1q21.1CNV Type: Deletion-Duplication
Largest CNV size: 1820132 bp
Statistics Box:
Number of Reports: 64
Number of Reports: 64
Summary Information
CNVs observed within this locus include many genes. Individuals with microdeletions at the 1q21.1 locus can have variable clinical manifestations, such as microcephaly and intellectual disability.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion-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.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
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
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
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
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
A large data resource of genomic copy number variation across neurodevelopmental disorders
Deletion-Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders.
Deletion
Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Deletion
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
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 variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
Deletion
Diagnostic yield of patients with undiagnosed intellectual disability
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
1200000
0
1
1
bourgois_23_ASD/ADHD/DD_discovery_cases
Cases with 1q21.1-q21.2 copy number variation (from an initial cohort of 34 previously unreported individuals referred to the Department of Clinical Genetics at the Caen hospital for developmental delay, intellectual disability, dysmorphic features and/or congenital anomalies from 2008 to 2020)
30
The most common neurodevelopmental/behavioral phenotypes observed in cases from this report included autism spectrum disorder (n=3), ADHD (n=8), and developmental delay (n=14).
Range, fetus-51 yrs.
60% Male
1124556
1
5
6
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
900000
1
0
1
ceylan_19_DD/ID_discovery_cases
Unrelated individuals presenting with 1q21.1 CNVs from a cohort of approximately 10,000 DD/ID patients evaluated between December 2014 and April 2017 at three hospitals
8
All cases presented with developmental delay and/or intellectual disability (DD/ID); one case was diagnosed with ASD, while another presented with autistic features.
Range, 40 days-17 years
37.5% Male
889000
1
0
1
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
54053
0
1
1
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
340000
25
56
81
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
358851
0
1
1
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
1093961
1
0
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
333882
2
2
4
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
1877403
15
15
30
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
332474
2
0
2
fry_16_DD/ID/EP/ASD_discovery_cases
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
80
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Range, <1 yr.-60 yrs.
45.0% Male
98000
0
1
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
1325311
0
4
4
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.
364942
14
2
16
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
820000
100
81
181
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
1250000
4
8
12
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
1250000
47
51
98
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
864201
6
7
13
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
893092
0
2
2
handrigan_13_ASD/DD/ID_discovery_cases
Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
35
22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
Range, 0 mos.-20 yrs.
48.57% Male
1677205
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)
1279563
1
1
2
kalsner_17_ASD_discovery_cases
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
100
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Range, 21 mos.-17 yrs.
76.0% Male
800000
0
1
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
4986056
80
42
122
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
2240000
0
1
1
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
51696
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
508662
0
1
1
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
3514332
8
3
11
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
397543
1
0
1
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
446403
2
0
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
404108
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
421464
0
1
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
427235
1
0
1
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
115000
1
1
2
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
1000000
0
3
3
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
360793
1
0
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
444000
2
0
2
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
215000
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
463276
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
N/A
45
94
139
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
1196755
1
1
2
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
1470000
2
2
4
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
1877404
1
2
3
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)
344353
3
6
9
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
182649
0
2
2
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
427157
0
1
1
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
641794
4
3
7
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
10
4
14
sahoo_11_DD_discovery_cases
Patients referred for microarray testing to Signature Genomic Laboratories for physical and/or intellectual disability and/or dysmorphic features
2
Developmental delay (DD)
Range, 3 yrs. 7 mos.-4 yrs. 2 mos.
100% Male
358000
0
1
1
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
170212
0
4
4
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
1820132
6
14
20
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
384000
0
2
2
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
338928
0
1
1
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
400000
2
0
2
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
376000
1
0
1
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
1114000
1
3
4
tuncay_22_ASD_discovery_cases
ASD probands from 22 families (20 trios, 1 quad with two affected siblings, and 1 quad with an affected proband and his unaffected fraternal twin) with recent shared ancestry that were recruited either from Jordan or from the Dallas/Fort Worth area.
23
Cases diagnosed with ASD based on standard autism diagnostic measures (ADOS, ADI-R, DSM-V)
NA
86.96% Male
1110382
1
0
1
tuncay_23_ASD_discovery_cases
ASD probands from East African families with at least one child affected with ASD (30 simplex families, 3 multiplex families).
36
Cases diagnosed with ASD using ADOS, ADI-R, and DSM-V.
Mean age, 14.8 yrs./median age, 12.7 yrs.
77.78% Male
55573
0
1
1
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)
2540000
1
0
1
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
328199
3
0
3
van_den_bossche_12_BPD_discovery_cases
Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
676
Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.
NA
NA
0
0
0
0
van_den_bossche_12_ID_discovery_cases
Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.
260
Intellectual disability (ID). Cases with total IQ<70 met definition of ID.
NA
NA
703000
2
0
2
van_den_bossche_12_MDD_discovery_cases
Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
169
Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.
NA
NA
0
0
0
0
van_den_bossche_12_SCZ_discovery_cases
Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
1281
Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.
NA
NA
703000
3
0
3
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
882000
0
1
1
woodbury-smith_14_ASD_discovery_cases
Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
19
Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
N/A
N/A
109317
1
0
1
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
1600000
1
1
2
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
1600000
1
0
1
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
299015
1
2
3
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
364000
2
0
2
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
871445
3
1
4
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
486558
0
1
1
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
340000
2
11
13
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
1062810
9
17
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.
143028
0
14
14
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
820000
2
1
3
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
0
0
0
0
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
1250000
2
1
3
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
364942
6
5
11
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
893092
NA
NA
NA
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
NA
NA
NA
NA
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
817020
4
15
19
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
0
0
0
0
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
508165
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
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
0
0
0
0
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
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
421464
1
2
3
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
1
2
3
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)
144479
1
1
2
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)
182649
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.
290523
4
3
7
van_den_bossche_12_BPD_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
2332000
1
1
2
van_den_bossche_12_ID_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
2332000
1
1
2
van_den_bossche_12_MDD_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
2332000
1
1
2
van_den_bossche_12_SCZ_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
2332000
1
1
2
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
882000
0
0
0
woodbury-smith_14_ASD_discovery_controls
Platform-matched controls from the KORA and COGEND datasets
2988
Control
N/A
N/A
0
0
0
0
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
299015
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
bourgois_23_ASD/ADHD/DD_discovery_cases
France
aCGH
Agilent 8x60K
ADM-2
Agilent Cytogenomics v.4.0.2.21
RT-qPCR
ceylan_18_DD/ID_discovery_cases
Turkish
Array SNP
Affymetrix CytoScan Optima
ChAS v.3.1
None
ceylan_19_DD/ID_discovery_cases
Turkish
aCGH, array SNP
Agilent 8x60K, Affymetrix Optima
Agilent Cytogenomics v.2.7.2, ChAS v.3.1
None
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
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
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
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
fry_16_DD/ID/EP/ASD_discovery_cases
78 White British, 1 South Asian, 1 Mixed White/South Asian
aCGH, solid phase hybridization
Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
PennCNV
Illumina BlueFuse Multi v3.1
Solid phase hybridization (Illumina)
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
aCGH (Agilent hotspot 2x400K)
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
handrigan_13_ASD/DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
None
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kalsner_17_ASD_discovery_cases
52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
CMA
Platform not reported
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
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
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
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
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
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
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
None
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
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sahoo_11_DD_discovery_cases
NA
aCGH
SignatureChipOS v2.0 135K array
None
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
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
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
shin_15_ASD/DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
None
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
tuncay_22_ASD_discovery_cases
Predominantly Middle Eastern, South Asian, and European
WGS
Illumina HiSeq X
tuncay_23_ASD_discovery_cases
East Africa (Ethiopia, Eritrea, Kenya)
WGS
Illumina NovaSeq 6000
NA
CNVkit, GISTIC2.0.
None
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
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
van_den_bossche_12_BPD_discovery_cases
264 from Belgium, 305 from Sweden, 107 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_ID_discovery_cases
Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_MDD_discovery_cases
Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_SCZ_discovery_cases
170 from Belgium, 543 from Sweden, 568 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
woodbury-smith_14_ASD_discovery_cases
US and Canada
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
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
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
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
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
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
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
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
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
None
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
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
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
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
van_den_bossche_12_BPD_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_ID_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_MDD_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_SCZ_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
woodbury-smith_14_ASD_discovery_controls
Predominantly European
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
battaglia_13_DD/ID/ASD_discovery_cases-case31
3 yrs. 7 mos.
F
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Mild DD/ID
145031367
146201635
1200000
NCBI36
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case15
1.4 yrs.
M
Birth/neonatal history: intrauterine growth retardation, premature birth. Developmental milestones: no psychomotor delay reported. Language and communication evaluation: negative for language disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: no abnormalities reported. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: inguinal/umbilical hernia, 2 hepatic shunts. Dysmorphic features: prominent forehead, thin eyebrows, widely spaced eyes, thin lips, long philtrum. Growth parameters: short stature, failure to thrive. Family history: positive for a history of learning difficulties or psychomotor delay.
No history of learning difficulties or adapted education.
145687795
146021625
333831
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case23
5 yrs.
F
Birth/neonatal history: no abnormalities reported. Developmental milestones: no psychomotor delay reported. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: auto/heteroaggressivity. Epilepsy/seizures: two febrile seizures. Brain imaging: not determined. Additional medical history: no additional abnormalities reported. Dysmorphic features: prominent forehead, anteverted nares, thin lips. Growth parameters: excessive growth (length or weight). Family history: positive for learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
145687795
146021625
333831
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case25
0.17 yrs.
F
Developmental delay
Birth/neonatal history: premature birth. Developmental milestones: psychomotor delay. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: sleep disorder, mood disorder/social or behavioral anomalies. Epilepsy/seizures: none reported. Brain imaging: no abnormalities reported. Additional medical history: strabismus, nystagmus, chorioretinal or iris coloboma, gastroesophageal reflux, feeding difficulties, oseophageal stenosis, recurrent otitis, tracheomalacia. Dysmorphic features: prominent forehead, thin eyebrows, epicanthus, anteverted nares, thin lips, retrognathia, low-set ears. Growth parameters: short stature, failure to thrive. Family history: no history of learning difficulties or psychomotor delay.
Learning difficulties.
145687795
146021625
333831
GRCh38
Deletion
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case4
9 yrs.
F
Developmental delay
Birth/neonatal history: no abnormalities reported. Developmental milestones: psychomotor delay. Language and communication evaluation: langauge disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: no abnormalities reported. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: visual impairment. Dysmorphic features: prominent forehead, upslanted palpebral fissures, anteverted nares, low-set ears. Growth parameters: no abnormalities reported. Family history: positive for a history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
145440247
146564802
1124556
GRCh37
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case8
0.75 yrs.
M
Developmental delay
Birth/neonatal history: premature birth, unspecified neonatal complication. Developmental milestones: psychomotor delay. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: hypotonia, scoliosis. Behavioral/psychiatric evaluation: auto/heteroaggressivity, sleep disorder, mood disorder. Epilepsy/seizures: none reported. Brain imaging: agenesis of the corpus callosum, polymicrogyria, interhemispheric arachnoid cyst. Additional medical history: patent ductus arteriosus, atrial septal defect, visual impairment, feeding difficulties, bilateral hydrocele. Dysmorphic features: prominent forehead, widely spaced eyes, broad nose, anteverted nares. Growth parameters: no abnormalities reported. Family history: no family history of learning difficulties or psychomotor delay.
Learning difficulties.
145687795
146021625
333831
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case9
2 yrs.
M
ASD and developmental delay
Birth/neonatal history: no abnormalities reported. Developmental milestones: psychomotor delay. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: kyphosis, pectus carinatum. Behavioral/psychiatric evaluation: autism spectrum disorder, auto/heteroaggressivity. Epilepsy/seizures: none reported. Brain imaging: no abnormalities reported. Additional medical history: gastroesophageal reflux, feeding difficulties. Dysmorphic features: prominent forehead, thin eyebrows, broad nose, anteverted nares, retrognathia. Growth parameters: no abnormalities reported. Family history: positive for a history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
145825885
146021625
195741
GRCh38
Duplication
Yes
ceylan_18_DD/ID_discovery_cases-case3
6 yrs.
N/A
Developmental delay and intellectual disability
Developmental milestones: developmental delay. Dysmorphic features: strabismus, hypertelorism. Other findings: congenital hypothyroidism.
Intellectual disability
145607915
146497779
900000
GRCh37
Deletion
No
ceylan_19_DD/ID_discovery_cases-case7
5 yrs.
F
DD and ID
Birth/neonatal history: born via normal spontaneous vaginal delivery; birth weight 2500 g (3rd-10th %ile); diagnosed with congenital primary hypothyroidism (treated regularly). Developmental milestones: developmental delay; motor delay (walking at 28 months); speech delay. Motor and musculoskeletal evaluation: normal neurological findings. Brain imaging: normal brain MRI. Visual evaluation: strabismus. Dysmorphic features: elongated face, hypertelorism, long philtrum. Growth parameters: height 115 cm (75th-90th %ile), weight 19 kg (50th-75th %ile), OFC 51 cm (0 SD). Family history: eighth child of non-consanguineous Turkish parents; all other siblings are healthy, and family history was unremarkable.
