PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_cases-case14230_3640
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
engchuan_15_ASD_discovery_cases-case16074_1571042001
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
engchuan_15_ASD_discovery_cases-case17015_1
De novo
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
engchuan_15_ASD_discovery_cases-case17015_1
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
engchuan_15_ASD_discovery_cases-case1763_311
Unknown
DGCR6L;PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_cases-case3067_5
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
engchuan_15_ASD_discovery_cases-case3126_3
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_cases-case3127_4
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
engchuan_15_ASD_discovery_cases-case3183_7
De novo
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
engchuan_15_ASD_discovery_cases-case3205_3
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_cases-case4271_1
De novo
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
engchuan_15_ASD_discovery_cases-case5039_4
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_cases-case5222_3
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_cases-case5261_4
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
engchuan_15_ASD_discovery_cases-case5268_3
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_cases-case5291_4
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_cases-case5378_3
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,USP41,ZNF74,SCARF2,SMPD4P1,KLHL22,MED15
engchuan_15_ASD_discovery_cases-case5397_3
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_cases-case5510_3
Unknown
DGCR5;DGCR6;DGCR9;GGT3P;PRODH
engchuan_15_ASD_discovery_cases-case5559_4
Unknown
LINC00896
engchuan_15_ASD_discovery_cases-case6021_3
Unknown
DGCR5;DGCR6;DGCR9;GGT3P;PRODH
engchuan_15_ASD_discovery_cases-case6125_4
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
engchuan_15_ASD_discovery_cases-case6242_4
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_cases-case6323_3
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_cases-case6340_3
Unknown
UBE2L3
engchuan_15_ASD_discovery_cases-case8627_201
De novo
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
engchuan_15_ASD_discovery_cases-case8703_201
Unknown
COMT,TXNRD2
fan_19_ASD_discovery_cases-caseASD017
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230H,HIC2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
fan_19_ASD_discovery_cases-caseASD419
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,GP1BB,RTL10,USP18,FAM230D,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,FAM230F,TXNRD2
feliciano_19_ASD_discovery_cases-caseSP0014921
Paternal
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,KLHL22,MED15,PI4KA,AIFM3
null
feliciano_19_ASD_discovery_cases-caseSP0024732
Maternal
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,FAM230F,TXNRD2
null
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259106
Paternal
De novo
Multi-generational
Not segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260134
De novo
Simplex
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,TXNRD2,AIFM3
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260575
De novo
Simplex
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262138
De novo
Simplex
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
gannon_11_ASD/DD_discovery_cases-patientV
Unknown
Unknown
NA
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient7
De novo
Simplex
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_11_ASD_discovery_cases-Si123
De novo
Simplex
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_11_ASD_discovery_cases-Si149
Unknown
Simplex
RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si19
Unknown
Simplex
LINC00896,MIR1286,RTN4R
girirajan_11_ASD_discovery_cases-Si193
Unknown
Simplex
DGCR6,PRODH,DGCR5,DGCR9
girirajan_11_ASD_discovery_cases-Si20
Unknown
Simplex
RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si206
Unknown
Simplex
RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si207
De novo
Simplex
RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si208
Unknown
Simplex
RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si209
Unknown
Simplex
RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si22
Unknown
Simplex
LINC00896,MIR1286,RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si229
Unknown
Simplex
DGCR6,PRODH,DGCR5,DGCR9
girirajan_11_ASD_discovery_cases-Si246
Unknown
Simplex
RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si250
Unknown
Simplex
RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si255
Unknown
Simplex
DGCR10,CA15P1,DGCR6,PRODH,DGCR5,DGCR2,DGCR9
girirajan_11_ASD_discovery_cases-Si309
Unknown
Simplex
RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si318
Unknown
Simplex
RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si35
Unknown
Simplex
LINC00896,MIR1286,RTN4R
girirajan_11_ASD_discovery_cases-Si45
Unknown
Simplex
RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si57
Unknown
Simplex
RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si8
Unknown
Simplex
RTN4R,DGCR6L
girirajan_11_ASD_discovery_cases-Si86
Unknown
Simplex
DGCR6,PRODH,DGCR5,DGCR9
girirajan_12_ASD/DD/ID_discovery_cases-case1593
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1594
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1595
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1596
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1597
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1598
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1599
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1600
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1601
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1602
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1603
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1604
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1605
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1606
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1607
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1608
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1609
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1610
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1611
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1612
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1613
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1614
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1615
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1616
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1617
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1618
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1619
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1620
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1621
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1622
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1623
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1624
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1625
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1626
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1627
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1628
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1629
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1630
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1631
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1632
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1633
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1634
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1635
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1636
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1637
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1638
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1639
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1640
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1641
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1642
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1643
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1644
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1645
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1646
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1647
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1648
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1649
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1650
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1651
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1652
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1653
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1654
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1655
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1656
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1657
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1658
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1659
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1660
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1661
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1662
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1663
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1664
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1665
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1666
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1667
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1668
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1669
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1670
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1671
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1672
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1673
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1674
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1675
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1676
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1677
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1678
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1679
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1680
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1681
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1682
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1683
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1684
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1685
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1686
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1687
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1688
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1689
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1690
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1691
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1692
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1693
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1694
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1695
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1696
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1697
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1698
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1699
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1700
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1701
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1702
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1703
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1704
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1705
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1706
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1707
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1708
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1709
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1710
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1711
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1712
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1713
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1714
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1715
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1716
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1717
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1718
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1719
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1720
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1721
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1722
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1723
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1724
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1725
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1726
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1727