Moderate intellectual disability (Stanford-Binet)
145607915
146497779
889000
GRCh37
Deletion
No
chehbani_22_ASD_discovery_cases-case38
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
147295402
147349454
54053
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case328
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case329
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case330
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case331
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case332
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case333
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case334
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case335
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case336
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case337
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case338
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case339
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case340
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case341
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case342
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case343
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case344
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case345
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case346
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case347
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case348
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case349
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case350
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case351
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case352
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case353
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case354
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case355
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case356
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case357
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case358
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case359
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case360
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case361
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case362
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case363
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case364
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case365
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case366
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case367
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case368
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case369
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case370
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case371
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case372
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case373
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case374
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case375
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case376
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case377
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case378
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case379
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case380
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case381
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case382
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case383
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case384
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case385
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case386
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case387
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case388
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case389
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case390
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case391
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case392
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case393
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case394
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case395
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case396
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case397
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case398
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case399
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case400
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case401
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case402
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case403
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case404
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case405
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case406
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case407
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case408
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case390
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
145687795
146046645
358851
GRCh38
Duplication
No
davis_09_ASD_discovery_cases-AU038303
NA
NA
Non-syndromic ASD
Diagnosis: Autism/spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
144940574
146034535
1093961
Unknown
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299915
N/A
F
Developmental delay/intellectual disability
145687796
146021625
333830
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300082
N/A
M
Developmental delay/intellectual disability
145687796
145802744
114949
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300148
N/A
F
Developmental delay/intellectual disability
145687796
146021625
333830
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300197
N/A
F
Developmental delay/intellectual disability
145687796
146021625
333830
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13035_443
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
147365734
147422858
57125
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13135_1523
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145430980
148359881
2928902
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case14088_1520
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145686865
146055345
368481
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14309_4260
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145601946
145813526
211581
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14330_4440
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145645929
145809105
163177
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14398_5070
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145689573
145813526
123954
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16035_1571013001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145430980
148371305
2940326
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case1962_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146788907
147292384
503477
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case20000_1010002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
143509840
144630248
1120409
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20003_1019001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146317915
146828254
510339
NCBI36
Deletion
No
engchuan_15_ASD_discovery_cases-case20013_1075001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
143509840
144630248
1120409
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20022_1110001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
143509840
144630248
1120409
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20028_1134001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
143509840
144630248
1120409
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20110_1510001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145686865
145823638
136774
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20161_1339001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146336720
146608260
271540
NCBI36
Deletion
No
engchuan_15_ASD_discovery_cases-case2198_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
143509840
144630248
1120409
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4020_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145686865
145809105
122241
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4159_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145679086
145813526
134441
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4291_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
144967972
146317915
1349943
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case4403_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145601946
145809105
207160
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5007_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145601946
146046863
444918
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5114_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
144434477
144659645
225168
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case5262_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
148263475
148397943
134469
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5262_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145672100
146114776
442677
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5283_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145663483
145809105
145623
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6150_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145701844
146046863
345020
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6362_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145624561
145813526
188966
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8413_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146386464
146608260
221796
NCBI36
Deletion
No
engchuan_15_ASD_discovery_cases-case8587_210
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146387597
146608260
220663
NCBI36
Deletion
No
engchuan_15_ASD_discovery_cases-case8635_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145430980
148439136
3008157
GRCh38
Deletion
Yes
feliciano_19_ASD_discovery_cases-caseSP0017106
N/A
M
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
145687811
146020232
332422
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0046081
N/A
M
ASD
145687811
146020231
332421
GRCh38
Deletion
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR58
26 yrs.
F
Intellectual disability and epilepsy
Clinical features: severe intellectual disability, scoliosis. Age of seizure onset: <8 years. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: atonic seizures, absence seizures, myoclonic seizures
Severe intellectual disability
145711421
145809105
97685
GRCh38
Duplication
Yes
gai_11_ASD_discovery_cases-AU1163303
Autism
144970465
146293282
1322818
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1163304
Autism
144970465
146293282
1322818
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1610306
Autism
144967972
146293282
1325311
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1688302
Autism
144970465
146293282
1322818
Unknown
Duplication
No
girirajan_11_ASD_discovery_cases-Si128
8
M
Autism
ADOS score: 7. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 83; Non-verbal IQ, 98.
143815333
143965028
149695
NCBI36
Deletion
No
girirajan_11_ASD_discovery_cases-Si162
7
M
Autism
ADOS score: 7. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.
145603130
145809109
205980
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si173
10
M
Autism
ADOS score: 7. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 67; Non-verbal IQ, 82.
143820915
143970710
149795
NCBI36
Deletion
No
girirajan_11_ASD_discovery_cases-Si177
10
M
Autism
ADOS score: 8. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 96; Non-verbal IQ, 75.
143820915
143965028
144113
NCBI36
Deletion
No
girirajan_11_ASD_discovery_cases-Si192
7
M
Autism
ADOS score: 6. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 60; Non-verbal IQ, 94.
147365658
147419395
53738
GRCh38
Homozygous Deletion
No
girirajan_11_ASD_discovery_cases-Si217
10
M
Autism
ADOS score: 7. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 82; Non-verbal IQ, 90.
143529898
143894882
364985
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si23
9
M
Autism
ADOS score: 5. Vineland composite score: 96.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 105; Non-verbal IQ, 110.
143564187
143894882
330696
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si24
14
F
Autism
ADOS score: 10. Vineland composite score: 87.
No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 102; Non-verbal IQ, 74.
143820915
143970710
149795
NCBI36
Deletion
No
girirajan_11_ASD_discovery_cases-Si3
8
M
Autism
ADOS score: 10. Vineland composite score: 110.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 80; Non-verbal IQ, 96.
143820915
143970710
149795
NCBI36
Deletion
No
girirajan_11_ASD_discovery_cases-Si313
13
M
Autism
ADOS score: 8. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 108; Non-verbal IQ, 108.
143820915
143970710
149795
NCBI36
Deletion
No
girirajan_11_ASD_discovery_cases-Si321
8
M
Autism
ADOS score: 10. Vineland composite score: 67.
Moderate mental retardation/intellectual disability. Full-scale IQ, 54; Verbal IQ, 60; Non-verbal IQ, 59.
148804487
148895213
90727
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si48
11
M
Autism
ADOS score: 10. Vineland composite score: 57.
Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 30; Non-verbal IQ, 45.
143529898
143894882
364985
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si66
9
M
Autism
ADOS score: 7. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 50; Non-verbal IQ, 59.
143564187
143894882
330696
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si79
16
M
Autism
ADOS score: 8. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 77; Non-verbal IQ, 83.
143564187
143894882
330696
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si85
13
M
Autism
ADOS score: 9. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 81; Non-verbal IQ, 101.
147365658
147419395
53738
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si95
8
M
Autism
ADOS score: 5. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 98; Non-verbal IQ, 112.
143820915
143965028
144113
NCBI36
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case0078
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0079
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0080
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0081
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0082
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0083
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0084
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0085
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0086
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0087
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0088
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0089
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0090
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0091
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0092
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0093
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0094
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0095
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0096
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0097
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0098
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0099
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0100
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0101
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0102
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0103
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0104
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0105
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0106
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0107
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0108
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0109
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0110
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0111
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0112
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0113
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0114
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0115
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0116
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0117
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0118
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0119
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0120
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0121
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0122
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0123
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0124
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0125
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0126
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0127
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0128
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0129
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0130
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0131
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0132
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0133
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0134
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0135
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0136
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0137
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0138
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0139
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0140
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0141
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0142
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0143
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0144
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0145
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0146
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0147
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0148
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0149
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0150
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0151
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0152
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0153
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0154
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0155
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0156
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0157
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0158
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0159
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0160
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0161
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0162
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0163
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0164
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0165
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0166
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0167
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0168
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0169
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0170
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0171
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0172
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0173
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0174
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0175
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0176
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0177
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0178
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0179
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0180
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0181
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0182
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0183
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0184
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0185
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0186
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0187
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0188
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0189
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0190
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0191
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0192
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0193
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0194
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0195
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0196
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0197
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0198
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0199
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0200
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0201
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0202
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0203
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0204
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0205
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0206
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0207
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0208
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0209
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0210
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0211
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0212
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0213
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0214
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0215
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0216
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0217
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0218
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0219
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0220
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0221
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0222
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0223
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0224
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0225
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0226
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0227
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0228
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0229
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0230
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0231
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0232
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0233
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0234
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0235
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0236
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0237
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0238
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0239
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0240
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0241
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0242
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0243
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0244
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0245
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0246
NA
NA
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case20880
NA
NA
Developmental delay
Failure to thrive
NA
147101794
147921262
819469
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case24219
2 yrs. 8 mos.
F
Developmental delay
Severe speech delays. Hypotonia. Febrile seizure. Unilateral hearing loss. High pain tolerance. Dysmorphic features: bilateral ptosis. Congenital anomalies: Duane syndrome, patent ductus arteriosus. Other features: hemihypertrophy, chronic low-grade fevers. Growth parameters: weight >99th %ile, height 61st %ile, OFC 50th %ile. Family history: father has ADHD, congenital cataracts, chronic fevers, and speech delay.
Developmental delay
147101794
147921262
819469
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
147101794
147921262
819469
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case27875
4 yrs.
M
Developmental delay
Mild motor and speech delays, normal tone, unilateral hearing loss. Dysmorphic features: ptosis, small ears. Congenital anomalies: hydronephrosis, undescended testicle, inguinal hernia. Other features: strabismus. Growth parameters: weight 90th-97th %ile, height 97th %ile, OFC -1 SD. Family history: father had congenital heart defect. Karyotype: 47, XYY.
Developmental delay
147101794
147921262
819469
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case35416
4 yrs. 8 mos.
M
Developmental delay
Motor and speech delays, hypotonia. Dysmorphic features: prominent ear inner helix, prominent knees. Congenital anomalies: ventricular septal defect (VSD). Growth parameters: weight 3rd %ile, height 50th %ile, OFC -3.2 SD. Family history: father has similar ears.
Developmental delay
147101794
147921262
819469
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case36479
10 yrs.
M
Developmental delay
Motor delay, poor speech, aggression. Normal tone. Dysmorphic features: midface hypoplasia, epicanthal folds, allergic shiners, Down syndrome-like features. Congenital anomalies: hypoplastic patellae, posterior iliac horns. Other features: strabismus. Growth parameters: weight <3rd %ile, height 5th %ile, normal OFC. Family history: mother has nail patella syndrome and intellectual disability (ID). Patient previously reported in Rosenfeld et al., 2012.
Developmental delay
147101794
147921262
819469
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case46609
NA
M
Developmental delay
NA
NA
147101794
147921262
819469
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case49557
NA
NA
Developmental delay
Feeding difficulty
NA
147101794
147921262
819469
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case60918
NA
NA
Developmental delay
Central nervous system disorder
Mental retardation
147101794
147921262
819469
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case67345
8 yrs.
M
Developmental delay
Mixed developmental disorder, microcephalus, failure to thrive. Speech delay, ADHD, some sensory issues. Normal tone. Dysmorphic features: bitemporal narrowing, thin nose, epicanthal folds, rotated ears, absent antitragus, small philtrum, high palate. Other features: hypothyroidism, rectal prolapsed. Growth parameters: weight 10th %ile, height 25th-50th %ile, OFC -2.7 SD. Family history: mother has mitral valve prolapse.
IQ 90
147101794
147921262
819469
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case69470
NA
NA
Developmental delay
Delayed developmental milestones
Developmental delay
147101794
147921262
819469
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case73180
NA
NA
Developmental delay
Dysmorphic features
Developmental delay
147101794
147921262
819469
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-11712.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
147364446
147415879
51434
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12265.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
144825000
146075000
1250000
NCBI36
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12345.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
147364446
147415879
51434
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12420.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
144825000
146075000
1250000
NCBI36
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12719.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
147244119
147504070
259952
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12891.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
144825000
146075000
1250000
NCBI36
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12907.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
144825000
146075000
1250000
NCBI36
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13507.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
144825000
146075000
1250000
NCBI36
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13975.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
144825000
146075000
1250000
NCBI36
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14181.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
145816365
146043255
226891
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14473.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
144825000
146075000
1250000
NCBI36
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU3144302
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
144825000
146075000
1250000
NCBI36
Duplication
Yes
girirajan_13a_DD_discovery_cases-DDcase1
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase10
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase11
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase12
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase13
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase14
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase15
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase16
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase17
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase18
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase19
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase2
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase20
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase21
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase22
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase23
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase24
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase25
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase26
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase27
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase28
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase29
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase3
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase30
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase31
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase32
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase33
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase34
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase35
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase36
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase37
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase38
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase39
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase4
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase40
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase41
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase42
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase43
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase44
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase45
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase46
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase47
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase48
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase49
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase5
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase50
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase51
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase52
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase53
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase54
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase55
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase56
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase57
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase58
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase59
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase6
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase60
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase61
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase62
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase63
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase64
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase65
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase66
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase67
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase68
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase69
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase7
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase70
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase71
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase72
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase73
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase74
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase75
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase76
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase77
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase78
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase79
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase8
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase80
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase81
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase82
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase83
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase84
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase85
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase86
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase87
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase88
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase89
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase9
N/A
N/A
Developmental delay
N/A
N/A
145816365
146043255
226891
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase90
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase91
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase92
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase93
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase94
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase95
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase96
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase97
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase98
N/A
N/A
Developmental delay
N/A
N/A
144825000
146075000
1250000
NCBI36
Duplication
No
girirajan_13b_ASD_discovery_cases-10609111027
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
145603130
145804587
201458
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-15008109638
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
148804487
148894914
90428
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-21908109957
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
143829534
143970710
141176
NCBI36
Deletion
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
143564187
143894882
330696
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-30708110281
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
143529898
143894882
364985
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-40906106831
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
143529898
143894882
364985
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-47609111962
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
143529898
143894882
364985
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-55104100200
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
148804487
148885575
81089
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-60704102209
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
143564187
143894882
330696
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-607107598
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
145604295
146057829
453535
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-607107598
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
143665017
144529218
864201
NCBI36
Deletion
Yes
girirajan_13b_ASD_discovery_cases-9005102681
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
145603130
145809109
205980
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-9805103469
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
148814429
148959446
145018
GRCh38
Duplication
No
griswold_12_ASD_discovery_cases-case17331
NA
NA
ASD/autism
NA
NA
147032152
147924683
892532
GRCh38
Duplication
Yes
griswold_12_ASD_discovery_cases-case7804
NA
NA
ASD/autism
NA
NA
147032152
147924683
892532
GRCh38
Duplication
Yes
handrigan_13_ASD/DD/ID_discovery_cases-patient8
9 yrs.