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1728
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1729
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1730
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1731
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1732
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1733
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1734
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1735
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1736
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1737
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1738
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1739
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1740
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1741
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1742
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1743
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1744
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1745
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1746
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1747
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1748
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1749
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1750
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1751
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1752
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1753
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1754
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1755
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1756
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1757
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1758
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1759
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1760
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1761
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1762
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1763
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1764
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1765
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1766
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1767
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1768
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1769
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1770
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1771
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1772
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1773
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1774
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1775
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1776
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1777
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1778
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1779
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1780
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1781
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1782
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1783
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1784
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1785
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1786
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1787
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1788
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1789
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1790
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1791
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1792
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1793
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1794
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1795
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1796
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1797
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1798
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1799
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1800
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1801
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1802
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1803
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1804
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1805
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1806
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1807
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1808
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1809
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1810
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1811
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1812
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1813
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1814
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1815
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1816
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1817
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1818
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1819
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1820
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1821
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1822
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1823
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1824
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1825
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1826
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1827
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1828
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1829
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1830
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1831
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1832
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1833
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1834
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1835
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case1836
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case21683
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case24222
FISH, aCGH, or confirmation by inheritance
De novo
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case25163
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case25870
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case31576
FISH, aCGH, or confirmation by inheritance
De novo
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case31898
FISH, aCGH, or confirmation by inheritance
Both parents
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case33289
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case33529
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case35334
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case37709
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case38025
FISH, aCGH, or confirmation by inheritance
De novo
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case38700
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case40822
FISH, aCGH, or confirmation by inheritance
Paternal
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case51723
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case52716
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case60452
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case60918
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_cases-case66683
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_13a_ASD_discovery_cases-11599.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
HIRA,C22orf39
girirajan_13a_ASD_discovery_cases-12239.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_ASD_discovery_cases-12686.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
DGCR11,DGCR2
girirajan_13a_ASD_discovery_cases-12878.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
SERPIND1,PI4KA
girirajan_13a_ASD_discovery_cases-13859.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase385
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase386
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase387
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase388
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase389
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase390
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase391
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase392
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase393
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase394
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase395
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase396
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase397
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase398
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase399
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase400
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase401
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase402
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase403
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase404
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase405
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase406
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase407
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase408
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase409
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase410
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase411
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase412
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase413
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase414
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase415
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase416
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase417
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase418
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase419
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase420
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase421
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase422
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase423
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase424
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase425
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase426
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase427
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase428
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase429
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase430
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase431
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase432
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase433
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase434
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase435
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase436
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase437
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase438
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase439
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase440
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase441
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase442
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase443
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase444
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase445
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase446
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase447
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase448
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase449
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase450
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase451
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase452
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase453
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase454
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase455
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase456
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase457
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase458
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase459
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase460
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase461
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase462
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase463
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase464
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase465
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase466
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase467
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase468
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase469
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase470
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase471
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase472
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase473
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase474
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase475
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase476
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase477
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase478
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase479
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13a_DD_discovery_cases-DDcase480
Unknown
ARL2BPP10,GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,PEX26,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
girirajan_13b_ASD_discovery_cases-16709111253
Unknown
Unknown
Unknown
TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR8,RANBP1,ZDHHC8,RTN4R
girirajan_13b_ASD_discovery_cases-20005103253
Unknown
Unknown
Unknown
DGCR6,PRODH,DGCR5,DGCR9
girirajan_13b_ASD_discovery_cases-20207108119
Unknown
Unknown
Unknown
DGCR10,DGCR6,PRODH,DGCR5,DGCR9
girirajan_13b_ASD_discovery_cases-21907108174
Unknown
Unknown
Unknown
DGCR10,DGCR6,PRODH,DGCR5,DGCR9
girirajan_13b_ASD_discovery_cases-25209111475
Unknown
Unknown
Unknown
TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR8,RANBP1,ZDHHC8,RTN4R
girirajan_13b_ASD_discovery_cases-25807108397
Unknown
Unknown
Unknown
RTN4R,DGCR6L
girirajan_13b_ASD_discovery_cases-29909111597
Unknown
Unknown
Unknown
LINC00896,MIR1286,RTN4R
girirajan_13b_ASD_discovery_cases-36909111849
Unknown
Unknown
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
girirajan_13b_ASD_discovery_cases-36909111849
Unknown
Unknown
Unknown
SERPIND1,PI4KA
girirajan_13b_ASD_discovery_cases-61204102229
Unknown
Unknown
Unknown
DGCR10,DGCR6,PRODH,DGCR5,DGCR9
girirajan_13b_ASD_discovery_cases-709110652
Unknown
Unknown
Unknown
LINC00896,MIR1286,RTN4R
glessner_09_ASD_discovery_cases-1159_008
MLPA
Unknown
Unknown
NA
ABHD17AP4
glessner_09_ASD_discovery_cases-9568374790
MLPA
Unknown
Unknown
NA
ABHD17AP4
glessner_09_ASD_discovery_cases-AU14203
MLPA
Unknown
Unknown
NA
ABHD17AP4
glessner_09_ASD_discovery_cases-C217403
MLPA
Unknown
Unknown
NA
ABHD17AP4
glessner_09_ASD_discovery_cases-NIMH_157-1155-001_06C58406A
MLPA
Unknown
Unknown
NA
ABHD17AP4
glessner_09_ASD_replication_cases-AU001804
MLPA
Unknown
Unknown
NA
ABHD17AP4
glessner_09_ASD_replication_cases-AU004903
MLPA
Unknown
Unknown
NA
ABHD17AP4
glessner_09_ASD_replication_cases-AU067403
MLPA
Unknown
Unknown
NA
ABHD17AP4
glessner_09_ASD_replication_cases-AU1334302
MLPA
Unknown
Unknown
NA
ABHD17AP4
griswold_12_ASD_discovery_cases-case17164
qPCR
De novo
Simplex
Segregated
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,USP41,ZNF74,SCARF2,SMPD4P1,KLHL22,MED15
guilherme_14_DD/EP/ASD_discovery_cases-case3
FISH
De novo
Likely simplex (younger brother with congenital anomalies but normal karyotype)
Possibly segregated
DGCR6,PRODH,DGCR2,DGCR14,TSSK2,GSC2,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1L,CDC45,CLDN5,SEPT5,GP1BB,TBX1,GNB1L,C22orf29,TXNRD2,COMT,ARVCF,TANGO2,DGCR8,TRMT2A,RANBP1,ZDHHC8,LOC388849,RTN4R,DGCR6L
han_22_ASD/DD/ID_discovery_cases-case15D1529
De novo
RIMBP3,GGT3P,GSC2,E2F6P1,CA15P2,FAM230E,GGTLC3,PI4KAP1,FAM230A,TMEM191B,GGTLC5P,FAM230J,SUSD2P2,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,KRT18P62,LINC01311,CA15P1,FAM230D,FAM230F,PRODH,RN7SKP131,SLC25A1,DGCR6,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,USP18,DGCR11,DGCR5,TSSK1A,TSSK2
han_22_ASD/DD/ID_discovery_cases-case15D1529
De novo
COMT,GNB1L,RTL10,TXNRD2
han_22_ASD/DD/ID_discovery_cases-case15D1529
De novo
MED15,TMEM191A,KLHL22,SCARF2,SLC9A3P2,SERPIND1,POM121L4P,SMPD4P1,BCRP5,KRT18P5,ABHD17AP4,IGLL4P,RNY1P9,CCDC74BP1,PI4KA,RN7SL812P,SNAP29
han_22_ASD/DD/ID_discovery_cases-case15D1529
De novo
MRPL40,C22orf39,LINC00895,GP1BB,SEPTIN5,CLDN5,TBX1,UFD1,HIRA,RN7SL168P,CDC45,CLTCL1
han_22_ASD/DD/ID_discovery_cases-case15D1529
De novo
CRKL,POM121L8P,THAP7,TUBA3FP,AIFM3,E2F6P2,LRRC74B,BCRP2,P2RX6P,THAP7-AS1,RIMBP3B,FAM230B,TUBA3GP,POM121L7P,MIR649,GGT2,BCRP6,PPP1R26P5,E2F6P3,FAM230H,LINC01637,FAM247A,LINC01651,RN7SKP63,SLC7A4,LZTR1,FAM246A,P2RX6,HIC2
han_22_ASD/DD/ID_discovery_cases-case15D3173
De novo
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,RIMBP3B,FAM230E,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,GGTLC3,MIR649,PI4KAP1,KRT18P5,GGT2,FAM230A,BCRP6,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P5,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,LINC01651,RN7SKP63,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246A,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,HIC2,TSSK1A,TSSK2
han_22_ASD/DD/ID_discovery_cases-case15D881
De novo
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,FAM230E,SMPD4P1,TUBA3GP,BCRP5,GGTLC3,MIR649,PI4KAP1,KRT18P5,FAM230A,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
han_22_ASD/DD/ID_discovery_cases-case19D0970
De novo
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,RIMBP3B,FAM230E,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,GGTLC3,MIR649,PI4KAP1,KRT18P5,GGT2,FAM230A,BCRP6,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P5,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,LINC01651,RN7SKP63,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246A,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,HIC2,TSSK1A,TSSK2
han_22_ASD/DD/ID_discovery_cases-caseY11
Unknown
ARVCF,COMT,TRMT2A,ZDHHC8,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,DGCR6L,TANGO2,C22orf39,LINC00895,LINC00896,GP1BB,GGT3P,GSC2,LINC02891,E2F6P1,CCDC188,MIR185,BCRP7,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,FAM230F,FAM230G,PRODH,SEPTIN5,RANBP1,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,HIRA,RN7SL168P,SNORA77B,CDC45,DGCR6,ESS2,CLTCL1,FAM246C,DGCR2,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
han_22_ASD/DD/ID_discovery_cases-caseY85
Paternal
CRKL,TMEM191A,THAP7,TUBA3FP,AIFM3,SERPIND1,LRRC74B,BCRP2,P2RX6P,THAP7-AS1,TUBA3GP,MIR649,PI4KA,LINC01637,SLC7A4,LZTR1,P2RX6,SNAP29
hodge_13_DD/ID/ASD_discovery_cases-case6
Unknown
Unknown
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
hu_22_ASD_discovery_cases-case28
Unknown
ARVCF,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,LINC00895,LINC00896,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,CCDC188,MIR185,SMPD4P1,BCRP5,KRT18P5,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,ESS2,CLTCL1,FAM246C,DGCR2,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
hu_23_ASD_discovery_cases-case11
qPCR/MLPA
Unknown
KRT18P62,CLTCL1
itsara_10_ASD_discovery_cases-HI0322
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
jiao_19_EP/DD/ID_discovery_cases-caseDD18002423
De novo
Simplex
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000053
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000199
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000204
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000478
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000606
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000622
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000644
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000705
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000720
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000869
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000890
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7,P2RX6,SLC7A4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000891
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000965
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000988
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000996
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001033
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001045
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001047
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001062
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001099
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001106
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001115
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001118
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001121
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001187
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001211
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001220
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001231
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001245
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001246
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001603
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001754
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,KLHL22,MED15,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001768
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001771
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001796
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
DGCR6,PRODH,DGCR5,DGCR9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001799
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
DGCR10,PRODH,DGCR5,DGCR9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001824
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001833
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001840
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001909
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001915
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01637,CRKL,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001956
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001958
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001964
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001995
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002006
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002021
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002023
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002048
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002054
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002058
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002070
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002079
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002080
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002082
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002102
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002112
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002163
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002181
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002220
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002300
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002375
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002401
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002403
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002410
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002431
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002491
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002504
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002505
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002562
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002587
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002612
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002638
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002640
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
biparental
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002649
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002703
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PEX26,TUBA8,USP18,DGCR6,PRODH
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002738
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002800
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003771
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003838
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003852
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003867
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003914
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003915
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003936
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003982
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004011
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004017
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004031
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004058
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004072
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004091