F
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay), speech delay, social awkardness. Urological abnormalities: none reported. Other features: macrocephaly, small ears, high-arched palate, hypertelorism, maxillary hypoplasia. Growth parameters: overgrowth for both weight and height.
145430980
148436984
3006005
GRCh38
Duplication
No
itsara_10_ASD_discovery_cases-HI3079
NA
NA
Autism
NA
NA
145013719
146293282
1279563
NCBI36
Deletion
Yes
itsara_10_ASD_discovery_cases-HI3745
NA
NA
Autism
NA
NA
145689573
145809105
119533
GRCh38
Duplication
Yes
kalsner_17_ASD_discovery_cases-case2
N/A
N/A
ASD
Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2. Note: CNV coordinates and CNV gene content are more consistent with an 800 kb duplication in the 1q21.1 locus, rather than a 1.8 Mb duplication in the 1q21.1-q21.2 locus.
146016536
146883784
800000
GRCh37
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000021
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000038
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
147307637
147966044
658407
NCBI36
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000245
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
144854546
147966044
3111498
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000454
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
147134175
147966044
831869
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000458
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145215697
149078153
3862457
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000602
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
147307637
147966044
658407
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000753
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
147756734
147776466
19733
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000775
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
147307637
147966044
658407
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000868
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145215697
149078153
3862457
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000913
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
146987841
148191100
1203260
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000955
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145635445
146009630
374186
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000989
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
147756734
147776466
19733
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001019
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001091
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145215697
149078153
3862457
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001194
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001227
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001276
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001286
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001287
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145635445
146009630
374186
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001612
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145601946
145804778
202833
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001616
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145601946
146944906
1342961
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001617
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145215697
148492647
3276951
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001640
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148371305
2940326
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001647
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145696791
146133507
436717
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001889
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145625047
146021303
396257
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002017
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148328747
2897768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002019
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145215697
149078153
3862457
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002072
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148444397
3013418
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002098
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145601946
145807381
205436
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002168
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148246178
2815199
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002206
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148328747
2897768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002245
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148328747
2897768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002254
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145688094
145788062
99969
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002257
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145688094
146046645
358552
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002270
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145688094
146046645
358552
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002273
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
146987841
148191100
1203260
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002422
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148328747
2897768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002426
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148328747
2897768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002450
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148328747
2897768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002455
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145601946
146146477
544532
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002456
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
142438268
147018892
4580624
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002460
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145215697
149078153
3862457
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002501
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145601946
146046645
444700
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002520
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145609216
146046645
437430
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002625
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
144967596
146178437
1210841
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002696
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145635445
146046645
411201
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002715
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
144967596
146281439
1313843
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002734
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
149343657
3912678
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002740
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145037928
146212234
1174306
NCBI36
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002740
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145635445
146046645
411201
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002786
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145635445
145968427
332983
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003780
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148437125
3006146
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003819
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145635445
146009630
374186
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003826
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003843
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003851
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145601946
146127929
525984
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003858
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148328747
2897768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003896
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
142513049
147499105
4986056
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003902
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003940
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145031367
146201635
1170268
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003944
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148444397
3013418
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004010
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148287692
2856713
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004052
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004059
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
144993975
146267496
1273521
NCBI36
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004071
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004074
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004104
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004141
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145694408
145802744
108337
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004160
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145601946
146944906
1342961
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004231
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148437125
3006146
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004240
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145031367
146201635
1170268
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004244
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148437125
3006146
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004244
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145705541
146009831
304291
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004271
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148437125
3006146
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004274
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148437125
3006146
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004280
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145037928
146375718
1337790
NCBI36
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004281
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
142438161
144837799
2399638
NCBI36
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004367
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145833599
146009630
176032
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004368
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
143456705
145325112
1868407
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004384
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145215697
149078153
3862457
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004400
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004431
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145215697
148572921
3357225
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004432
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004464
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148437125
3006146
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004493
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145601946
146009630
407685
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004503
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004518
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145601946
146009630
407685
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004557
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145031367
146201635
1170268
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004575
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004611
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004624
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148328747
2897768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004677
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004685
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145215697
149078153
3862457
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004694
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145215697
149078153
3862457
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004723
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436925
3005946
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004761
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
143509840
149078153
5568314
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004765
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148437125
3006146
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004770
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145635445
146009630
374186
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004780
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145601946
145807381
205436
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004799
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148328747
2897768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004812
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148492647
3061668
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004851
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145694408
145802744
108337
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004862
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004889
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145215697
149078153
3862457
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004908
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145635445
146009630
374186
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004917
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004945
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005010
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145694408
145802744
108337
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005027
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145031367
146201635
1170268
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005066
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145215697
149078153
3862457
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005074
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
144625595
149078153
4452559
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005100
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145031367
146201635
1170268
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005117
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148328747
2897768
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005125
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005133
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145215697
149078153
3862457
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005178
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148437125
3006146
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005190
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148436984
3006005
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005307
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
144625595
149078153
4452559
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005312
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145430980
148328747
2897768
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005408
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
144974142
146375718
1401576
NCBI36
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00011133
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145833599
146009630
176032
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00012448
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145635445
145968427
332983
GRCh38
Duplication
Yes
kousoulidou_13_ASD_discovery_cases-patient8
N/A
M
ASD
High-functioning ASD. Normal speech, socially isolated from peers, exhibits stereotyped hand movements, reduced facial expressivity, emotional withdrawal, echolalia, psychomotor hyperactivity, and narrow interests. Family history: mother suffers from depression after being disabled due to an accident.
145215697
149078153
3862457
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12719.p1
N/A
M
ASD
ASD proband from SSC quad family 12719. SRS score of 90.
Full-scale IQ (FSIQ) score of 46.
147243844
147295509
51666
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case14181.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
145601946
146020232
418287
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ0194
50 yrs.
F
Schizophrenia, ID
Behavioral/psychiatric evaluation: onset of schizophrenia at 29 years of age (core symptoms include delusions, hallucinations). Brain imaging: mild frontal atrophy on brain CT. Physical comorbidities: uterine fibroids. Family history: negative.
Mild intellectual disability
145430995
148427734
2996740
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0242
66 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 37 years of age (core symptoms include delusions, hallucinations, self-injury, cognitive decline). Brain imaging: frontotemporal atrophy and ischemic white matter change on brain CT. Family history: negative.
IQ > 70
145601945
146048346
446402
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0288
74 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 23 years of age (core symptoms include persecutory delusions, disorganized thoughts, disinhibited behavior, avolition, blunted affect). Physical comorbidities: pneumonia, gastrointestinal bleeding. Family history: negative.
IQ > 70
145430995
148427734
2996740
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0503
49 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 41 years of age (core symptoms include auditory hallucinations, persecutory and referential delusions), mood symptoms. Physical comorbidities: scapulohumeral periarthritis, knee osteoarthritis, cubital tunnel syndrome. Family history: negative.
IQ > 70
145430995
148427734
2996740
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0690
36 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 26 years of age (core symptoms include auditory hallucinations, persecutory delusions, impulsivity, agitated and violent behavior, negative symptoms), unusual behaviors. Brain imaging: periventricular high intensity area on T2-weighted images on brain MRI. Physical comorbidities: asthma, emphysema. Congenital and developmental phenotypes: low birth weight. Family history: negative.
IQ > 70
145601945
146041785
439841
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0952
47 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 16 years of age (core symptoms include delusions, hallucinations, agitation). Family history: negative.
IQ > 70
145430995
148427734
2996740
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1194
67 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 23 years of age (core symptoms include hallucinations, delusions, thought disorders, manic symptoms, negative symptoms, cognitive decline), mood symptoms. Brain imaging: mild diffuse atrophy and bilateral basal ganglia calcification on brain CT. Congenital and developmental phenotypes: probable ID, arrested on a charge of larceny. Family history: negative.
Probable intellectual disability (IQ < 70)
145601945
146048346
446402
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1792
54 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
145580669
149095000
3514332
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2104
39 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
145430995
148257619
2826625
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2447
33 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
145601945
146049618
447674
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2563
42 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
145601945
148889374
3287430
GRCh38
Duplication
N/A
kushima_22_BPD_discovery_cases-caseBD0653
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
145652077
146049619
397543
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0242
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
145601945
146048347
446403
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1194
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
145601945
146048347
446403
GRCh38
Deletion
Yes
leite_22_DD/ID_discovery_cases-case029
4 yrs.
F
Developmental delay
Global developmental delay
145648774
146052881
404108
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11207.p1
NA
M
ASD
NA
NA
143542853
143964413
421561
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
15 yrs.
M
ASD and ID
Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.
Intellectual disability
144337594
144764828
427235
NCBI36
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case75
3 yrs.
M
ASD and language delay
Birth history: born at 37 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: ASD. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Dysmorphic features: prominent forehead, everted lower eyelid. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Normal (no intellectual disability or learning disorder)
145687796
145802744
114949
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown95
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)
145687796
145802744
114949
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530898
F
Developmental delay
Global developmental delay (HP:0001263), abnormal cardiovascular system morphology (HP:0030680), microcephaly (HP:0000252)
145184588
146184587
1000000
GRCh38
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530901
F
MCA
Abnormal facial shape (HP:0001999)
145534588
146234587
700000
GRCh38
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530905
M
Developmental delay
Global developmental delay (HP:0001263), abnormal facial shape (HP:0001999)
145584588
146034587
450000
GRCh38
Duplication
No
miclea_22_DD/ID_discovery_cases-case165
NA
NA
Developmental delay and intellectual disability
Global developmental delay, epilepsy, dysmorphic features, forearm agenesis
Intellectual disability
145679248
146040040
360793
GRCh38
Deletion
No
monteiro_19_ASD_discovery_cases_case27
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)
147071299
147156600
85302
GRCh38
Deletion
No
monteiro_19_ASD_discovery_cases_case30
N/A
M
ASD and developmental delay
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: developmental delay. Dysmorphic features: present. Growth parameters: macrocephaly.
145602010
146046645
444636
GRCh38
Deletion
No
morrow_08_ASD_discovery_cases-case6301
NA
ASD
NA
NA
145820000
146035000
215000
Unknown
Duplication
No
mosca_16_DCD_discovery_cases-case114303
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis DCD; paternal diagnosis reading disorder; sibling diagnosis DCD (sibling DNA not available).
145625979
146089254
463276
GRCh37
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-2375
N/A
M
Dysmorphic features
Database: DECIPHER. Indication for study: Club foot, varus, down-turned corners of the mouth, epicanthic folds, microcephaly, reduction deformity of arms and legs (no digits), thin upper lip.
145078202
146482713
1404511
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-248905
N/A
U
Dysmorphic features
Database: DECIPHER. Indication for study: Abdomen, clinodactyly, ear helix, flat face, high frontal hairline, hypertelorism, hypohidrotic, loose skin in neck, palpehral fissures slant down, tapering fingers
145741704
145955868
214165
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249001
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Agenesis/hypoplasia of corpus callosum, asymmetric face, brachycephaly, broad halux, craniosynostosis, cupid bow shape of mouth, dysplastic ears, flat occiput, hypospadias, joint contractures, mandible, intellectual disability/developmental delay, microcephaly, microstomia, palperbral fissures slant down, plagiocephaly/asymmetrical skull, prominent ear helix, ptosis of eyelids, short neck and toes.
Developmental delay/intellectual disability
145741704
145955868
214165
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249131
N/A
M
Dysmorphic features
Database: DECIPHER. Indication for study: Split/cleft hand/ectrodactyly
145601946
146052638
450693
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249154
N/A
M
Intellectual disability
Database: DECIPHER. Indication for study: Austism, cryptorchid testes, intellectual disability, speech delay, tricuspid stenosis
Intellectual disability
145635445
146046645
411201
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250731
N/A
M
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Macrocephaly, intellectual disability/developmental delay, oedema, prominent forefead, small ears, truncal obesity, uplift of ear lobule, wide nasal bridge
Developmental delay/intellectual disability
145741704
145955868
214165
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-252458
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
145687796
146021625
333830
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-254020
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
145687796
146021625
333830
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-255784
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
145687796
146021625
333830
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-255915
N/A
M
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Hyperactivity, intellectual disability/developmental delay, ptosis of eyelids
Developmental delay/intellectual disability
145602039
145988708
386670
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256532
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Cleft palate, cleft upper lip (non-midline), intellectual disability/developmental delay
Developmental delay/intellectual disability
145705734
146019857
314124
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256998
N/A
F
Developmental delay/intellectual disability and epilepsy
Database: DECIPHER. Indication for study: intellectual disability/developmental delay, neuroradiology, tonic/clonic (grand-mal)
Developmental delay/intellectual disability
144643813
146826111
2182298
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-257093
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
145687796
146021625
333830
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-258316
N/A
M
Autism and DD/ID
Database: DECIPHER. Indication for study: Autism, intellectual disability/developmental delay, speech delay
Developmental delay/intellectual disability
145602010
146046645
444636
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-258860
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Macrocephaly, intellectual disability/developmental delay
Developmental delay/intellectual disability
145125198
145747414
622216
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260137
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
145825941
146021625
195685
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260556
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
144927778
145747269
819491
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260565
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
145687796
146021625
333830
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260577
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
145878398
146146464
268067
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC35373
N/A
F
Possible TAR syndrome
Database: Signature. Indication for study: Possible TAR Syndrome
144124744
144398381
273637
GRCh37
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC46609
N/A
M
MCA
Database: Signature. Indication for study: Abnormal ultrasound, Abnormal karyotype, Cystic hygroma, Multiple fetal anomalies, mosaic der(13)
144111146
145854345
1743199
GRCh37
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient10
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient100
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient101
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient102
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient103
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient104
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient105
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient106
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient107
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient108
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient109
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient11
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient110
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient111
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient112
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient113
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient114
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient115
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient116
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient117
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient118
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient119
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient12
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient120
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient121
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient122
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient13
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient14
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient15
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient16
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient17
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient18
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient19
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient20
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient21
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient22
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient23
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient24
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient25
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient26
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient27
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient28
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient29
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient30
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient31
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient32
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient33
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient34
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient35
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient36
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient37
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient38
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient39
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient40
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient41
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient42
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient43
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient44
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient45
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient46
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient47
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient48
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient49
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient5
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient50
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient51
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient52
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient53
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient54
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient55
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient56
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient57
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient58
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient59
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient6
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient60
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient61
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient62
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient63
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient64
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient65
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient66
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient67
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient68
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient69
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient7
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient70
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient71
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient72
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient73
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient74
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient75
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient76
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient77
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient78
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient79
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient8
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient80
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient81
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient82
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient83
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient84
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient85
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient86
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient87
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient88
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient89
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient9
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient90
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient91
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient92
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient93
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient94
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient95
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient96
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient97
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient98
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient99
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
pfundt_16_NDD_discovery_cases-case116
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: 1q21.1 susceptibility locus
145299729
146496484
1196755
GRCh37
Duplication
No
pfundt_16_NDD_discovery_cases-case42
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: PEX11B deletion
145112372
145816741
704369
GRCh37
Deletion
No
pinto_10_ASD_discovery_cases-case13135_1523
NA
F
Autism
Normal physical exam, no epilepsy; 1q21.1 microduplication syndrome
Low average IQ
145430980
148359881
2928902
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5007_3
NA
M
Autism
Anxiety, language delay, no epilepsy, no dysmorphic features
Below average IQ
145601946
146046863
444918
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5262_4
NA
M
Autism
Anxiety symptoms, below average language (<1%ile), cleft palate, congenital diaphragmatic hernia, epilepsy, recurrent ear infections, short stature, alopecia in left parietal area, hypertelorism, epicanthic folds, small ears with curved pinnae, smooth philtrum, 5th finger clinodactyly, hyperextensibility, scoliosis; 16p11.2 microdeletion syndrome
Below average nonverbal IQ (4%ile)
148263475
148397943
134469
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5262_4
NA
M
Autism
Anxiety symptoms, below average language (<1%ile), cleft palate, congenital diaphragmatic hernia, epilepsy, recurrent ear infections, short stature, alopecia in left parietal area, hypertelorism, epicanthic folds, small ears with curved pinnae, smooth philtrum, 5th finger clinodactyly, hyperextensibility, scoliosis; 16p11.2 microdeletion syndrome
Below average nonverbal IQ (4%ile)
145672100
146114776
442677
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case16035_1571013001
N/A
M
ASD
Autism (ADI-R ASD, ADOS autism), language delay (first words 48 mo, first phrases 66 mo), echolalic, functionally non-verbal, normal vision and hearing, no dysmorphic features reported, no seizures. Family history: both parents unaffected, brother with Asperger syndrome (not tested).
Mild ID (Leiter at 14 y 11 mo: PIQ 68)
145430980
148371305
2940326
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case4291_1
N/A
M
ASD
Autism (based on ADI-R), nonverbal after language regression at 33 mo, aggression; nuchal cord x3 and slow labor with fetal distress; multiple caf-au-lait spots <5 cm, raised moles on scalp. Family history: affected sibling (CNV not present); mother with multiple caf-au-lait spots; father with Hashimoto's thyroiditis.
Cognitive profile: N/A.
144967972
146317915
1349944
NCBI36
Duplication
Yes
pinto_14_ASD_discovery_cases2-case8635_201
17 yrs.
M
ASD
Autism on ADI-R and ADOS, comorbid OCD and ADHD; chronic ear infections; physical exam at 17 y, overweight (+4.7 SD, BMI 33.7), normal height, head circumference 1.5 SD, no epilepsy. Family history: father with seizures in infancy, mother healthy; 1 sister with epilepsy and unilateral deafness and 1 healthy sister (both not tested); maternal cousin with autism.
VIQ 93, PIQ 75, FSIQ 83
145430980
148439136
3008157
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1404A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU070705; NDAR ID NDAR_INVZD470AGN)
145608132
145788968
180837
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case01HI2158A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU079304; NDAR ID NDAR_INVYP365XV9)
148929195
149027629
98435
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case03HI2530A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0917302; NDAR ID NDAR_INVGV844EAQ)
145608132
145788968
180837
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI4548A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1549303; NDAR ID NDAR_INVVJ971KMF)
145738484
145907467
168984
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI4548A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1549303; NDAR ID NDAR_INVVJ971KMF)
145112373
145456725
344353
GRCh37
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0089B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU018304; NDAR ID NDAR_INVPR057PE3)
144855738
145115889
260152
GRCh37
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0765
N/A
F
ASD
ASD case from AGRE (AGRE ID AU054805; NDAR ID NDAR_INVHV388WC3)
145608132
145788968
180837
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0802A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055504; NDAR ID NDAR_INVXM069XZB)
148932111
148953907
21797
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1140A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU062604; NDAR ID NDAR_INVBJ302UPL)
145608132
145788968
180837
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case168169
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
143820620
144003268
182649
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case62798L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
143822673
144003268
180596
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_302
15 yrs.
M
Intellectual disability
Behavioral problems
Mild intellectual disability
145625775
146052881
427107
GRCh38
Duplication
No
rosenfeld_10_ASD_discovery_cases-case20378
NA
NA
ASD
NA
NA
145119362
145761156
641794
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case22428
NA
NA
ASD
NA
NA
144111146
144396898
285752
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case22428
NA
NA
ASD
NA
NA
145119362
145761156
641794
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case22992
NA
NA
ASD
NA
NA
145119362
145761156
641794
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case5753
NA
NA
ASD
NA
NA
144111146
144396898
285752
Unknown
Deletion
Yes
sahoo_11_DD_discovery_cases-patient2
3 yrs. 7 mos.
M
Developmental delay
Developmental milestones: early motor milestones unremarkable, delayed speech and language (first words at 18 mos., early language milestones noticeable delayed at 2.5 yrs.). Substantial deficits in areas of social, fine motor, expressive language, language comprehension, numbers, & general development (Child Development Inventory Profile/CDIP). Behavioral problems: withdrawn, unresponsive to affection, averse to new situations, abnormal behaviors such as hand clapping. Dysmorphic features: none. Growth parameters: height, 98.7 cm (25th %ile); weight, 14.7 kg (10th %ile); head circumference, 48 cm (10th %ile). Family history: two older brothers with a history of speech & language delays.
Pervasive global developmental delay
145688356
146046021
357666
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
148270914
148397943
127030
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
147733635
147903855
170221
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
147492209
147587606
95398
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
146995657
147094757
99101
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11067.p1
11.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 128; verbal IQ, 121
145601946
145720709
118764
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11110.p1
15.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 62; verbal IQ, 32
147624993
147631053
6061
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11543.p1
16.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
147769620
147948006
178387
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11712.p1
5.5
M
ASD
NA
Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
147365734
147429946
64213
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11715.p1
6.6
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 95; verbal IQ, 101
147624993
147631053
6061
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11845.p1
5.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
145601946
145813526
211581
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12264.p1
8
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
145627236
145813526
186291
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12265.p1
6.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 96; verbal IQ, 78
145430980
148492647
3061668
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12345.p1
11.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
147365734
147429946
64213
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12355.p1
4.6
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
145645929
145809105
163177
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12366.p1
4
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97
147624993
147640031
15039
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12420.p1
7.8
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
145430980
148371305
2940326
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12617.p1
10.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
145601946
145809105
207160
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12821.p1
4.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 86
147391631
147410154
18524
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12836.p1
6.8
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
147391631
147410154
18524
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12852.p1
5.1
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 83
147391631
147410154
18524
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12888.p1
5.5
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19
147391631
147410154
18524
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12907.p1
13.8
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 116; verbal IQ, 108
145430980
148371305
2940326
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12955.p1
13.1
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 66; verbal IQ, 67
145601946
145813526
211581
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13041.p1
7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
147391631
147410154
18524
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case86
7 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Dysmorphism
145635445
146019823
384379
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case87
11 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Dysmorphism
145635445
146019823
384379
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
143544813
143883837
339025
GRCh38
Duplication
No
shen_10_ASD_discovery_cases-ASD-09-025
NA
M
PDD-NOS
NA
NA
143528755
143938804
410050
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-026
NA
M
ASD
NA
NA
145694468
145992415
297948
GRCh38
Deletion
No
shin_15_ASD/DD/ID_discovery_cases-case1
1 yr.
M
DD and seizures
Developmental delay, seizures, bilateral pes planovalgus, cleft palate, simian crease on left hand, unilateral cryptorchidism (right side)
145601946
145922537
320592
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR007-D4-8172-111
NA
ASD
NA
NA
143780000
144894000
1114000
NCBI35
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR007-D5-8172-201
NA
ASD
NA
NA
143780000
144894000
1114000
NCBI35
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR007-D6-8172-202
NA
ASD
NA
NA
143780000
144894000
1114000
NCBI35
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR070-D8-HI3079
NA
ASD
NA
NA
143780000
144894000
1114000
NCBI35
Deletion
Yes
tuncay_22_ASD_discovery_cases-caseJC-57-3
NA
M
ASD
Diagnosis of ASD at 2 years. Family history: born to unaffected consanguineous parents of Middle Eastern ancestry.
145665995
146776376
1110382
GRCh37
Deletion
No
tuncay_23_ASD_discovery_cases-caseMCD-032-4
NA
NA
ASD
Case diagnosed with ASD according to ADOS, ADI-R, and DSM-V.
146420618
146476190
55573
GRCh37
Duplication
No
tzetis_12_DD/ID_discovery_cases-case7
F
ASD
Microcephaly, oligodontia, hypothyrodism, low birth weight, urinary reflux, speech delay, ASD,
144972934
147510591
2540000
NCBI36
Deletion
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
143546346
143729371
183026
GRCh38
Deletion
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
145601946
145823420
221475
GRCh38
Deletion
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
143485338
143515297
29960
GRCh38
Deletion
No
van_den_bossche_12_ID_discovery_cases-Sc7161
51
M
ID
Age of onset: 15.
147211052
147802372
591321
GRCh38
Deletion
No
van_den_bossche_12_ID_discovery_cases-Sc7525
54
M
ID and SCZ and ASD
Age of onset: 16. Schizophrenia, ASD, Klinefelter.
147100143
147802372
702230
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_cases-Sc11501
29
F
SCZ
Age of onset: NA.
147100143
147802372
702230
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_cases-Zas9077
42
M
SCZ
Age of onset: 19.
147100143
147802372
702230
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_cases-Zas9802
39
M
SCZ
Age of onset: 19.
147100143
147802372
702230
GRCh38
Deletion
No
wang_10_ASD_discovery_cases-AC0037
31
M
ASD
NA
NA
147004967
147886156
881190
GRCh38
Duplication
No
woodbury-smith_14_ASD_discovery_cases-case7
N/A
M
ASD
Family history: broad autism phenotype (BAP)-defined father.