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004093
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004106
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004139
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004165
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004178
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004180
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004196
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004199
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004233
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004278
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004329
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004375
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004403
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004414
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004452
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004463
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004478
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004482
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004519
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004569
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004577
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004579
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004617
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004672
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004698
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004733
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004745
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,TXNRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004783
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004834
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004837
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004847
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004849
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004868
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004941
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004943
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004958
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004977
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004998
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005006
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005028
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RIMBP3,ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7,P2RX6,SLC7A4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005030
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005034
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005038
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005043
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005054
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005105
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005134
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005140
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005172
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005181
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005246
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005289
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005331
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005346
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,KLHL22,MED15,PI4KA,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005351
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005355
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005407
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005410
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005435
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
YPEL1,MAPK1
kanduri_15_ASD_discovery_cases-case1908
Maternal
Unknown
Unknown
DGCR6,PRODH
kanduri_15_ASD_discovery_cases-case1925
Paternal
Unknown
Unknown
PRODH
kim_18_DD/ID_discovery_cases-case13
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kim_18_DD/ID_discovery_cases-case8
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
krumm_13_ASD_discovery_cases-case12481.p1
Solid phase hybridization (Illumina 1M)
Paternal
Simplex
Not segregated
SLC7A4,MIR649,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2
krumm_13_ASD_discovery_cases-case12680.p1
Paternal
Simplex
Not segregated
MAPK1
krumm_15_ASD_discovery_cases-case11969.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
TANGO2
krumm_15_ASD_discovery_cases-case12434.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,DGCR2,ESS2,CLTCL1
krumm_15_ASD_discovery_cases-case12481.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
SLC7A4,P2RX6
krumm_15_ASD_discovery_cases-case12598.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
TANGO2
krumm_15_ASD_discovery_cases-case12661.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
LINC01637,THAP7,TUBA3FP,SLC7A4,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,PI4KA,AIFM3
krumm_15_ASD_discovery_cases-case12686.p1
1M-Duov3
Paternal
Simplex
Segregated
DGCR2
krumm_15_ASD_discovery_cases-case13859.p1
Omni2.5-4v1
De novo
Simplex
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,TXNRD2
krumm_15_ASD_discovery_cases-case14259.p1
Omni2.5-4v1
De novo
Simplex
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_ASD_discovery_cases-caseASD0759
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,TXNRD2,AIFM3
kushima_18_ASD_discovery_cases-caseASD0843
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
kushima_18_ASD_discovery_cases-caseASD0851
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_ASD_discovery_cases-caseASD0858
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_ASD_discovery_cases-caseASD0973
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ0007
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ0096
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
De novo
Simplex
Segregated
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ0320
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
kushima_18_SCZ_discovery_cases-caseSCZ0459
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
De novo
Simplex
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ0497
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ0686
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ0858
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ0897
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ1130
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ1228
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ1231
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ1299
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ1887
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ1945
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,KLHL22,MED15,PI4KA,AIFM3
kushima_18_SCZ_discovery_cases-caseSCZ2214
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_22_ASD_discovery_cases-caseASD0759
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,E2F6P2,PI4KAP2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,RIMBP3B,FAM230B,TMEM191C,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,BCRP6,ABHD17AP4,PPP1R26P5,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,LINC01651,RN7SKP63,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246A,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,HIC2,TSSK1A,TSSK2
kushima_22_ASD_discovery_cases-caseASD0843
qRT-PCR
Unknown
ARVCF,COMT,TRMT2A,ZDHHC8,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,DGCR6L,TANGO2,C22orf39,LINC00895,LINC00896,GP1BB,GSC2,LINC02891,CCDC188,MIR185,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,PRODH,SEPTIN5,RANBP1,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,HIRA,RN7SL168P,SNORA77B,CDC45,DGCR6,ESS2,CLTCL1,FAM246C,DGCR2,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_ASD_discovery_cases-caseASD0851
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_ASD_discovery_cases-caseASD0858
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_ASD_discovery_cases-caseASD0973
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_ASD_discovery_cases-caseASD1264
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,FAM230E,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,GGTLC3,MIR649,PI4KAP1,KRT18P5,GGT2,FAM230A,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230D,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,USP18,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_BPD_discovery_cases-caseBD0718
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_BPD_discovery_cases-caseBD1173
qRT-PCR
Unknown
CRKL,MED15,TMEM191A,THAP7,KLHL22,SCARF2,SLC9A3P2,TUBA3FP,AIFM3,SERPIND1,POM121L4P,USP41,E2F6P2,LRRC74B,BCRP2,P2RX6P,THAP7-AS1,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,ABHD17AP4,IGLL4P,E2F6P3,RNY1P9,CCDC74BP1,PI4KA,LINC01637,FAM247A,SLC7A4,RNU6-225P,RN7SL812P,ZNF74,LZTR1,P2RX6,SNAP29
kushima_22_BPD_discovery_cases-caseBD1655
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,E2F6P2,PI4KAP2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,RIMBP3B,FAM230B,TMEM191C,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,BCRP6,ABHD17AP4,PPP1R26P5,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,LINC01651,RN7SKP63,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246A,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,HIC2,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ0007
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,RIMBP3B,FAM230E,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,GGTLC3,MIR649,PI4KAP1,KRT18P5,GGT2,FAM230A,BCRP6,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P5,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230D,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,LINC01651,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246A,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,USP18,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ0096
qRT-PCR
De novo
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,MIR649,KRT18P5,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ0320
qRT-PCR
Unknown
ARVCF,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,LINC00895,LINC00896,GP1BB,GSC2,POM121L4P,LINC02891,USP41,CCDC188,MIR185,SMPD4P1,KRT18P5,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PRODH,SEPTIN5,RANBP1,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,ESS2,CLTCL1,FAM246C,DGCR2,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ0459
qRT-PCR
De novo
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,FAM230E,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,GGTLC3,MIR649,PI4KAP1,KRT18P5,GGT2,FAM230A,BCRP6,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P5,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230D,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,LINC01651,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246A,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,USP18,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ0497
qRT-PCR
Unknown
CRKL,MED15,TMEM191A,THAP7,KLHL22,SCARF2,SLC9A3P2,TUBA3FP,AIFM3,SERPIND1,POM121L4P,USP41,LRRC74B,BCRP2,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,MIR649,KRT18P5,ABHD17AP4,IGLL4P,RNY1P9,CCDC74BP1,PI4KA,LINC01637,SLC7A4,RNU6-225P,RN7SL812P,ZNF74,LZTR1,P2RX6,SNAP29
kushima_22_SCZ_discovery_cases-caseSCZ0686
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,ABHD17AP4,BCRP7,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ0858
qRT-PCR
Unknown
CRKL,MED15,TMEM191A,THAP7,KLHL22,SCARF2,SLC9A3P2,TUBA3FP,AIFM3,SERPIND1,POM121L4P,USP41,E2F6P2,LRRC74B,BCRP2,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,ABHD17AP4,IGLL4P,RNY1P9,CCDC74BP1,FAM230G,PI4KA,LINC01637,SLC7A4,RNU6-225P,RN7SL812P,ZNF74,LZTR1,P2RX6,SNAP29
kushima_22_SCZ_discovery_cases-caseSCZ0897
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,FAM230E,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,GGTLC3,MIR649,PI4KAP1,KRT18P5,GGT2,FAM230A,BCRP6,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P5,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230D,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,LINC01651,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246A,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,USP18,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ1130
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,BCRP6,ABHD17AP4,PPP1R26P5,BCRP7,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ1228
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,MIR649,KRT18P5,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ1231
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,RIMBP3B,FAM230E,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,GGTLC3,MIR649,PI4KAP1,KRT18P5,GGT2,FAM230A,BCRP6,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P5,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230D,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,LINC01651,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246A,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,USP18,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ1299
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,MIR649,KRT18P5,ABHD17AP4,BCRP7,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ1887
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,FAM230E,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,GGTLC3,MIR649,PI4KAP1,KRT18P5,GGT2,FAM230A,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230D,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,USP18,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ1945
qRT-PCR
Unknown
CRKL,MED15,TMEM191A,THAP7,KLHL22,SCARF2,SLC9A3P2,TUBA3FP,AIFM3,SERPIND1,POM121L4P,USP41,E2F6P2,LRRC74B,BCRP2,P2RX6P,THAP7-AS1,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,ABHD17AP4,IGLL4P,E2F6P3,RNY1P9,CCDC74BP1,FAM230G,PI4KA,LINC01637,FAM247A,SLC7A4,RNU6-225P,RN7SL812P,ZNF74,LZTR1,P2RX6,SNAP29
kushima_22_SCZ_discovery_cases-caseSCZ2214
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,FAM230E,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,GGTLC3,MIR649,PI4KAP1,KRT18P5,GGT2,FAM230A,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230D,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,USP18,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ2783
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,FAM230E,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,GGTLC3,MIR649,PI4KAP1,KRT18P5,GGT2,FAM230A,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230D,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,USP18,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_SCZ_discovery_cases-caseSCZ3718
qRT-PCR
Unknown
ARVCF,COMT,TRMT2A,ZDHHC8,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,DGCR6L,TANGO2,C22orf39,LINC00895,LINC00896,GP1BB,GSC2,LINC02891,CCDC188,MIR185,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,FAM230G,PRODH,SEPTIN5,RANBP1,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,HIRA,RN7SL168P,SNORA77B,CDC45,DGCR6,ESS2,CLTCL1,FAM246C,DGCR2,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
leblond_19_ASD_discovery_cases-casePN400533
SnipPeep and XHMM plot visualizations
De novo
Simplex
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
lee_17_ASD/DD/ID/MCA_discovery_cases-case25
Unknown
DGCR10,CA15P1,PRODH,DGCR5,DGCR2,DGCR9
leite_22_DD/ID_discovery_cases-case022
Paternal
CRKL,MED15,TMEM191A,THAP7,KLHL22,SCARF2,SLC9A3P2,TUBA3FP,AIFM3,SERPIND1,POM121L4P,USP41,LRRC74B,BCRP2,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,MIR649,KRT18P5,ABHD17AP4,IGLL4P,RNY1P9,CCDC74BP1,PI4KA,LINC01637,SLC7A4,RNU6-225P,RN7SL812P,ZNF74,LZTR1,P2RX6,SNAP29
leite_22_DD/ID_discovery_cases-case036
De novo
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,RIMBP3B,FAM230E,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,GGTLC3,MIR649,PI4KAP1,KRT18P5,GGT2,FAM230A,BCRP6,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P5,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,LINC01651,RN7SKP63,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246A,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,HIC2,TSSK1A,TSSK2
leite_22_DD/ID_discovery_cases-case082
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,CCDC188,LRRC74B,BCRP2,MIR185,CA15P2,P2RX6P,THAP7-AS1,FAM230E,SMPD4P1,TUBA3GP,BCRP5,GGTLC3,MIR649,PI4KAP1,KRT18P5,FAM230A,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
leppa_16_ASD_discovery_cases-AU001804
Paternal
Multiplex
Not segregated (CNV not present in affected sibling AU001803)
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
leppa_16_ASD_discovery_cases-AU1794302
De novo
Multiplex
Not segregated (CNV not present in affected sibling)
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
leppa_16_ASD_discovery_cases-AU1957302
Paternal
Simplex
Not segregated (CNV also present in two unaffected siblings: AU1957301 and AU1957305)
RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
leppa_16_ASD_discovery_cases-AU3052301
De novo
Multiplex
Not segregated (CNV not present in two affected siblings)
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,TXNRD2
levy_11_ASD_discovery_cases-11969.p1
Paternal
Simplex
Not segregated
TANGO2
levy_11_ASD_discovery_cases-12239.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
levy_11_ASD_discovery_cases-12239.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
levy_11_ASD_discovery_cases-12434.p1
Paternal
Simplex
Not segregated
TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,DGCR2,ESS2,CLTCL1
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case16
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
li_18_ASD_discovery_cases-case4701
De novo
Simplex
Possibly segregated
USP18,DGCR6
mahjani_21_ASD_discovery_cases-case177
Unknown
ARVCF,CRKL,COMT,TRMT2A,MED15,ZDHHC8,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,RIMBP3,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00896,AIFM3,LINC00895,GSC2,GGT3P,SERPIND1,GP1BB,POM121L4P,LINC02891,E2F6P1,USP41,CCDC188,BCRP2,LRRC74B,CA15P2,MIR185,THAP7-AS1,P2RX6P,FAM230E,BCRP5,TUBA3GP,SMPD4P1,FAM230A,PI4KAP1,MIR649,TMEM191B,GGTLC5P,GGTLC3,KRT18P5,FAM230J,SUSD2P2,ABHD17AP4,BCRP7,PPP1R26P4,PPP1R26P3,PPP1R26P2,KRT18P62,IGLL4P,MIR1286,MIR1306,MIR3618,MIR4761,LINC01311,FAM230F,RNY1P9,CCDC74BP1,CA15P1,FAM230G,PI4KA,SEPTIN5,RANBP1,PRODH,LINC01637,MIR6816,RN7SKP131,UFD1,HIRA,SLC7A4,TBX1,SLC25A1,CLDN5,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,ESS2,LZTR1,DGCR6,CDC45,ZNF74,CLTCL1,FAM247B,FAM246C,FAM246B,DGCR2,SNAP29,P2RX6,TXNRD2,DGCR11,DGCR5,TSSK2,TSSK1A
mahjani_21_ASD_discovery_cases-case178
Unknown
ARVCF,CRKL,COMT,TRMT2A,MED15,ZDHHC8,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,RIMBP3,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00896,AIFM3,LINC00895,GSC2,GGT3P,SERPIND1,GP1BB,POM121L4P,LINC02891,E2F6P1,USP41,CCDC188,BCRP2,LRRC74B,CA15P2,MIR185,THAP7-AS1,P2RX6P,FAM230E,BCRP5,TUBA3GP,SMPD4P1,FAM230A,PI4KAP1,MIR649,TMEM191B,GGTLC5P,GGTLC3,KRT18P5,FAM230J,SUSD2P2,ABHD17AP4,BCRP7,PPP1R26P4,PPP1R26P3,PPP1R26P2,KRT18P62,IGLL4P,MIR1286,MIR1306,MIR3618,MIR4761,LINC01311,FAM230F,RNY1P9,CCDC74BP1,CA15P1,FAM230G,PI4KA,SEPTIN5,RANBP1,PRODH,LINC01637,MIR6816,RN7SKP131,UFD1,HIRA,SLC7A4,TBX1,SLC25A1,CLDN5,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,ESS2,LZTR1,DGCR6,CDC45,ZNF74,CLTCL1,FAM247B,FAM246C,FAM246B,DGCR2,SNAP29,P2RX6,TXNRD2,DGCR11,DGCR5,TSSK2,TSSK1A
mahjani_21_ASD_discovery_cases-case179
Unknown
ARVCF,CRKL,COMT,TRMT2A,MED15,ZDHHC8,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,RIMBP3,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00896,AIFM3,LINC00895,GSC2,GGT3P,SERPIND1,GP1BB,POM121L4P,LINC02891,E2F6P1,USP41,CCDC188,BCRP2,LRRC74B,CA15P2,MIR185,THAP7-AS1,P2RX6P,FAM230E,BCRP5,TUBA3GP,SMPD4P1,FAM230A,PI4KAP1,MIR649,TMEM191B,GGTLC5P,GGTLC3,KRT18P5,FAM230J,SUSD2P2,ABHD17AP4,BCRP7,PPP1R26P4,PPP1R26P3,PPP1R26P2,KRT18P62,IGLL4P,MIR1286,MIR1306,MIR3618,MIR4761,LINC01311,FAM230F,RNY1P9,CCDC74BP1,CA15P1,FAM230G,PI4KA,SEPTIN5,RANBP1,PRODH,LINC01637,MIR6816,RN7SKP131,UFD1,HIRA,SLC7A4,TBX1,SLC25A1,CLDN5,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,ESS2,LZTR1,DGCR6,CDC45,ZNF74,CLTCL1,FAM247B,FAM246C,FAM246B,DGCR2,SNAP29,P2RX6,TXNRD2,DGCR11,DGCR5,TSSK2,TSSK1A
mahjani_21_ASD_discovery_cases-case180
Unknown
ARVCF,CRKL,COMT,TRMT2A,MED15,ZDHHC8,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,RIMBP3,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00896,AIFM3,LINC00895,GSC2,GGT3P,SERPIND1,GP1BB,POM121L4P,LINC02891,E2F6P1,USP41,CCDC188,BCRP2,LRRC74B,CA15P2,MIR185,THAP7-AS1,P2RX6P,FAM230E,BCRP5,TUBA3GP,SMPD4P1,FAM230A,PI4KAP1,MIR649,TMEM191B,GGTLC5P,GGTLC3,KRT18P5,FAM230J,SUSD2P2,ABHD17AP4,BCRP7,PPP1R26P4,PPP1R26P3,PPP1R26P2,KRT18P62,IGLL4P,MIR1286,MIR1306,MIR3618,MIR4761,LINC01311,FAM230F,RNY1P9,CCDC74BP1,CA15P1,FAM230G,PI4KA,SEPTIN5,RANBP1,PRODH,LINC01637,MIR6816,RN7SKP131,UFD1,HIRA,SLC7A4,TBX1,SLC25A1,CLDN5,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,ESS2,LZTR1,DGCR6,CDC45,ZNF74,CLTCL1,FAM247B,FAM246C,FAM246B,DGCR2,SNAP29,P2RX6,TXNRD2,DGCR11,DGCR5,TSSK2,TSSK1A
mahjani_21_ASD_discovery_cases-case181
Unknown
ARVCF,CRKL,COMT,TRMT2A,MED15,ZDHHC8,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,RIMBP3,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00896,AIFM3,LINC00895,GSC2,GGT3P,SERPIND1,GP1BB,POM121L4P,LINC02891,E2F6P1,USP41,CCDC188,BCRP2,LRRC74B,CA15P2,MIR185,THAP7-AS1,P2RX6P,FAM230E,BCRP5,TUBA3GP,SMPD4P1,FAM230A,PI4KAP1,MIR649,TMEM191B,GGTLC5P,GGTLC3,KRT18P5,FAM230J,SUSD2P2,ABHD17AP4,BCRP7,PPP1R26P4,PPP1R26P3,PPP1R26P2,KRT18P62,IGLL4P,MIR1286,MIR1306,MIR3618,MIR4761,LINC01311,FAM230F,RNY1P9,CCDC74BP1,CA15P1,FAM230G,PI4KA,SEPTIN5,RANBP1,PRODH,LINC01637,MIR6816,RN7SKP131,UFD1,HIRA,SLC7A4,TBX1,SLC25A1,CLDN5,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,ESS2,LZTR1,DGCR6,CDC45,ZNF74,CLTCL1,FAM247B,FAM246C,FAM246B,DGCR2,SNAP29,P2RX6,TXNRD2,DGCR11,DGCR5,TSSK2,TSSK1A
mahjani_22_OCD/CTD_discovery_cases-case2
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,RIMBP3B,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,BCRP6,ABHD17AP4,PPP1R26P5,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,LINC01651,RN7SKP63,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246A,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,HIC2,TSSK1A,TSSK2
mahjani_22_OCD/CTD_discovery_cases-case8
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,MIR649,KRT18P5,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
maini_18_ASD/DD/ID_discovery_cases-case124
Maternal
Not simplex
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,KLHL22,MED15,PI4KA,AIFM3
maini_18_ASD/DD/ID_discovery_cases-case_unknown121
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
maini_18_ASD/DD/ID_discovery_cases-case_unknown122
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
maini_18_ASD/DD/ID_discovery_cases-case_unknown123
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
maini_18_ASD/DD/ID_discovery_cases-case_unknown124
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
maini_18_ASD/DD/ID_discovery_cases-case_unknown125
Paternal
Unknown
Unknown
THAP7,TUBA3FP,SLC7A4,MIR649,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,AIFM3
marshall_08_ASD_discovery_cases-SK0119-003
qPCR, qmPCR
De novo
Multiplex
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
marshall_08_ASD_discovery_cases-SK0323-003
qPCR, qmPCR
Unknown
Multiplex
NA
LOC729444,TMEM191B,PI4KAP1,RIMBP3,ZNF74,SCARF2,KLHL22,MED15,POM121L4P,TMEM191A,PI4KA
miclea_22_DD/ID_discovery_cases-case161
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,RIMBP3B,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,BCRP6,ABHD17AP4,PPP1R26P5,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,LINC01651,RN7SKP63,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246A,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,HIC2,TSSK1A,TSSK2
miclea_22_DD/ID_discovery_cases-case173
Unknown
FAM230F,PRODH,DGCR6,DGCR5
miclea_22_DD/ID_discovery_cases-case178
Unknown
PRODH,DGCR6,DGCR5
miclea_22_DD/ID_discovery_cases-case67
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,MIR649,KRT18P5,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
miyake_23_ASD_discovery_cases-case8385
qPCR
Maternal
ARVCF,COMT,DGCR8,GNB1L,MRPL40,RTL10,TANGO2,C22orf39,LINC00895,GP1BB,GSC2,MIR185,KRT18P62,MIR1306,MIR3618,MIR4761,LINC01311,SEPTIN5,CLDN5,SLC25A1,TBX1,UFD1,HIRA,RN7SL168P,CDC45,ESS2,CLTCL1,DGCR2,TXNRD2,TSSK1A,TSSK2
monteiro_19_ASD_discovery_cases_case19
De novo
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,DGCR6,PRODH,DGCR5,DGCR2,DGCR9,ESS2
monteiro_19_ASD_discovery_cases_case28
De novo
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,PRODH,DGCR5,DGCR2,DGCR9,ESS2
mulle_13_SCZ_discovery_cases_1-caseAJ_8158_1
Solid phase hybridization
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
mulle_13_SCZ_discovery_cases_1-caseAJ_8280_1
Solid phase hybridization
De novo
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,TXNRD2,AIFM3
mulle_13_SCZ_discovery_cases_1-caseAJ_8554_1
Solid phase hybridization
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,TXNRD2,AIFM3
nord_11_ASD_discovery_cases-243-1
PCR
De novo
DGCR10,DGCR5,DGCR6,DGCR9,PRODH
Decreased PRODH expression
oikonomakis_16_ASD_discovery_cases-case102
Unknown
DGCR6,PRODH,DGCR5,DGCR9
oikonomakis_16_ASD_discovery_cases-case615
Unknown
DGCR6,PRODH,DGCR5,DGCR9
oikonomakis_16_ASD_discovery_cases-case715
Unknown
PPP1R26P4,E2F6P1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
oyetunji_20_ASD/DD/ID_discovery_cases-case1
Unknown
Multi-generational
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,DGCR5,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
oyetunji_20_ASD/DD/ID_discovery_cases-case2
Unknown (not maternal)
Extended multiplex
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
panigrahi_24_ASD/DD/ID_discovery_cases-case14
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,MIR649,KRT18P5,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,SEPTIN5,RANBP1,LINC01637,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
pfundt_16_NDD_discovery_cases-case100
POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,PI4KAP2,MAPK1,IGLV10-54,PRAMENP