147350118
147459439
109322
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case34
N/A
N/A
Developmental delay
Primary diagnosis of developmental delay based on DQ scores.
145430980
148359038
2928059
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case34
N/A
N/A
Developmental delay
Primary diagnosis of developmental delay based on DQ scores.
145642988
146062451
419464
GRCh38
Duplication
No
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case2
NA (>13 yrs.)
F
Schizophrenia
NA
NA
145430980
148439136
3008157
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case32
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
144991278
145290292
299015
GRCh37
Duplication
No
yin_16_ASD_discovery_cases-case33
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
144991278
145290292
299015
GRCh37
Duplication
No
yin_16_ASD_discovery_cases-case34
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
145809393
145829794
20402
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case2-0305-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
145687064
146051002
363939
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-0305-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
145687064
146051002
363939
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0747-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
145601946
146058768
456823
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0305-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
145642989
146052880
409892
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0305-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
145625775
146057960
432186
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0380-001
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
145124437
145995881
871445
GRCh37
Duplication
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
bacchelli_20_ASD_discovery_controls-control10123
N/A
F
Control
Control
145669634
146156191
486558
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control44
N/A
N/A
Control
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control45
N/A
N/A
Control
N/A
N/A
145806439
146149534
343096
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control46
N/A
N/A
Control
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control47
N/A
N/A
Control
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control48
N/A
N/A
Control
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control49
N/A
N/A
Control
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control50
N/A
N/A
Control
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control51
N/A
N/A
Control
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control52
N/A
N/A
Control
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control53
N/A
N/A
Control
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control54
N/A
N/A
Control
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control55
N/A
N/A
Control
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control56
N/A
N/A
Control
N/A
N/A
145806439
146149534
343096
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB175984_1007852624
N/A
N/A
Control
No previous psychiatric history
145658467
145813526
155060
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB367211_1007844575
N/A
N/A
Control
No previous psychiatric history
145601946
145809105
207160
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB392747_1007873163
N/A
N/A
Control
No previous psychiatric history
145601946
145813526
211581
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB557049_1007853857
N/A
N/A
Control
No previous psychiatric history
145658467
145813526
155060
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB586615_1007875854
N/A
N/A
Control
No previous psychiatric history
148255115
148397943
142829
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB639462_1007875232
N/A
N/A
Control
No previous psychiatric history
145601946
145813526
211581
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB667482_1007854320
N/A
N/A
Control
No previous psychiatric history
145658467
145813526
155060
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB907712_1007852916
N/A
N/A
Control
No previous psychiatric history
145601946
145809105
207160
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB984152_1007842480
N/A
N/A
Control
No previous psychiatric history
146987841
148191100
1203260
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB984152_1007842480
N/A
N/A
Control
No previous psychiatric history
148289238
148350106
60869
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900065_900065
N/A
N/A
Control
No previous psychiatric history
146006635
146046863
40229
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900102_900102
N/A
N/A
Control
No previous psychiatric history
145672100
145809105
137006
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900156_900156
N/A
N/A
Control
No previous psychiatric history
145601946
145809105
207160
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900243_900243
N/A
N/A
Control
No previous psychiatric history
146386464
146608260
221796
NCBI36
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
N/A
N/A
Control
No previous psychiatric history
146377870
146725700
347830
NCBI36
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900297_900297
N/A
N/A
Control
No previous psychiatric history
146336720
146725700
388980
NCBI36
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
N/A
N/A
Control
No previous psychiatric history
143398568
143525572
127005
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900344_900344
N/A
N/A
Control
No previous psychiatric history
145693801
145809105
115305
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900357_900357
N/A
N/A
Control
No previous psychiatric history
146386464
146725700
339236
NCBI36
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900503_900503
N/A
N/A
Control
No previous psychiatric history
145627236
146046863
419628
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900627_900627
N/A
N/A
Control
No previous psychiatric history
145601946
145809105
207160
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900634_900634
N/A
N/A
Control
No previous psychiatric history
146336720
146828254
491534
NCBI36
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900804_900804
N/A
N/A
Control
No previous psychiatric history
145645929
145813526
167598
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900884_900884
N/A
N/A
Control
No previous psychiatric history
147377422
147455656
78235
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902634_902634
N/A
N/A
Control
No previous psychiatric history
145601946
145822604
220659
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
N/A
N/A
Control
No previous psychiatric history
148255115
148329566
74452
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_141
NA
NA
Control
NA
NA
148796888
148939865
142978
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_162
NA
NA
Control
NA
NA
148793458
148936613
143156
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_170
NA
NA
Control
NA
NA
148796888
148936613
139726
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_179
NA
NA
Control
NA
NA
148793458
148901777
108320
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_182
NA
NA
Control
NA
NA
148895213
148959446
64234
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_184
NA
NA
Control
NA
NA
148804487
148936209
131723
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_196
NA
NA
Control
NA
NA
148795791
148901777
105987
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_200
NA
NA
Control
NA
NA
148793458
148936209
142752
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_214
NA
NA
Control
NA
NA
148804487
148936613
132127
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_215
NA
NA
Control
NA
NA
148795791
148936613
140823
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_279
NA
NA
Control
NA
NA
148894754
148959446
64693
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_301
NA
NA
Control
NA
NA
148793458
148936613
143156
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_306
NA
NA
Control
NA
NA
148793458
148901777
108320
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_307
NA
NA
Control
NA
NA
148894754
148956750
61997
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_controls-control1
NA
NA
Control
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control2
NA
NA
Control
NA
NA
147101794
147921262
819469
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control3
NA
NA
Control
NA
NA
147101794
147921262
819469
GRCh38
Duplication
NA
girirajan_13a_ASD_discovery_controls3-control1
N/A
N/A
Control
N/A
N/A
144825000
146075000
1250000
NCBI36
Unknown
No
girirajan_13a_ASD_discovery_controls3-control2
N/A
N/A
Control
N/A
N/A
144825000
146075000
1250000
NCBI36
Unknown
No
girirajan_13a_ASD_discovery_controls3-control3
N/A
N/A
Control
N/A
N/A
144825000
146075000
1250000
NCBI36
Unknown
No
girirajan_13b_ASD_discovery_controls-1506105511
N/A
N/A
Control
Ethnicity: Hispanic
N/A
148901777
148959446
57670
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-16409111183
N/A
N/A
Control
Ethnicity: Caucasian
N/A
143529898
143894882
364985
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-1707107618
N/A
N/A
Control
Ethnicity: Caucasian
N/A
147377171
147456636
79466
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-20209111301
N/A
N/A
Control
Ethnicity: Caucasian
N/A
143564187
143894882
330696
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-23107108218
N/A
N/A
Control
Ethnicity: Caucasian
N/A
143820915
143970710
149795
NCBI36
Deletion
No
girirajan_13b_ASD_discovery_controls-30706106486
N/A
N/A
Control
Ethnicity: Caucasian
N/A
143564187
143894882
330696
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-44906106952
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
143529898
143894882
364985
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-54305104360
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
143821667
143901240
79573
NCBI36
Deletion
No
girirajan_13b_ASD_discovery_controls-58505104521
N/A
N/A
Control
Ethnicity: Caucasian
N/A
143529898
143894882
364985
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-72204103059
N/A
N/A
Control
Ethnicity: Hispanic
N/A
143808348
143970710
162362
NCBI36
Deletion
No
girirajan_13b_ASD_discovery_controls-8206105715
N/A
N/A
Control
Ethnicity: Caucasian
N/A
145689719
145802320
112602
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0010
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
147105904
147922392
816489
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0011
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
147105904
147922392
816489
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0012
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
147105904
147922392
816489
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0013
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
147105904
147922392
816489
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0014
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
147105904
147922392
816489
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0015
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
147105904
147922392
816489
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0039
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
145601946
146033747
431802
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0040
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
145601946
146033747
431802
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0041
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
145601946
146033747
431802
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0042
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
145601946
146033747
431802
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0043
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
145601946
146033747
431802
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0044
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
145601946
146033747
431802
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0045
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
145601946
146033747
431802
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0046
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
145601946
146033747
431802
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0047
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
145601946
146033747
431802
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0048
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
145601946
146033747
431802
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0049
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
145601946
146033747
431802
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0050
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
145601946
146033747
431802
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_controls-control0051
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
145601946
146033747
431802
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control13215.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13215. SRS score of 51.
145601946
146019735
417790
GRCh38
Deletion
No (not tested)
levy_11_ASD_discovery_controls-11207.s1
NA
F
Control
NA
NA
147768798
147979436
210639
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11207.s1
NA
F
Control
NA
NA
143542853
143964413
421561
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12197.s1
NA
F
Control
NA
NA
145601946
145809109
207164
GRCh38
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control2
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control3
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control4
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
poultney_13_ASD_discovery_controls-control05C43468A
N/A
F
Control
NIMH Control (NIMH ID 22763)
148809307
148953907
144601
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C45836
N/A
M
Control
NIMH Control (NIMH ID 26071)
144994589
145115889
121301
GRCh37
Deletion
No
sanders_11_ASD_discovery_controls-11067.s1
16.7
F
Control (matched sibling)
NA
NA
145601946
145711946
110001
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11543.s1
18.1
F
Control (matched sibling)
NA
NA
147769620
147924683
155064
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12197.s1
5.8
F
Control (matched sibling)
NA
NA
145601946
145809105
207160
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12345.s1
12.9
F
Control (matched sibling)
NA
NA
147365734
147429946
64213
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12617.s1
14.6
M
Control (matched sibling)
NA
NA
145663483
145804609
141127
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12785.s1
16.8
F
Control (matched sibling)
NA
NA
147041343
147063850
22508
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12852.s1
6.3
M
Control (matched sibling)
NA
NA
147391631
147410154
18524
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_controls-Bas1325
27
M
Control
147100143
147802372
702230
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_controls-Berk2056
46
M
Control
Congenital ventral septal defect, frequent infectious diseases
144942621
147274486
2332000
GRCh37
Deletion
No
van_den_bossche_12_ID_discovery_controls-Bas1325
27
M
Control
147100143
147802372
702230
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_controls-Berk2056
46
M
Control
Congenital ventral septal defect, frequent infectious diseases
144942621
147274486
2332000
GRCh37
Deletion
No
van_den_bossche_12_MDD_discovery_controls-Bas1325
27
M
Control
147100143
147802372
702230
GRCh38
Duplication
No
van_den_bossche_12_MDD_discovery_controls-Berk2056
46
M
Control
Congenital ventral septal defect, frequent infectious diseases
144942621
147274486
2332000
GRCh37
Deletion
No
van_den_bossche_12_SCZ_discovery_controls-Bas1325
27
M
Control
147100143
147802372
702230
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_controls-Berk2056
46
M
Control
Congenital ventral septal defect, frequent infectious diseases
144942621
147274486
2332000
GRCh37
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
battaglia_13_DD/ID/ASD_discovery_cases-case31
FISH or qPCR
De novo
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF24,NBPF11,NBPF10
bourgois_23_ASD/ADHD/DD_discovery_cases-case15
RT-qPCR
Maternal
RNF115,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,ANKRD34A,PDZK1,MIR6736,LIX1L-AS1,PEX11B,ITGA10,RBM8A,POLR3C,PIAS3,CD160,TXNIP
bourgois_23_ASD/ADHD/DD_discovery_cases-case23
RT-qPCR
Paternal
RNF115,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,ANKRD34A,PDZK1,MIR6736,LIX1L-AS1,PEX11B,ITGA10,RBM8A,POLR3C,PIAS3,CD160,TXNIP
bourgois_23_ASD/ADHD/DD_discovery_cases-case25
RT-qPCR
Maternal
Simplex
RNF115,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,ANKRD34A,PDZK1,MIR6736,LIX1L-AS1,PEX11B,ITGA10,RBM8A,POLR3C,PIAS3,CD160,TXNIP
bourgois_23_ASD/ADHD/DD_discovery_cases-case4
RT-qPCR
Paternal
RNVU1-7,RNF115,POLR3GL,GNRHR2,LIX1L,NBPF12,ANKRD35,NBPF11,NUDT17,ANKRD34A,NBPF13P,GPR89A,PDZK1P1,HYDIN2,PFN1P8,RNVU1-8,PDZK1,RNA5SP57,ITGA10,PEX11B,RBM8A,PIAS3,CD160,TXNIP,POLR3C
bourgois_23_ASD/ADHD/DD_discovery_cases-case8
RT-qPCR
Paternal
Simplex
RNF115,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,ANKRD34A,PDZK1,MIR6736,LIX1L-AS1,PEX11B,ITGA10,RBM8A,POLR3C,PIAS3,CD160,TXNIP
bourgois_23_ASD/ADHD/DD_discovery_cases-case9
RT-qPCR
Paternal
POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,ANKRD34A,MIR6736,LIX1L-AS1,PEX11B,ITGA10,RBM8A,POLR3C,PIAS3,TXNIP
ceylan_18_DD/ID_discovery_cases-case3
De novo
POLR3C,CD160,PDZK1,GPR89A,WI2-925H4.1,GPR89C,PDZK1P1,RNU1-137P,RP11-94I2.4,RNVU1-7,RP11-94I2.1,NBPF11,WI2-3658N16.1,PFN1P5,ABHD17AP2,RP4-565E6.1,RNA5SP57,HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P
ceylan_19_DD/ID_discovery_cases-case7
De novo
Simplex
Segregated
POLR3C,CD160,PDZK1,GPR89A,WI2-925H4.1,GPR89C,PDZK1P1,RNU1-137P,RP11-94I2.4,RNVU1-7,RP11-94I2.1,NBPF11,WI2-3658N16.1,PFN1P5,ABHD17AP2,RP4-565E6.1,RNA5SP57,HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P
chehbani_22_ASD_discovery_cases-case38
Unknown
Simplex
LINC00624,CHD1L
coe_14_ASD/DD/ID_discovery_cases-case328
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case329
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case330
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case331
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case332
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case333
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case334
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case335
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case336
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case337
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case338
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case339
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case340
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case341
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case342
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case343
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case344
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case345
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case346
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case347
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case348
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case349
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case350
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case351
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case352
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case353
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case354
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case355
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case356
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case357
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case358
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case359
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case360
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case361
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case362
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case363
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case364
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case365
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case366
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case367
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case368
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case369
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case370
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case371
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case372
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case373
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case374
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case375
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case376
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case377
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case378
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case379
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case380
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case381
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case382
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case383
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case384
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case385
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case386
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case387
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case388
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case389
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case390