pfundt_16_NDD_discovery_cases-case106
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
pfundt_16_NDD_discovery_cases-case117
USP18 GGT3P DGCR6 PRODH DGCR5 DGCR9 DGCR10
pfundt_16_NDD_discovery_cases-case127
USP18 GGT3P DGCR6 PRODH DGCR5 DGCR9 DGCR10
pfundt_16_NDD_discovery_cases-case19
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2
pfundt_16_NDD_discovery_cases-case52
DGCR6,PRODH
pfundt_16_NDD_discovery_cases-case70
Array SNP (Affymetrix CytoScan HD)
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,TXNRD2,AIFM3
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient4
Maternal
Multi-generational
Unknown
DGCR6,PRODH,DGCR5,DGCR9
pinto_10_ASD_discovery_cases-case3067_005
qPCR-Paternal
paternal
Multiplex
Not segregated (CNV present in only one affected sib)
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
pinto_10_ASD_discovery_cases-case3127_004
qPCR-Paternal
paternal
Multiplex
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
pinto_10_ASD_discovery_cases-case3183_007
qPCR-Denovo
De novo
Simplex
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
pinto_10_ASD_discovery_cases-case5261_4
qPCR-Paternal
paternal
Multiplex (maternal half-sib)
Not segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
pinto_10_ASD_discovery_cases-case5378_3
qPCR-Paternal
paternal
Multiplex
Segregated
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,USP41,ZNF74,SCARF2,SMPD4P1,KLHL22,MED15
pinto_10_ASD_discovery_cases-case5510_3
Agilent1M
maternal
NA
NA
DGCR9,GGT3P,DGCR5,DGCR6,PRODH,DGCR10
pinto_10_ASD_discovery_cases-case6057_3
qPCR, MLPA
paternal
Multiplex
Segregated
MED15
pinto_10_ASD_discovery_cases-case6340_3
qPCR-Bothparents
paternal
NA
NA
UBE2L3
pinto_14_ASD_discovery_cases2-case16074_1571042001
qPCR
Paternal
Simplex
Unknown (sibling with ADHD not tested)
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
pinto_14_ASD_discovery_cases2-case17015_1
qPCR
De novo
Simplex
Likely segregated (not tested)
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
pinto_14_ASD_discovery_cases2-case4271_1
qPCR (Griswold et al. 2011, PMID: 21360829)
De novo
Simplex
Segregated (not present in unaffected sibling)
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
pinto_14_ASD_discovery_cases2-case8627_201
qPCR
De novo
Simplex
Likely segregated (2 healthy brothers, not tested)
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
poultney_13_ASD_discovery_cases-case04HI2802A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SERPIND1,PI4KA
poultney_13_ASD_discovery_cases-case98HI0168A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
DGCR10,CA15P1,DGCR11,PRODH,DGCR5,DGCR2,DGCR9
prasad_12_ASD_discovery_cases-case100141
Unknown
Unknown
Unknown
MICAL3
prasad_12_ASD_discovery_cases-case100677L
Unknown
Unknown
Unknown
ZDHHC8
prasad_12_ASD_discovery_cases-case118909L
qPCR
Unknown (not maternal)
Simplex
Segregated
CECR2
prasad_12_ASD_discovery_cases-case124632L
Unknown
Unknown
Unknown
CECR2
prasad_12_ASD_discovery_cases-case154269L
Unknown
Unknown
Unknown
P2RX6P,RIMBP3,TMEM191A,PI4KA,KLHL22,SLC7A4,MIR185,POM121L8P,GNB1L,TBX1,MIR3618,MIR1306,SEPT5,GP1BB,ZNF74,P2RX6,DGCR9,PRODH,BCRP2,PI4KAP1,HIC2,C22orf29,TMEM191B,DGCR2,DGCR5,DGCR6,LOC400891,C22orf39,C22orf25,DGCR6L,MED15,CRKL,TXNRD2,CLDN5,LOC150197,RTN4R,TSSK2,GSC2,RIMBP3B,ARVCF,SLC25A1,COMT,DGCR8,AIFM3,CLTCL1,SERPIND1,SCARF2,HIRA,THAP7,MIR1286,RANBP1,RIMBP3C,POM121L4P,SNAP29,UFD1L,DGCR11,DGCR10,MRPL40,DGCR14,ZDHHC8,CDC45,TRMT2A,FLJ39582,LZTR1,LOC150185,MGC16703,SEPT5-GP1BB
prasad_12_ASD_discovery_cases-case46407
Unknown
Unknown
Unknown
P2RX6P,RIMBP3,TMEM191A,PI4KA,KLHL22,SLC7A4,MIR185,GNB1L,TBX1,MIR3618,MIR1306,SEPT5,GP1BB,ZNF74,P2RX6,DGCR9,PRODH,BCRP2,PI4KAP1,C22orf29,TMEM191B,DGCR2,DGCR5,DGCR6,LOC400891,C22orf39,C22orf25,DGCR6L,MED15,CRKL,TXNRD2,CLDN5,LOC150197,RTN4R,TSSK2,GSC2,ARVCF,SLC25A1,COMT,DGCR8,AIFM3,CLTCL1,USP18,SERPIND1,SCARF2,HIRA,THAP7,MIR1286,RANBP1,GGT3P,POM121L4P,SNAP29,UFD1L,DGCR11,DGCR10,MRPL40,DGCR14,ZDHHC8,CDC45,TRMT2A,FLJ39582,LZTR1,LOC150185,MGC16703,SEPT5-GP1BB
prasad_12_ASD_discovery_cases-case76066
Unknown
Unknown
Unknown
P2RX6P,RIMBP3,TMEM191A,PI4KA,KLHL22,SLC7A4,MIR185,GNB1L,TBX1,MIR3618,MIR1306,SEPT5,GP1BB,ZNF74,P2RX6,DGCR9,PRODH,BCRP2,PI4KAP1,C22orf29,TMEM191B,DGCR2,DGCR5,DGCR6,LOC400891,C22orf39,C22orf25,DGCR6L,MED15,CRKL,TXNRD2,CLDN5,LOC150197,RTN4R,TSSK2,GSC2,ARVCF,SLC25A1,COMT,DGCR8,AIFM3,CLTCL1,USP18,SERPIND1,SCARF2,HIRA,THAP7,MIR1286,RANBP1,GGT3P,POM121L4P,SNAP29,UFD1L,DGCR11,DGCR10,MRPL40,DGCR14,ZDHHC8,CDC45,TRMT2A,FLJ39582,LZTR1,LOC150185,MGC16703,SEPT5-GP1BB
quintela_17_DD/ID_discovery_cases-caseID_122
Maternal
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
quintela_17_DD/ID_discovery_cases-caseID_167
De novo
Possibly segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
quintela_17_DD/ID_discovery_cases-caseID_176
Unknown
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
quintela_17_DD/ID_discovery_cases-caseID_198
De novo
Possibly segregated
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
quintela_17_DD/ID_discovery_cases-caseID_305
Maternal
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
quintela_17_DD/ID_discovery_cases-caseID_377
Unknown (not paternal)
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
quintela_17_DD/ID_discovery_cases-caseID_382
Unknown
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
quintela_17_DD/ID_discovery_cases-caseID_468
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
reinthaler_14_EP_discovery_cases-caseAVRE04
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,MAPK1,TXNRD2,AIFM3
reinthaler_14_EP_discovery_cases-caseF3-II.1
Unknown
Simplex
Unknown
GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase23
BACs aCGH or FISH
Paternal
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TUBA8,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase24
BACs aCGH or FISH
Unknown (not maternal)
Unknown
Unknown
ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7,P2RX6,SLC7A4
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase24
BACs aCGH or FISH
Unknown (not maternal)
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase25
BACs aCGH or FISH
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
rosenfeld_10_ASD_discovery_cases-case10361
FISH
Unknown
Unknown
Unknown
DGCR2,DGCR14,TSSK2,GSC2,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1L,CDC45,CLDN5,SEPT5,GP1BB,TBX1,GNB1L,C22orf29,TXNRD2,COMT,ARVCF,C22orf25,DGCR8,TRMT2A,RANBP1,ZDHHC8,LOC388849,RTN4R,DGCR6L,TMEM191B,RIMBP3,ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7
rosenfeld_10_ASD_discovery_cases-case12612
FISH
Unknown
Unknown
Unknown
DGCR2,DGCR14,TSSK2,GSC2,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1L,CDC45,CLDN5,SEPT5,GP1BB,TBX1,GNB1L,C22orf29,TXNRD2,COMT,ARVCF,C22orf25,DGCR8,TRMT2A,RANBP1,ZDHHC8,LOC388849,RTN4R,DGCR6L,TMEM191B,RIMBP3,ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7
rosenfeld_10_ASD_discovery_cases-case13282
FISH
Maternal
Unknown
Unknown
ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7
rosenfeld_10_ASD_discovery_cases-case20534
FISH
De novo
Unknown
Unknown
DGCR2,DGCR14,TSSK2,GSC2,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1L,CDC45,CLDN5,SEPT5,GP1BB,TBX1,GNB1L,C22orf29,TXNRD2,COMT,ARVCF,C22orf25,DGCR8,TRMT2A,RANBP1,ZDHHC8,LOC388849,RTN4R,DGCR6L,TMEM191B,RIMBP3,ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7
rosenfeld_10_ASD_discovery_cases-case20723
FISH
Unknown
Unknown
Unknown
DGCR2,DGCR14,TSSK2,GSC2,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1L,CDC45,CLDN5,SEPT5,GP1BB,TBX1,GNB1L,C22orf29,TXNRD2,COMT,ARVCF,C22orf25,DGCR8,TRMT2A,RANBP1,ZDHHC8,LOC388849,RTN4R,DGCR6L,TMEM191B,RIMBP3,ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7
rosenfeld_10_ASD_discovery_cases-case21380
FISH
Unknown
Unknown
Unknown
DGCR2,DGCR14,TSSK2,GSC2,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1L,CDC45,CLDN5,SEPT5,GP1BB,TBX1,GNB1L,C22orf29,TXNRD2,COMT,ARVCF,C22orf25,DGCR8,TRMT2A,RANBP1,ZDHHC8,LOC388849,RTN4R,DGCR6L,TMEM191B,RIMBP3,ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7
rosenfeld_10_ASD_discovery_cases-case22610
FISH
Unknown
Unknown
Unknown
DGCR2,DGCR14,TSSK2,GSC2,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1L,CDC45,CLDN5,SEPT5,GP1BB,TBX1,GNB1L,C22orf29,TXNRD2,COMT,ARVCF,C22orf25,DGCR8,TRMT2A,RANBP1,ZDHHC8,LOC388849,RTN4R,DGCR6L,TMEM191B,RIMBP3,ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7
rosenfeld_10_ASD_discovery_cases-case24490
FISH
Paternal
Unknown
Unknown
ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7
rosenfeld_10_ASD_discovery_cases-case3365
FISH
Unknown
Unknown
Unknown
DGCR2,DGCR14,TSSK2,GSC2,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1L,CDC45,CLDN5,SEPT5,GP1BB,TBX1,GNB1L,C22orf29,TXNRD2,COMT,ARVCF,C22orf25,DGCR8,TRMT2A,RANBP1,ZDHHC8,LOC388849,RTN4R,DGCR6L,TMEM191B,RIMBP3,ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7
rosenfeld_10_ASD_discovery_cases-case9591
FISH
Paternal
Unknown
Unknown
ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7
saia_23_TS_discovery_cases-case2
MLPA, RT-PCR
De novo
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,RIMBP3,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,CCDC188,LRRC74B,MIR185,CA15P2,P2RX6P,THAP7-AS1,FAM230E,SMPD4P1,TUBA3GP,BCRP5,GGTLC3,MIR649,PI4KAP1,KRT18P5,FAM230A,TMEM191B,GGTLC5P,ABHD17AP4,FAM230J,SUSD2P2,PPP1R26P4,PPP1R26P2,BCRP7,PPP1R26P3,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230D,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,RN7SKP131,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246B,FAM247B,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,USP18,DGCR11,DGCR5,TSSK1A,TSSK2
saia_23_TS_discovery_cases-case8
MLPA, RT-PCR
Paternal
Paternal
CRKL,MED15,TMEM191A,THAP7,KLHL22,SCARF2,SLC9A3P2,TUBA3FP,AIFM3,SERPIND1,POM121L4P,LRRC74B,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,MIR649,KRT18P5,ABHD17AP4,IGLL4P,RNY1P9,CCDC74BP1,PI4KA,LINC01637,SLC7A4,RNU6-225P,RN7SL812P,ZNF74,LZTR1,P2RX6,SNAP29
sajan_13_ACC/CBLH/PMG_discovery_cases-case1329-0
qPCR
Unknown
Unknown
Unknown
GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-350a1
qPCR
Paternal
Unknown
Unknown
GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
sanders_11_ASD_discovery_cases-11030.p1
Paternal
Simplex (quad-proband matched)
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_cases-11041.p1
Maternal
Simplex (quad-proband matched)
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_cases-11045.p1
Both parents
Simplex (quad-proband matched)
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
PI4KAP1, RIMBP3
sanders_11_ASD_discovery_cases-11164.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_cases-11212.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PI4KAP1, RIMBP3
sanders_11_ASD_discovery_cases-11227.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11250.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11262.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_cases-11275.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PI4KAP1, RIMBP3
sanders_11_ASD_discovery_cases-11304.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PI4KAP1, RIMBP3
sanders_11_ASD_discovery_cases-11331.p1
Paternal
Simplex (trio)
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_cases-11348.p1
Both parents
Simplex (quad-proband matched)
Not segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_cases-11391.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PI4KAP1
sanders_11_ASD_discovery_cases-11436.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SKP131,RIMBP3,PI4KAP1
sanders_11_ASD_discovery_cases-11437.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PI4KAP1, RIMBP3
sanders_11_ASD_discovery_cases-11470.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11510.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ARVCF
sanders_11_ASD_discovery_cases-11541.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_cases-11563.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GNB1L
sanders_11_ASD_discovery_cases-11629.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01651,RIMBP3B,RN7SKP63
sanders_11_ASD_discovery_cases-11629.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM191C,RN7SKP221,RIMBP3C,UBE2L3,PI4KAP2
sanders_11_ASD_discovery_cases-11644.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GNB1L
sanders_11_ASD_discovery_cases-11753.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01651,RIMBP3B,RN7SKP63
sanders_11_ASD_discovery_cases-11773.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMEM191C,PI4KAP2
sanders_11_ASD_discovery_cases-11775.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01651
sanders_11_ASD_discovery_cases-11800.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63
sanders_11_ASD_discovery_cases-11831.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63
sanders_11_ASD_discovery_cases-12009.p1
Paternal
Simplex (trio)
NA
PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,HIC2
sanders_11_ASD_discovery_cases-12009.p1
Paternal
Simplex (trio)
NA
TMEM191C,PI4KAP2
sanders_11_ASD_discovery_cases-12033.p1
Maternal
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-12160.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
TMEM191C,RN7SKP221,RIMBP3C,UBE2L3,PI4KAP2
sanders_11_ASD_discovery_cases-12239.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
sanders_11_ASD_discovery_cases-12239.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
sanders_11_ASD_discovery_cases-12299.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMEM191C,PI4KAP2
sanders_11_ASD_discovery_cases-12314.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12395.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12405.p1
Maternal
Simplex (trio)
NA
RIMBP3B,RN7SKP63
sanders_11_ASD_discovery_cases-12434.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,DGCR2,ESS2,CLTCL1
sanders_11_ASD_discovery_cases-12434.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01651,RIMBP3B,RN7SKP63,HIC2
sanders_11_ASD_discovery_cases-12481.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SLC7A4,MIR649,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2
sanders_11_ASD_discovery_cases-12539.p1
Maternal
Simplex (trio)
NA
LINC01651
sanders_11_ASD_discovery_cases-12587.p1
Maternal
Simplex (trio)
NA
GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_cases-12587.p1
Maternal
Simplex (trio)
NA
TMEM191C,PI4KAP2
sanders_11_ASD_discovery_cases-12587.p1
Both parents
Simplex (trio)
NA
PPP1R26P5,LINC01651
sanders_11_ASD_discovery_cases-12598.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TANGO2
sanders_11_ASD_discovery_cases-12624.p1
Both parents
Simplex (quad-proband matched)
Not segregated
RIMBP3B,RN7SKP63
sanders_11_ASD_discovery_cases-12656.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63
sanders_11_ASD_discovery_cases-12661.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,KLHL22,MED15,PI4KA,AIFM3
sanders_11_ASD_discovery_cases-12661.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC7A4,MIR649,P2RX6,P2RX6P,LRRC74B,TUBA3GP
sanders_11_ASD_discovery_cases-12742.p1
Maternal
Simplex (trio)
NA
PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63
sanders_11_ASD_discovery_cases-12832.p1
Unknown
Simplex (quad-proband matched)
Not segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_cases-12832.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPP1R26P5,LINC01651
sanders_11_ASD_discovery_cases-12878.p1
Paternal
Simplex (trio)
NA
SERPIND1,PI4KA
sanders_11_ASD_discovery_cases-13007.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63
sanders_11_ASD_discovery_cases-13014.p1
Paternal
Simplex (trio)
NA
0 genes
sanders_11_ASD_discovery_cases-13053.p1
Paternal
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-13244.p1
Unknown
Simplex (trio)
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sandoval_talamantes_23_ASD_discovery_cases-caseAUT185
Unknown
GP1BB,SEPTIN5,TBX1
sandoval_talamantes_23_ASD_discovery_cases-caseAUT7
Unknown
PRODH,DGCR6,DGCR5
sansovic_17_DD/ID/ASD_discovery_cases-case20
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
sansovic_17_DD/ID/ASD_discovery_cases-case34
Maternal
PPP1R26P4,E2F6P1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
sansovic_17_DD/ID/ASD_discovery_cases-case37
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
sansovic_17_DD/ID/ASD_discovery_cases-case54
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
shin_15_ASD/DD/ID_discovery_cases-case14
Array SNP (Affymetrix CytoScan 750K)
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
speevak_11_DD_discovery_cases-case1
Unknown
NA
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
speevak_11_DD_discovery_cases-case1
Unknown
NA
NA
0 genes
stamouli_18_ASD/NDD_discovery_cases-family61_Twin_2
Unknown
Simplex
Not segregated (CNV also present in unaffected twin)
USP41,ZNF74
stobbe_13_ASD_discovery_cases-case19
Unknown
Unknown (possible simplex)
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
streata_22_ASD/DD/ID_discovery_cases-case137
CMA, karyotyping, and/or MLPA
De novo
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
streata_22_ASD/DD/ID_discovery_cases-case290
CMA, karyotyping, and/or MLPA
De novo
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,POM121L8P,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GGT3P,GSC2,POM121L4P,LINC02891,E2F6P1,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,BCRP6,ABHD17AP4,BCRP7,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,FAM230H,CA15P1,RNY1P9,CCDC74BP1,FAM230F,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
szatmari_07_ASD_discovery_cases-NAAR063-A10-HI1180
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
szatmari_07_ASD_discovery_cases-NAAR063-B1-HI1183_2
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,TXNRD2,AIFM3
tammimies_15_ASD_discovery_cases-case3-0437-000
Paternal
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,TXNRD2,AIFM3
tropeano_13_DD/ASD_discovery_cases-case11
Unknown
SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,IGLV2-34,IGLV2-33,IGLV3-32,IGLV3-31,IGLV3-30,BCRP4,GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,IGLV3-1,MIR5571,IGLJ1,IGLC1,IGLJ2,IGLC2,IGLJ3,IGLC3,IGLJ4,IGLC4,IGLJ5,IGLC5,IGLJ6,IGLC6,IGLJ7,IGLC7,BCRP8,RN7SL263P,FBXW4P1,LINC02556,LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,POM121L1P,IGLV2-8,IGLL5,GNAZ,RAB36,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,PI4KAP2,MAPK1,IGLV10-54,BCR,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,PRAMENP,RSPH14,CABIN1
tropeano_16_ASD_discovery_cases-MAAS15
MLPA or aCGH
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
tropeano_16_ASD_discovery_cases-MAAS23
MLPA or aCGH
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
tropeano_16_ASD_discovery_cases-MAAS24
MLPA or aCGH
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
tropeano_16_ASD_discovery_cases-MAAS27
MLPA or aCGH
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
tropeano_16_ASD_discovery_cases-MAAS6
MLPA or aCGH
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
tzetis_12_DD/ID_discovery_cases-case56
De novo
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
tzetis_12_DD/ID_discovery_cases-case57
De novo
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
tzetis_12_DD/ID_discovery_cases-case59
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
tzetis_12_DD/ID_discovery_cases-case80
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,IGLV2-34,IGLV2-33,IGLV3-32,IGLV3-31,IGLV3-30,BCRP4,GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,POM121L1P,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,MAPK1,IGLV10-54,TXNRD2,AIFM3,PRAMENP
wang_18_TS_discovery_cases-caseC1008-03
CNV validation not attempted
De novo
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
wenger_16_ASD_discovery_cases-case21
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
wenger_16_ASD_discovery_cases-case22
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
wenger_16_ASD_discovery_cases-case23
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
wenger_16_ASD_discovery_cases-case24
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
wenger_16_ASD_discovery_cases-case26
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
wenger_16_ASD_discovery_cases-case27
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
woodbury-smith_20_BAP_discovery_cases-case2-1005-002
Unknown
Extended multiplex
Not segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
woodward_19_ASD/DD/ID_discovery_cases-case1
Paternal
Multiplex
Segregated
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
woodward_19_ASD/DD/ID_discovery_cases-case10
Maternal
Simplex
Unknown
LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,PI4KA,AIFM3
woodward_19_ASD/DD/ID_discovery_cases-case12
Unknown
Multi-generational
Unknown
LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,PI4KA,AIFM3
woodward_19_ASD/DD/ID_discovery_cases-case13
Unknown (not maternal)
Simplex
Unknown
LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,PI4KA,AIFM3
woodward_19_ASD/DD/ID_discovery_cases-case2
Paternal
Multiplex
Segregated
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
woodward_19_ASD/DD/ID_discovery_cases-case4
Maternal
Multiplex
Segregated
IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,SMPD4P1,POM121L4P,PI4KA
woodward_19_ASD/DD/ID_discovery_cases-case5
Maternal
Multiplex
Segregated
IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,SMPD4P1,POM121L4P,PI4KA
woodward_19_ASD/DD/ID_discovery_cases-case6
Maternal
Multiplex
Segregated
IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,SMPD4P1,POM121L4P,PI4KA
woodward_19_ASD/DD/ID_discovery_cases-case8
Maternal
Simplex
Unknown
ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,PI4KA,AIFM3
xu_16_ASD/DD/ID_discovery_cases-case15
De novo
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
xu_16_ASD/DD/ID_discovery_cases-case16
Unknown (not maternal)
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,TXNRD2,AIFM3
yap_21_ASD_discovery_cases-case1101491
Unknown
ARVCF,CRKL,COMT,TRMT2A,MED15,ZDHHC8,GNB1L,DGCR8,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,SCARF2,RIMBP3,KLHL22,DGCR6L,TUBA3FP,C22orf39,TANGO2,SLC9A3P2,LINC00895,LINC00896,AIFM3,SERPIND1,GSC2,GP1BB,GGT3P,POM121L4P,USP41,E2F6P1,CCDC188,LRRC74B,BCRP2,CA15P2,MIR185,THAP7-AS1,P2RX6P,FAM230E,SMPD4P1,BCRP5,TUBA3GP,FAM230A,PI4KAP1,GGTLC3,TMEM191B,GGTLC5P,KRT18P5,MIR649,ABHD17AP4,FAM230J,SUSD2P2,BCRP7,PPP1R26P4,PPP1R26P2,PPP1R26P3,KRT18P62,IGLL4P,MIR1286,MIR1306,MIR3618,MIR4761,LINC01311,CCDC74BP1,RNY1P9,FAM230F,CA15P1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,RN7SKP131,SLC25A1,HIRA,UFD1,CLDN5,SLC7A4,TBX1,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,ZNF74,LZTR1,ESS2,CLTCL1,CDC45,DGCR6,FAM246C,FAM247B,FAM246B,P2RX6,SNAP29,DGCR2,TXNRD2,DGCR5,DGCR11,TSSK1A,TSSK2
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case1
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
Downregulated expression of multiple genes, including DGCR6, PRODH, and COMT
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case8
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
yin_16_ASD_discovery_cases-case614
Unknown
Unknown
Unknown
USP18
yin_16_ASD_discovery_cases-case615
Unknown
Unknown
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,DGCR2,RN7SL168P,UFD1,CDC45,DGCR9,ESS2,CLTCL1,HIRA,C22orf39
yin_16_ASD_discovery_cases-case616
Unknown
Unknown
Unknown
GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
yin_16_ASD_discovery_cases-case617
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
yin_16_ASD_discovery_cases-case618
Unknown
Unknown
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
yin_16_ASD_discovery_cases-case619
Unknown
Unknown
Unknown
POM121L7P,E2F6P2,BCRP2,FAM230B,GGT2
yin_16_ASD_discovery_cases-case620
Unknown
Unknown
Unknown
YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,MAPK1
yuan_23_ASD_discovery_cases-qma01833d000
De novo
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,CCDC188,LRRC74B,MIR185,P2RX6P,THAP7-AS1,SMPD4P1,BCRP5,MIR649,KRT18P5,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,RNY1P9,CCDC74BP1,FAM230G,PI4KA,SEPTIN5,RANBP1,LINC01637,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,LZTR1,ESS2,CLTCL1,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,TSSK1A,TSSK2
yuen_17_ASD_discovery_cases-case1-0297-003
Agilent 1M
Unknown
Simplex
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
yuen_17_ASD_discovery_cases-case2-1370-003
CNV not detected by WGS, identified via Affymetrix CytoScan HD
De novo
Simplex
Segregated
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
yuen_17_ASD_discovery_cases-case7-0066-003
Affymetrix CytoScan HD
Unknown
Simplex
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-1016-003
RT-qPCR or WGS
Paternal
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case10-1076-004
RT-qPCR or WGS
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP18,FAM230D,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case180909
RT-qPCR or WGS
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP18,FAM230D,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1370-003
RT-qPCR or WGS
De novo
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,USP18,FAM230D,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230H,HIC2,UBE2L3,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,FAM230F,TXNRD2,AIFM3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1753-003
RT-qPCR or WGS
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case210959
RT-qPCR or WGS
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP18,FAM230D,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case218111
RT-qPCR or WGS
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0437-000
RT-qPCR or WGS
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,USP18,FAM230D,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230H,HIC2,UBE2L3,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,FAM230F,TXNRD2,AIFM3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0624-000
RT-qPCR or WGS
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0066-003
RT-qPCR or WGS
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP18,FAM230D,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0260-003
RT-qPCR or WGS