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case391
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case392
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case393
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case394
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case395
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case396
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case397
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case398
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case399
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case400
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case401
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case402
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case403
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case404
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case405
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case406
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case407
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_cases-case408
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
cucinotta_23_ASD_discovery_cases-case390
Paternal
RNF115,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,ANKRD34A,PDZK1,MIR6736,LIX1L-AS1,PEX11B,ITGA10,RBM8A,POLR3C,PIAS3,CD160,TXNIP
davis_09_ASD_discovery_cases-AU038303
Unknown
Multiplex
Unknown
NBPF10, NBPF1
digregorio_17_DD/ID_discovery_cases-DECIPHER_299915
qPCR
Maternal
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
digregorio_17_DD/ID_discovery_cases-DECIPHER_300082
Unknown
PDZK1,CD160,RNF115
digregorio_17_DD/ID_discovery_cases-DECIPHER_300148
qPCR
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
digregorio_17_DD/ID_discovery_cases-DECIPHER_300197
qPCR
Maternal
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
engchuan_15_ASD_discovery_cases-case13035_443
Unknown
OR13Z1P,LINC00624
engchuan_15_ASD_discovery_cases-case13135_1523
De novo
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
engchuan_15_ASD_discovery_cases-case14088_1520
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
engchuan_15_ASD_discovery_cases-case14309_4260
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_cases-case14330_4440
Unknown
PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_cases-case14398_5070
Unknown
PDZK1,CD160,RNF115
engchuan_15_ASD_discovery_cases-case16035_1571013001
De novo
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
engchuan_15_ASD_discovery_cases-case1962_301
Unknown
LOC645166;NBPF15;NBPF16;PPIAL4E
engchuan_15_ASD_discovery_cases-case20000_1010002
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,HIST2H3PS2,RPL22P5,IGKV1OR1-1,RNA5SP529,PPIAL4E,RNVU1-15,PFN1P6,PPIAL4F,NBPF17P,HIST2H2BB,FAM72C,DRD5P2,LINC01632,SRGAP2D,NBPF15
engchuan_15_ASD_discovery_cases-case20003_1019001
Unknown
FLJ39739;LOC100130000;NBPF14;NBPF15;PPIAL4A;PPIAL4D;PPIAL4E;PPIAL4F
engchuan_15_ASD_discovery_cases-case20013_1075001
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,HIST2H3PS2,RPL22P5,IGKV1OR1-1,RNA5SP529,PPIAL4E,RNVU1-15,PFN1P6,PPIAL4F,NBPF17P,HIST2H2BB,FAM72C,DRD5P2,LINC01632,SRGAP2D,NBPF15
engchuan_15_ASD_discovery_cases-case20022_1110001
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,HIST2H3PS2,RPL22P5,IGKV1OR1-1,RNA5SP529,PPIAL4E,RNVU1-15,PFN1P6,PPIAL4F,NBPF17P,HIST2H2BB,FAM72C,DRD5P2,LINC01632,SRGAP2D,NBPF15
engchuan_15_ASD_discovery_cases-case20028_1134001
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,HIST2H3PS2,RPL22P5,IGKV1OR1-1,RNA5SP529,PPIAL4E,RNVU1-15,PFN1P6,PPIAL4F,NBPF17P,HIST2H2BB,FAM72C,DRD5P2,LINC01632,SRGAP2D,NBPF15
engchuan_15_ASD_discovery_cases-case20110_1510001
Unknown
PDZK1,CD160,RNF115
engchuan_15_ASD_discovery_cases-case20161_1339001
Unknown
FLJ39739;LOC100130000;NBPF14;PPIAL4A;PPIAL4D;PPIAL4E;PPIAL4F
engchuan_15_ASD_discovery_cases-case2198_1
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,HIST2H3PS2,RPL22P5,IGKV1OR1-1,RNA5SP529,PPIAL4E,RNVU1-15,PFN1P6,PPIAL4F,NBPF17P,HIST2H2BB,FAM72C,DRD5P2,LINC01632,SRGAP2D,NBPF15
engchuan_15_ASD_discovery_cases-case4020_1
Unknown
PDZK1,CD160,RNF115
engchuan_15_ASD_discovery_cases-case4159_1
Unknown
PDZK1,CD160,RNF115
engchuan_15_ASD_discovery_cases-case4291_1
Unknown
ACP6;BCL9;CHD1L;FMO5;GJA5;GJA8;GPR89B;GPR89C;LOC728989;NBPF11;NBPF24;PDIA3P;PDZK1P1;PRKAB2
engchuan_15_ASD_discovery_cases-case4403_1
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_cases-case5007_3
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
engchuan_15_ASD_discovery_cases-case5114_3
Unknown
GPR89A;GPR89C;PDZK1;PDZK1P1
engchuan_15_ASD_discovery_cases-case5262_4
Unknown
RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,LINC01731,LINC01138
engchuan_15_ASD_discovery_cases-case5262_4
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,ANKRD35,RNF115
engchuan_15_ASD_discovery_cases-case5283_4
Unknown
PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_cases-case6150_3
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
engchuan_15_ASD_discovery_cases-case6362_3
Unknown
PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_cases-case8413_201
Unknown
FLJ39739;NBPF14;PPIAL4A;PPIAL4D;PPIAL4E;PPIAL4F
engchuan_15_ASD_discovery_cases-case8587_210
Unknown
FLJ39739;NBPF14;PPIAL4A;PPIAL4D;PPIAL4E;PPIAL4F
engchuan_15_ASD_discovery_cases-case8635_201
De novo
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
feliciano_19_ASD_discovery_cases-caseSP0017106
Paternal
Simplex
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
null
feliciano_19_ASD_discovery_cases-caseSP0046081
De novo
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
null
fry_16_DD/ID/EP/ASD_discovery_cases-caseR58
Solid phase hybridization (Illumina)
Maternal
CD160,RNF115
gai_11_ASD_discovery_cases-AU1163303
Inherited
LOC728989, PRKAB2, PDIA3P, FMO5, FMO5, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, LOC200030, NBPF11
gai_11_ASD_discovery_cases-AU1163304
Inherited
LOC728989, PRKAB2, PDIA3P, FMO5, FMO5, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, LOC200030, NBPF11
gai_11_ASD_discovery_cases-AU1610306
Inherited
LOC728989, PRKAB2, PDIA3P, FMO5, FMO5, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, LOC200030, NBPF11
gai_11_ASD_discovery_cases-AU1688302
Inherited
LOC728989, PRKAB2, PDIA3P, FMO5, FMO5, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, LOC200030, NBPF11
girirajan_11_ASD_discovery_cases-Si128
Unknown
Simplex
SEC22B,NOTCH2NL
girirajan_11_ASD_discovery_cases-Si162
Unknown
Simplex
NBPF25P,PDZK1,CD160,GPR89A,RNF115
girirajan_11_ASD_discovery_cases-Si173
Unknown
Simplex
SEC22B,NOTCH2NL
girirajan_11_ASD_discovery_cases-Si177
Unknown
Simplex
SEC22B,NOTCH2NL
girirajan_11_ASD_discovery_cases-Si192
Both parents
Simplex
OR13Z1P,LINC00624
girirajan_11_ASD_discovery_cases-Si217
Unknown
Simplex
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_11_ASD_discovery_cases-Si23
Unknown
Simplex
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_11_ASD_discovery_cases-Si24
Unknown
Simplex
SEC22B,NOTCH2NL
girirajan_11_ASD_discovery_cases-Si3
Unknown
Simplex
SEC22B,NOTCH2NL
girirajan_11_ASD_discovery_cases-Si313
Unknown
Simplex
SEC22B,NOTCH2NL
girirajan_11_ASD_discovery_cases-Si321
Unknown
Simplex
RN7SKP88,PDE4DIP
girirajan_11_ASD_discovery_cases-Si48
Unknown
Simplex
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_11_ASD_discovery_cases-Si66
Unknown
Simplex
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_11_ASD_discovery_cases-Si79
Unknown
Simplex
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_11_ASD_discovery_cases-Si85
Paternal
Simplex
OR13Z1P,LINC00624
girirajan_11_ASD_discovery_cases-Si95
Unknown
Simplex
SEC22B,NOTCH2NL
girirajan_12_ASD/DD/ID_discovery_cases-case0078
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0079
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0080
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0081
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0082
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0083
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0084
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0085
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0086
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0087
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0088
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0089
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0090
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0091
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0092
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0093
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0094
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0095
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0096
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0097
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0098
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0099
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0100
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0101
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0102
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0103
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0104
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0105
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0106
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0107
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0108
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0109
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0110
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0111
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0112
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0113
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0114
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0115
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0116
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0117
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0118
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0119
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0120
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0121
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0122
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0123
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0124
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0125
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0126
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0127
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0128
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0129
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0130
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0131
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0132
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0133
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0134
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0135
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0136
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0137
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0138
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0139
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0140
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0141
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0142
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0143
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0144
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0145
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0146
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0147
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0148
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0149
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0150
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0151
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0152
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0153
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0154
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0155
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0156
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0157
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0158
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0159
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0160
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0161
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0162
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0163
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0164
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0165
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0166
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0167
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0168
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0169
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0170
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0171
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0172
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0173
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0174
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0175
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0176
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0177
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0178
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0179
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0180
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0181
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0182
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0183
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0184
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0185
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0186
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0187
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0188
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0189
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0190
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0191
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0192
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0193
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0194
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0195
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0196
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0197
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0198
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0199
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0200
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0201
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0202
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0203
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0204
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0205
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0206
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0207
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0208
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0209
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0210
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0211
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0212
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0213
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0214
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0215
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0216
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0217
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0218
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0219
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0220
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0221
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0222
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0223
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0224
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0225
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0226
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0227
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0228
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0229
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0230
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0231
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0232
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0233
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0234
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0235
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0236
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0237
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0238
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0239
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0240
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0241
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0242
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0243
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0244
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0245
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case0246
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case20880
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case24219
FISH, aCGH, or confirmation by inheritance
Paternal
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case25163
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case27875
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case35416
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case36479
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case46609
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case49557
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case60918
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case67345
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case69470
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_cases-case73180
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_13a_ASD_discovery_cases-11712.p1
aCGH (NimbleGen 135K array)
Both parents
Simplex
Unknown
LINC00624
girirajan_13a_ASD_discovery_cases-12265.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24
girirajan_13a_ASD_discovery_cases-12345.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
LINC00624
girirajan_13a_ASD_discovery_cases-12420.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24
girirajan_13a_ASD_discovery_cases-12719.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
OR13Z1P,OR13Z2P,OR13Z3P,CHD1L,LINC00624
girirajan_13a_ASD_discovery_cases-12891.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24
girirajan_13a_ASD_discovery_cases-12907.p1
aCGH (NimbleGen 135K array)
De Novo
Simplex
Possibly segregated
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24
girirajan_13a_ASD_discovery_cases-13507.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24
girirajan_13a_ASD_discovery_cases-13975.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24
girirajan_13a_ASD_discovery_cases-14181.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_ASD_discovery_cases-14473.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24
girirajan_13a_ASD_discovery_cases-AU3144302
aCGH (NimbleGen 135K array)
De novo
Multiplex
Likely not segregated
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24
girirajan_13a_DD_discovery_cases-DDcase1
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase10
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase11
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase12
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase13
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase14
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase15
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase16
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase17
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase18
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase19
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase2
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase20
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase21
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase22
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase23
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase24
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase25
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase26
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase27
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase28
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase29
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase3
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase30
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase31
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase32
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase33
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase34
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase35
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase36
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase37
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase38
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase39
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase4
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase40
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase41
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase42
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase43
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase44
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase45