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case78142
RT-qPCR or WGS
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case78729
RT-qPCR or WGS
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,USP18,FAM230D,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,FAM230H,HIC2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case80100
RT-qPCR or WGS
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case80446
RT-qPCR or WGS
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPTIN5,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,SNORA77B,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,FAM230J,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,FAM230G,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,FAM230E,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,FAM230F,TXNRD2,AIFM3
null
zhang_23_ASD/DD/ID_discovery_cases-caseASD0018
qPCR
De novo
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,SMPD4P1,TUBA3GP,BCRP5,MIR649,KRT18P5,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
zhou_19_ASD_discovery_cases-caseAU033603
qPCR
De novo
RTL10,MIR4761,TBX1,COMT,ARVCF,GNB1L,TXNRD2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chen_17_ASD_discovery_controls1-control10
Unknown
E2F6P1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
chen_17_ASD_discovery_controls1-control11
Unknown
E2F6P1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
chen_17_ASD_discovery_controls1-control12
Unknown
E2F6P1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
chen_17_ASD_discovery_controls1-control13
Unknown
E2F6P1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
chen_17_ASD_discovery_controls1-control14
Unknown
E2F6P1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
chen_17_ASD_discovery_controls1-control15
Unknown
E2F6P1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
chen_17_ASD_discovery_controls1-control16
Unknown
E2F6P1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
chen_17_ASD_discovery_controls1-control17
Unknown
E2F6P1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
chen_17_ASD_discovery_controls1-control9
Unknown
E2F6P1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR9
engchuan_15_ASD_discovery_controls-control110036020568_
Unknown
TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2
engchuan_15_ASD_discovery_controls-controlB231021_1007853960
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlB233337_1007875219
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlB246256_1007853712
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlB356202_1007844561
Unknown
DGCR8,TANGO2
engchuan_15_ASD_discovery_controls-controlB365205_1007853975
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlB385260_1007874854
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlB414618_1007854093
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlB462693_1007873290
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlB482489_1007872861
Unknown
LRRC74B,TUBA3GP,BCRP2
engchuan_15_ASD_discovery_controls-controlB494938_1007853807
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlB584983_1007848513
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlB589516_1007872578
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlB635249_1007846490
Unknown
TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,DGCR2,ESS2,CLTCL1
engchuan_15_ASD_discovery_controls-controlB693210_1007854347
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlB703091_1007854088
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlB837205_1007852918
Unknown
DGCR5;DGCR6;DGCR9;GGT3P;PRODH
engchuan_15_ASD_discovery_controls-controlB843802_1007872268
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlB928258_1007854097
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,TXNRD2
engchuan_15_ASD_discovery_controls-controlB928258_1007854097
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
engchuan_15_ASD_discovery_controls-controlHABC_900251_900251
Unknown
DGCR10;DGCR5;DGCR6;DGCR9;GGT3P;PRODH;USP18
engchuan_15_ASD_discovery_controls-controlHABC_900297_900297
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlHABC_901072_901072
Unknown
PI4KAP1;RIMBP3;TMEM191B
engchuan_15_ASD_discovery_controls-controlHABC_902455_902455
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,USP41,ZNF74,SCARF2,KLHL22,MED15
engchuan_15_ASD_discovery_controls-controlHABC_902710_902710
Unknown
DGCR5;DGCR6;DGCR9;GGT3P;PRODH
engchuan_15_ASD_discovery_controls-controlHABC_902875_902875
Unknown
PI4KAP1;RIMBP3;TMEM191B
girirajan_11_ASD_discovery_controls-NIMH_296
Unknown
RTN4R,DGCR6L
girirajan_12_ASD/DD/ID_discovery_controls-control109
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_controls-control110
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_controls-control111
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_controls-control112
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_12_ASD/DD/ID_discovery_controls-control113
NA
Unknown
Unknown
Unknown
CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
girirajan_13b_ASD_discovery_controls-11509111055
Unknown
CCDC188,LINC00896,MIR1286,ZDHHC8,RTN4R,DGCR6L
girirajan_13b_ASD_discovery_controls-13703100328
Unknown
LINC00896,MIR1286,RTN4R
girirajan_13b_ASD_discovery_controls-15607108080
Unknown
DGCR6,PRODH,DGCR5,DGCR9
girirajan_13b_ASD_discovery_controls-17203100441
Unknown
DGCR6,PRODH,DGCR5,DGCR9
girirajan_13b_ASD_discovery_controls-2105102564
Unknown
DGCR10,DGCR6,PRODH,DGCR5,DGCR9
girirajan_13b_ASD_discovery_controls-31407108557
Unknown
PRODH,DGCR5,DGCR9
girirajan_13b_ASD_discovery_controls-4506105599
Unknown
LINC00896,MIR1286,RTN4R
girirajan_13b_ASD_discovery_controls-54206107480
Unknown
TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,DGCR8,RANBP1,ZDHHC8,RTN4R
girirajan_13b_ASD_discovery_controls-54305104360
Unknown
CCDC188,LINC00896,ZDHHC8,RTN4R
girirajan_13b_ASD_discovery_controls-57305104494
Unknown
DGCR10,DGCR6,PRODH,DGCR5,DGCR9
girirajan_13b_ASD_discovery_controls-57705104509
Unknown
LINC00896,MIR1286,RTN4R
girirajan_13b_ASD_discovery_controls-70305105431
Unknown
LINC00896,MIR1286,RTN4R
itsara_10_ASD_discovery_controls_2-10421
aCGH (custom NimbleGen 12 X 135)
De novo
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
itsara_10_ASD_discovery_controls_2-2648
aCGH (custom NimbleGen 12 X 135)
De novo
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_controls-control0052
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_controls-control0053
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_controls-control0054
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_controls-control0055
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kaminsky_11_DD/ID/ASD_discovery_controls-control0056
Unknown
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kanduri_15_ASD_discovery_controls-control_split1482
Unknown
DGCR6,PRODH
kanduri_15_ASD_discovery_controls-control_split650
Unknown
DGCR6,PRODH
kanduri_15_ASD_discovery_controls-control_split762
Unknown
AIFM3,CRKL,KLHL22,LZTR1,MED15,P2RX6,PI4KA,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,ZNF74
krumm_13_ASD_discovery_controls-control12481.s1
Paternal
Simplex
SLC7A4,P2RX6
krumm_15_ASD_discovery_controls-control12434.s1
Illumina 1MDuo
Paternal
TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,DGCR2,ESS2,CLTCL1
krumm_15_ASD_discovery_controls-control12481.s1
Illumina 1MDuo
Paternal
SLC7A4,P2RX6
krumm_15_ASD_discovery_controls-control12598.s1
Illumina 1MDuo
Maternal
TANGO2
krumm_15_ASD_discovery_controls-control13653.s1
Omni2.5-4v1
De novo
LINC01637,THAP7,TUBA3FP,SLC7A4,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,PI4KA,AIFM3
krumm_15_ASD_discovery_controls-control14119.s1
Omni2.5-4v1
Paternal
TANGO2
krumm_15_ASD_discovery_controls-control14468.s1
Omni2.5-4v1
De novo
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,USP18,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_18_ASD/SCZ_discovery_controls-controlCON0902
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,TXNRD2,AIFM3
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0902
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON3163
qRT-PCR
Unknown
ARVCF,CRKL,COMT,TRMT2A,ZDHHC8,MED15,DGCR8,GNB1L,MRPL40,RTN4R,RTL10,TMEM191A,THAP7,KLHL22,SCARF2,DGCR6L,TANGO2,C22orf39,SLC9A3P2,TUBA3FP,LINC00895,LINC00896,AIFM3,SERPIND1,GP1BB,GSC2,POM121L4P,LINC02891,USP41,E2F6P2,CCDC188,LRRC74B,BCRP2,MIR185,P2RX6P,THAP7-AS1,FAM230B,SMPD4P1,TUBA3GP,BCRP5,POM121L7P,MIR649,KRT18P5,GGT2,ABHD17AP4,IGLL4P,KRT18P62,MIR1306,MIR1286,E2F6P3,MIR3618,MIR4761,LINC01311,CA15P1,RNY1P9,CCDC74BP1,FAM230G,PI4KA,PRODH,SEPTIN5,RANBP1,LINC01637,MIR6816,FAM247A,CLDN5,SLC25A1,TBX1,UFD1,SLC7A4,HIRA,RNU6-225P,RN7SL812P,RN7SL168P,SNORA77B,CDC45,ZNF74,DGCR6,LZTR1,ESS2,CLTCL1,FAM246C,DGCR2,P2RX6,SNAP29,TXNRD2,DGCR11,DGCR5,TSSK1A,TSSK2
leppa_16_ASD_discovery_controls-AU1957301
Paternal
Simplex
RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
leppa_16_ASD_discovery_controls-AU1957305
Paternal
Simplex
RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,KLHL22,MED15,PI4KA,AIFM3
levy_11_ASD_discovery_controls-11969.s1
Paternal
Simplex
NA
TANGO2
levy_11_ASD_discovery_controls-12434.s1
Paternal
Simplex
NA
TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,DGCR2,ESS2,CLTCL1
poultney_13_ASD_discovery_controls-control04C29633A
Unknown
DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
poultney_13_ASD_discovery_controls-control04C29633A
Unknown
LINC01637,THAP7,TUBA3FP,SLC7A4,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,PI4KA,AIFM3
poultney_13_ASD_discovery_controls-control04C29633A
Unknown
RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,ZNF74,SCARF2,SMPD4P1,POM121L4P,KLHL22,MED15,PI4KA
poultney_13_ASD_discovery_controls-control04C34751A
Unknown
PI4KA
sanders_11_ASD_discovery_controls-11052.s1
Paternal
Simplex (quad)
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_controls-11075.s1
Unknown
Simplex (quad)
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_controls-11227.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11262.s1
Maternal
Simplex (quad)
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_controls-11266.s1
Unknown
Simplex (quad)
NA
PI4KAP1, RIMBP3
sanders_11_ASD_discovery_controls-11266.s1
Paternal
Simplex (quad)
NA
TMEM191C,PI4KAP2
sanders_11_ASD_discovery_controls-11316.s1
Unknown
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11323.s1
Maternal
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11346.s1
Paternal
Simplex (quad)
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_controls-11357.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11470.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11522.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11541.s1
Maternal
Simplex (quad)
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_controls-11981.s1
Paternal
Simplex (quad)
NA
PI4KAP1, RIMBP3
sanders_11_ASD_discovery_controls-11981.s1
Paternal
Simplex (quad)
NA
TMEM191C,PI4KAP2
sanders_11_ASD_discovery_controls-11981.s1
Paternal
Simplex (quad)
NA
PPP1R26P5,LINC01651
sanders_11_ASD_discovery_controls-11986.s1
Unknown
Simplex (quad)
NA
MIR1286,RTN4R
sanders_11_ASD_discovery_controls-12048.s1
Paternal
Simplex (quad)
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_controls-12068.s1
Paternal
Simplex (quad)
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_controls-12152.s1
Paternal
Simplex (quad)
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_controls-12240.s1
Paternal
Simplex (quad)
NA
PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63
sanders_11_ASD_discovery_controls-12370.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12434.s1
Paternal
Simplex (quad)
NA
TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,DGCR2,ESS2,CLTCL1
sanders_11_ASD_discovery_controls-12481.s1
Paternal
Simplex (quad)
NA
SLC7A4,MIR649,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2
sanders_11_ASD_discovery_controls-12574.s1
Paternal
Simplex (quad)
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_controls-12598.s1
Maternal
Simplex (quad)
NA
TANGO2
sanders_11_ASD_discovery_controls-12619.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12638.s1
Both parents
Simplex (quad)
NA
GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,TMEM191B,PI4KAP1
sanders_11_ASD_discovery_controls-12832.s1
Unknown
Simplex (quad)
NA
GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,TMEM191B,PI4KAP1,FAM230A
sanders_11_ASD_discovery_controls-12832.s1
Both parents
Simplex (quad)
NA
PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63
sanders_11_ASD_discovery_controls-12930.s1
Paternal
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-12984.s1
Both parents
Simplex (quad)
NA
PPP1R26P5,LINC01651
stamouli_18_ASD/NDD_discovery_controls-family61_Twin_1
Unknown
Simplex
USP41,ZNF74
wang_10_ASD_discovery_controls-Aut94
Unknown
NA
NA
RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,KLHL22,MED15,PI4KA,AIFM3
wang_10_ASD_discovery_controls-Aut94
Unknown
NA
NA
MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,HIRA,C22orf39,GNB1L,TANGO2,TXNRD2
No Animal Model Data Available