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase46
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase47
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase48
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase49
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase5
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase50
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase51
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase52
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase53
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase54
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase55
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase56
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase57
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase58
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase59
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase6
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase60
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase61
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase62
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase63
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase64
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase65
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase66
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase67
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase68
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase69
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase7
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase70
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase71
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase72
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase73
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase74
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase75
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase76
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase77
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase78
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase79
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase8
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase80
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase81
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase82
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase83
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase84
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase85
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase86
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase87
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase88
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase89
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase9
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
girirajan_13a_DD_discovery_cases-DDcase90
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase91
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase92
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase93
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase94
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase95
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase96
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase97
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13a_DD_discovery_cases-DDcase98
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24,NBPF10
girirajan_13b_ASD_discovery_cases-10609111027
Unknown
Unknown
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
girirajan_13b_ASD_discovery_cases-15008109638
Unknown
Unknown
Unknown
RN7SKP88,PDE4DIP
girirajan_13b_ASD_discovery_cases-21908109957
Unknown
Unknown
Unknown
NOTCH2NL
girirajan_13b_ASD_discovery_cases-25807108397
Unknown
Unknown
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_13b_ASD_discovery_cases-30708110281
Unknown
Unknown
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_13b_ASD_discovery_cases-40906106831
Unknown
Unknown
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_13b_ASD_discovery_cases-47609111962
Unknown
Unknown
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_13b_ASD_discovery_cases-55104100200
Unknown
Unknown
Unknown
RN7SKP88,PDE4DIP
girirajan_13b_ASD_discovery_cases-60704102209
Unknown
Unknown
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_13b_ASD_discovery_cases-607107598
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
girirajan_13b_ASD_discovery_cases-607107598
aCGH (Agilent hotspot 2x400K)
De novo
Unknown
Unknown
PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A
girirajan_13b_ASD_discovery_cases-9005102681
Unknown
Unknown
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
girirajan_13b_ASD_discovery_cases-9805103469
Unknown
Unknown
Unknown
RN7SKP88,RNU2-38P,PDE4DIP
griswold_12_ASD_discovery_cases-case17331
qPCR
Paternal
Multiplex
Not segregated
RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
griswold_12_ASD_discovery_cases-case7804
qPCR
De novo
Multiplex
Not segregated
RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
handrigan_13_ASD/DD/ID_discovery_cases-patient8
Maternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
itsara_10_ASD_discovery_cases-HI3079
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
PRKAB2,PDIA3P,FMO5,CHD1L,LOC100289211,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,PDZK1P1,NBPF11,NBPF24
itsara_10_ASD_discovery_cases-HI3745
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
PDZK1,CD160,RNF115
kalsner_17_ASD_discovery_cases-case2
Unknown (not maternal)
Unknown
Unknown
NBPF20,NBPF19,NBPF10,NBPF11,NBPF12,PRKAB2,CHD1L,FMO5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000021
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000038
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4C,PPIAL4A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000245
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF24,NBPF11,PPIAL4A,NBPF14,PPIAL4E,PPIAL4F,PPIAL4D,NBPF15,NBPF16,PPIAL4C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000454
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4C,PPIAL4A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000458
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000602
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4C,PPIAL4A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000753
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GJA5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000775
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4C,PPIAL4A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000868
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000913
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,FMO5,LINC00624,BCL9,GPR89B,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000955
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000989
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
GJA5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001019
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001091
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001194
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001227
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001276
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001286
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001287
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001612
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001616
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,GPR89A,ANKRD35,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001617
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001640
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001647
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001889
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002017
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002019
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002072
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002098
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002168
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002206
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002245
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002254
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PDZK1,CD160,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002257
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002270
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002273
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,FMO5,LINC00624,BCL9,GPR89B,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002422
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002426
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002450
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002455
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002456
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PPIAL4G,PPIAL4C,PPIAL4B,PPIAL4A,NBPF9,PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF24,NBPF11,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF14,PPIAL4E,PPIAL4F,PPIAL4D,NBPF15,NBPF16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002460
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002501
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002520
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002625
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF24,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002696
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002715
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF24,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002734
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,RNU1-59P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002740
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF24,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002740
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002786
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003780
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003819
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003826
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003843
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003851
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003858
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003896
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4G,PPIAL4C,PPIAL4B,PPIAL4A,NBPF9,PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF24,NBPF11,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF14,PPIAL4E,PPIAL4F,PPIAL4D,NBPF15,NBPF16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003902
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003940
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF24,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003944
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004010
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004052
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004059
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF24,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004071
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004074
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004104
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004141
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PDZK1,CD160,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004160
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,GPR89A,ANKRD35,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004231
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004240
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF24,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004244
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004244
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004271
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004274
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004280
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF24,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004281
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PPIAL4G,PPIAL4C,PPIAL4B,PPIAL4A,NBPF9,PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF24,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004367
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,ANKRD35
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004368
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NBPF9,PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF24,NBPF11,PRKAB2,FMO5,CHD1L
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004384
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004400
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004431
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004432
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004464
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004493
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004503
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004518
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004557
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF24,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004575
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004611
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004624
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004677
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004685
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004694
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004723
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004761
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,HIST2H3PS2,RPL22P5,IGKV1OR1-1,RNA5SP529,PPIAL4E,RNVU1-15,PFN1P6,PPIAL4F,RNA5SP59,PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,NBPF17P,HIST2H2BB,FAM72C,DRD5P2,LINC01632,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,SRGAP2D,NBPF15,SRGAP2B,FAM72D,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004765
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004770
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004780
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004799
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004812
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004851
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PDZK1,CD160,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004862
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004889
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004908
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004917
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004945
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005010
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
PDZK1,CD160,RNF115
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005027
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF24,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005066
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005074
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP59,PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01632,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,SRGAP2B,FAM72D,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005100
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF24,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005117
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005125
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005133
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005178
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005190
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005307
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP59,PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01632,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,SRGAP2B,FAM72D,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005312
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005408
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF24,NBPF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00011133
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,ANKRD35
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00012448
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,GPR89A,ANKRD35,RNF115
kousoulidou_13_ASD_discovery_cases-patient8
qPCR
Maternal
Unknown
Unknown
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
krumm_13_ASD_discovery_cases-case12719.p1
Maternal
Simplex
Segregated
CHD1L,LINC00624
krumm_15_ASD_discovery_cases-case14181.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kushima_18_SCZ_discovery_cases-caseSCZ0194
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
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kushima_18_SCZ_discovery_cases-caseSCZ0242
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
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kushima_18_SCZ_discovery_cases-caseSCZ0288
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
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kushima_18_SCZ_discovery_cases-caseSCZ0503
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
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kushima_18_SCZ_discovery_cases-caseSCZ0690
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
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kushima_18_SCZ_discovery_cases-caseSCZ0952
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
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
kushima_18_SCZ_discovery_cases-caseSCZ1194
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
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kushima_18_SCZ_discovery_cases-caseSCZ1792
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
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kushima_18_SCZ_discovery_cases-caseSCZ2104
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
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,RNF115,HYDIN2
kushima_18_SCZ_discovery_cases-caseSCZ2447
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
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kushima_18_SCZ_discovery_cases-caseSCZ2563
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
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
kushima_22_BPD_discovery_cases-caseBD0653
qRT-PCR
Unknown
RNF115,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,ANKRD34A,GPR89A,PDZK1,MIR6736,LIX1L-AS1,PEX11B,ITGA10,RBM8A,POLR3C,PIAS3,CD160,TXNIP
kushima_22_SCZ_discovery_cases-caseSCZ0242
qRT-PCR
Unknown
RNF115,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,ANKRD34A,GPR89A,PDZK1,NBPF25P,MIR6736,LIX1L-AS1,PEX11B,ITGA10,RBM8A,POLR3C,PIAS3,CD160,TXNIP
kushima_22_SCZ_discovery_cases-caseSCZ1194
qRT-PCR
Unknown
RNF115,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,ANKRD34A,GPR89A,PDZK1,NBPF25P,MIR6736,LIX1L-AS1,PEX11B,ITGA10,RBM8A,POLR3C,PIAS3,CD160,TXNIP
leite_22_DD/ID_discovery_cases-case029
Paternal
RNF115,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,ANKRD34A,GPR89A,PDZK1,LINC01719,RNVU1-6,MIR6736,LIX1L-AS1,PEX11B,ITGA10,RBM8A,POLR3C,PIAS3,CD160,TXNIP
levy_11_ASD_discovery_cases-11207.p1
Maternal
Simplex
Not segregated
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,HIST2H3PS2,RPL22P5,NBPF17P,HIST2H2BB,FAM72C
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
Unknown
Simplex
Unknown
RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF24,NBPF11
maini_18_ASD/DD/ID_discovery_cases-case75
Paternal
Not simplex
Unknown
PDZK1,CD160,RNF115
maini_18_ASD/DD/ID_discovery_cases-case_unknown95
Maternal
Unknown
Unknown
PDZK1,CD160,RNF115
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530898
Unknown
RNF115,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,PFN1P3,ANKRD34A,NOTCH2NLA,PPIAL4D,GPR89A,NBPF10,NBPF20,PDE4DIPP5,PDZK1,NBPF25P,LINC01719,RNVU1-14,RNVU1-6,MIR6736,LINC01145,LIX1L-AS1,PEX11B,ITGA10,RNVU1-31,RNU1-154P,RBM8A,POLR3C,PIAS3,CD160,TXNIP
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530901
Unknown
RNF115,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,ANKRD34A,NOTCH2NLA,GPR89A,NBPF10,PDZK1,NBPF25P,LINC01719,RNVU1-6,MIR6736,LIX1L-AS1,PEX11B,ITGA10,RBM8A,POLR3C,PIAS3,CD160,TXNIP
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530905
Unknown
RNF115,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,ANKRD34A,GPR89A,PDZK1,NBPF25P,MIR6736,LIX1L-AS1,PEX11B,ITGA10,RBM8A,POLR3C,PIAS3,CD160,TXNIP
miclea_22_DD/ID_discovery_cases-case165
Unknown
RNF115,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NUDT17,ANKRD34A,PDZK1,MIR6736,LIX1L-AS1,PEX11B,ITGA10,RBM8A,POLR3C,PIAS3,CD160,TXNIP
monteiro_19_ASD_discovery_cases_case27
De novo
RNU1-151P,RNVU1-8,PRKAB2
monteiro_19_ASD_discovery_cases_case30
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
morrow_08_ASD_discovery_cases-case6301
Paternal
NA
NA
NBPF1
mosca_16_DCD_discovery_cases-case114303
Unknown
Multi-generational
Unknown
NBPF20,NBPF10,RNF115,CD160,PDZK1,GPR89A,NBPF11
nguyen_13_DD/ID/MCA/ASD_discovery_cases-2375
Inherited from normal parent
Unknown
Unknown
SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24
nguyen_13_DD/ID/MCA/ASD_discovery_cases-248905
Inherited from normal parent
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,ANKRD35,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249001
Inherited from normal parent
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,ANKRD35,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249131
Inherited from normal parent
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249154
Inherited from normal parent
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250731
Inherited from normal parent
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,ANKRD35,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_cases-252458
De novo
Unknown
Possibly segregated
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_cases-254020
Inherited from normal parent
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_cases-255784
Inherited from normal parent
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_cases-255915
Inherited from normal parent
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,GPR89A,ANKRD35,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256532
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256998
De novo
Unknown
Possibly segregated
NBPF9,PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24,PRKAB2,FMO5,CHD1L
nguyen_13_DD/ID/MCA/ASD_discovery_cases-257093
Inherited from normal parent
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_cases-258316
Inherited from normal parent
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_cases-258860
Inherited from normal parent
Unknown
Unknown
NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260137
De novo
Unknown
Possibly segregated
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260556
Unknown
Unknown
Unknown
PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260565
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260577
Unknown
Unknown
Unknown
RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC35373
FISH
Maternal
Unknown
Unknown
PPIAL4B,PPIAL4C,PPIAL4A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC46609
FISH
Unknown
Unknown
Unknown
PPIAL4B,PPIAL4C,PPIAL4A,NBPF9,PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient10
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient100
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient101
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient102
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient103
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient104
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient105
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient106
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient107
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient108
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient109
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient11
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient110
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient111
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient112
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient113
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient114
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient115
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient116
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient117
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient118
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient119
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient12
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient120
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient121
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient122
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient13
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient14
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient15
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient16
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient17
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient18
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient19
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient20
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient21
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient22
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient23
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient24
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient25
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient26
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient27
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient28
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient29
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient30
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient31
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient32
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient33
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient34
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient35
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient36
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient37
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient38
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient39
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient40
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient41
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient42
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient43
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient44
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient45
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient46
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient47
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient48
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient49
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient5
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient50
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient51
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient52
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient53
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient54
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient55
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient56
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient57
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient58
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient59
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient6
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient60
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient61
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient62
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient63
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient64
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient65
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient66
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient67
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient68
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient69
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient7
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient70
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient71
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient72
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient73
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient74
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient75
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient76
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient77
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient78
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient79
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient8
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient80
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient81
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient82
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient83
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient84
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient85
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient86
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient87
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient88
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient89
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient9
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient90
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient91
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient92
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient93
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient94
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient95
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient96
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient97
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient98
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient99
Unknown
Unknown
Unknown
Minimum CNV gene content: RBM8A
pfundt_16_NDD_discovery_cases-case116
NBPF20 NBPF9 NBPF25P NBPF10 HFE2 TXNIP POLR3GL ANKRD34A LIX1L RBM8A GNRHR2 PEX11B ITGA10 ANKRD35 PIAS3 MIR6736 NUDT17 POLR3C RNF115 CD160 PDZK1 GPR89A NBPF25P PDZK1P2 NBPF11 NBPF12 LOC728989
pfundt_16_NDD_discovery_cases-case42
NBPF20 NBPF9 SEC22B NOTCH2NL NBPF25P NBPF10 HFE2 TXNIP POLR3GL ANKRD34A LIX1L RBM8A GNRHR2 PEX11B ITGA10 ANKRD35 PIAS3 MIR6736 NUDT17 POLR3C RNF115 CD160 PDZK1 GPR89A
pinto_10_ASD_discovery_cases-case13135_1523
qPCR-Maternal
maternal
Multiplex (sib with Aspergers)
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
pinto_10_ASD_discovery_cases-case5007_3
Agilent1M
maternal
Multiplex
NA
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
pinto_10_ASD_discovery_cases-case5262_4
Agilent1M
paternal
Simplex
NA
RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,LINC01731,LINC01138
pinto_10_ASD_discovery_cases-case5262_4
Agilent1M
paternal
Simplex
NA
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,ANKRD35,RNF115
pinto_14_ASD_discovery_cases2-case16035_1571013001
qPCR
De novo
Multiplex
Likley not segregated (brother with Asperger syndrome, not tested)
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
pinto_14_ASD_discovery_cases2-case4291_1
qPCR (Griswold et al. 2011, PMID: 21360829)
Maternal
Multiplex
Not segregated (not present in affected sibling)
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, GPR89C, LOC728989, NBPF11, NBPF24, PDIA3P, PDZK1P1, PRKAB2
pinto_14_ASD_discovery_cases2-case8635_201
qPCR
De novo
Multiplex
Likely not segregated (1 sister with epilepsy and unilateral deafness and 1 healthy sister, not tested)
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
poultney_13_ASD_discovery_cases-case00HI1404A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PDZK1,CD160,GPR89A,RNF115
poultney_13_ASD_discovery_cases-case01HI2158A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU2-38P,PDE4DIP
poultney_13_ASD_discovery_cases-case03HI2530A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PDZK1,CD160,GPR89A,RNF115
poultney_13_ASD_discovery_cases-case05HI4548A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NUDT17,MIR6736,CD160,POLR3C,PIAS3,ITGA10,ANKRD35,RNF115
poultney_13_ASD_discovery_cases-case05HI4548A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
LOC100288142,NBPF9,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL
poultney_13_ASD_discovery_cases-case98HI0089B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
LOC100288142,NBPF9,PDE4DIP,SEC22B
poultney_13_ASD_discovery_cases-case99HI0765
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PDZK1,CD160,GPR89A,RNF115
poultney_13_ASD_discovery_cases-case99HI0802A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU2-38P,PDE4DIP
poultney_13_ASD_discovery_cases-case99HI1140A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PDZK1,CD160,GPR89A,RNF115
prasad_12_ASD_discovery_cases-case168169
Unknown
Unknown
Unknown
SEC22B,NOTCH2NL
prasad_12_ASD_discovery_cases-case62798L
Unknown
Unknown
Unknown
SEC22B,NOTCH2NL
quintela_17_DD/ID_discovery_cases-caseID_302
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
rosenfeld_10_ASD_discovery_cases-case20378
FISH
Paternal
Unknown
Unknown
FMO5,CHD1L,BCL9,ACP6,GJA5
rosenfeld_10_ASD_discovery_cases-case22428
FISH
Unknown
Unknown
Unknown
HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115
rosenfeld_10_ASD_discovery_cases-case22428
FISH
Unknown
Unknown
Unknown
FMO5,CHD1L,BCL9,ACP6,GJA5
rosenfeld_10_ASD_discovery_cases-case22992
FISH
Maternal
Unknown
Unknown
FMO5,CHD1L,BCL9,ACP6,GJA5
rosenfeld_10_ASD_discovery_cases-case5753
FISH
Maternal
Unknown
Unknown
HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115
sahoo_11_DD_discovery_cases-patient2
Unknown
Multiplex (brothers with speech & language delays)
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132
Not tested by qPCR
Unknown
Unknown
Unknown
MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,LINC01731,LINC01138
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132
qPCR
Unknown
Unknown
Unknown
GJA5
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132
qPCR
Unknown
Unknown
Unknown
LINC00624,BCL9
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132
qPCR
Unknown
Unknown
Unknown
RNU1-151P,NBPF12,NBPF13P
sanders_11_ASD_discovery_cases-11067.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NBPF25P,PDZK1,CD160,GPR89A
sanders_11_ASD_discovery_cases-11110.p1
Unknown
Simplex (quad-proband matched)
Segregated
ACP6,BCL9
sanders_11_ASD_discovery_cases-11543.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GJA8,GJA5,GPR89B
sanders_11_ASD_discovery_cases-11712.p1
Both parents
Simplex (quad-proband matched)
Segregated
OR13Z1P,LINC00624
sanders_11_ASD_discovery_cases-11715.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ACP6,BCL9
sanders_11_ASD_discovery_cases-11845.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NBPF25P,PDZK1,CD160,GPR89A,RNF115
sanders_11_ASD_discovery_cases-12264.p1
Maternal
Simplex (trio)
NA
PDZK1,CD160,GPR89A,RNF115
sanders_11_ASD_discovery_cases-12265.p1
Paternal
Simplex (trio)
NA
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
sanders_11_ASD_discovery_cases-12345.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR13Z1P,LINC00624
sanders_11_ASD_discovery_cases-12355.p1
Paternal
Simplex (trio)
NA
PDZK1,CD160,GPR89A,RNF115
sanders_11_ASD_discovery_cases-12366.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ACP6,BCL9
sanders_11_ASD_discovery_cases-12420.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
sanders_11_ASD_discovery_cases-12617.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NBPF25P,PDZK1,CD160,GPR89A,RNF115
sanders_11_ASD_discovery_cases-12821.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00624
sanders_11_ASD_discovery_cases-12836.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00624
sanders_11_ASD_discovery_cases-12852.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00624
sanders_11_ASD_discovery_cases-12888.p1
Both parents
Simplex (quad-proband matched)
Segregated
LINC00624
sanders_11_ASD_discovery_cases-12907.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
sanders_11_ASD_discovery_cases-12955.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NBPF25P,PDZK1,CD160,GPR89A,RNF115
sanders_11_ASD_discovery_cases-13041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00624
sansovic_17_DD/ID/ASD_discovery_cases-case86
Paternal
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
sansovic_17_DD/ID/ASD_discovery_cases-case87
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
shen_10_ASD_discovery_cases-ASD-09-025
De novo
NA
NA
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,HIST2H3PS2,RPL22P5,NBPF17P,HIST2H2BB
shen_10_ASD_discovery_cases-ASD-09-026
Paternal
NA
NA
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,ANKRD35,RNF115
shin_15_ASD/DD/ID_discovery_cases-case1
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,GPR89A,ANKRD35,RNF115
szatmari_07_ASD_discovery_cases-NAAR007-D4-8172-111
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
PRKAB2,PDIA3P,FMO5,CHD1L,LOC100289211,BCL9,ACP6,GJA5,GJA8,GPR89A,GPR89B,GPR89C,PDZK1P1
szatmari_07_ASD_discovery_cases-NAAR007-D5-8172-201
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
PRKAB2,PDIA3P,FMO5,CHD1L,LOC100289211,BCL9,ACP6,GJA5,GJA8,GPR89A,GPR89B,GPR89C,PDZK1P1
szatmari_07_ASD_discovery_cases-NAAR007-D6-8172-202
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
PRKAB2,PDIA3P,FMO5,CHD1L,LOC100289211,BCL9,ACP6,GJA5,GJA8,GPR89A,GPR89B,GPR89C,PDZK1P1
szatmari_07_ASD_discovery_cases-NAAR070-D8-HI3079
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
PRKAB2,PDIA3P,FMO5,CHD1L,LOC100289211,BCL9,ACP6,GJA5,GJA8,GPR89A,GPR89B,GPR89C,PDZK1P1
tuncay_22_ASD_discovery_cases-caseJC-57-3
Unknown
Simplex
Unknown
FMO5,RNVU1-7,RNF115,NBPF12,NBPF11,PDIA3P1,CCT8P1,NBPF13P,GPR89A,PDZK1P1,HYDIN2,PFN1P8,RNVU1-8,PDZK1,PRKAB2,RNA5SP57,CHD1L,CD160
tuncay_23_ASD_discovery_cases-caseMCD-032-4
Unknown
NBPF12
tzetis_12_DD/ID_discovery_cases-case7
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF24,NBPF11,PPIAL4A,NBPF14,PPIAL4D,PPIAL4F,PPIAL4E,NBPF15,NBPF16
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,NBPF17P
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
NKAIN1P1
van_den_bossche_12_ID_discovery_cases-Sc7161
Unknown
Unknown
Unknown
RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
van_den_bossche_12_ID_discovery_cases-Sc7525
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
van_den_bossche_12_SCZ_discovery_cases-Sc11501
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
van_den_bossche_12_SCZ_discovery_cases-Zas9077
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
van_den_bossche_12_SCZ_discovery_cases-Zas9802
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
wang_10_ASD_discovery_cases-AC0037
Unknown
NA
NA
RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
woodbury-smith_14_ASD_discovery_cases-case7
Paternal
Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
Unknown
OR13Z1P,OR13Z2P,LINC00624
xu_16_ASD/DD/ID_discovery_cases-case34
De novo
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
xu_16_ASD/DD/ID_discovery_cases-case34
Paternal
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case2
Unknown
Unknown
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
Downregulated expression of CHD1L and BCL9
yin_16_ASD_discovery_cases-case32
Unknown
Unknown
Unknown
LOC653513,PDE4DIP,BC065231,BX647792,SEC22B,NOTCH2NL,NBPF10,LOC100288142,NBPF9
yin_16_ASD_discovery_cases-case33
Unknown
Unknown
Unknown
LOC653513,PDE4DIP,BC065231,BX647792,SEC22B,NOTCH2NL,NBPF10,LOC100288142,NBPF9
yin_16_ASD_discovery_cases-case34
Unknown
Unknown
Unknown
POLR3C,RNF115
yuen_17_ASD_discovery_cases-case2-0305-003
Affymetrix CytoScan HD
Maternal
Multiplex
Possibly segregated
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
yuen_17_ASD_discovery_cases-case2-0305-004
Affymetrix CytoScan HD
Maternal
Multiplex
Possibly segregated
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,ANKRD35,RNF115
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0747-003
RT-qPCR or WGS
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0305-003
RT-qPCR or WGS
Maternal
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0305-004
RT-qPCR or WGS
Maternal
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0380-001
RT-qPCR or WGS
Unknown
NUDT4P1,RNU6-1071P,RP11-458D21.6,RP11-458D21.5,NBPF10,RP11-458D21.1,RNVU1-6,HFE2,POLR3GL,RP11-315I20.1,GNRHR2,PEX11B,ITGA10,RP11-315I20.3,ANKRD35,PIAS3,NUDT17,POLR3C,CD160,PDZK1,GPR89A,WI2-925H4.1,GPR89C,PDZK1P1,RNU1-137P,RP11-94I2.4,RNVU1-7
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10123
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NOTCH2NLA,GPR89A,ANKRD35,NBPF10,RNF115
coe_14_ASD/DD/ID_discovery_controls-control44
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_controls-control45
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_controls-control46
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_controls-control47
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_controls-control48
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_controls-control49
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_controls-control50
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_controls-control51
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_controls-control52
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_controls-control53
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_controls-control54
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_controls-control55
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
coe_14_ASD/DD/ID_discovery_controls-control56
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,ANKRD35,RNF115
engchuan_15_ASD_discovery_controls-controlB175984_1007852624
Unknown
PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_controls-controlB367211_1007844575
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_controls-controlB392747_1007873163
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_controls-controlB557049_1007853857
Unknown
PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_controls-controlB586615_1007875854
Unknown
RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,LINC01731,LINC01138
engchuan_15_ASD_discovery_controls-controlB639462_1007875232
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_controls-controlB667482_1007854320
Unknown
PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_controls-controlB907712_1007852916
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_controls-controlB984152_1007842480
Unknown
RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,FMO5,LINC00624,BCL9,GPR89B,NBPF11
engchuan_15_ASD_discovery_controls-controlB984152_1007842480
Unknown
MIR5087,RNU1-122P,LINC01138
engchuan_15_ASD_discovery_controls-controlHABC_900065_900065
Unknown
HJV
engchuan_15_ASD_discovery_controls-controlHABC_900102_900102
Unknown
PDZK1,CD160,RNF115
engchuan_15_ASD_discovery_controls-controlHABC_900156_900156
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_controls-controlHABC_900243_900243
Unknown
FLJ39739;NBPF14;PPIAL4A;PPIAL4D;PPIAL4E;PPIAL4F
engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
Unknown
FLJ39739;NBPF14;PPIAL4A;PPIAL4D;PPIAL4E;PPIAL4F
engchuan_15_ASD_discovery_controls-controlHABC_900297_900297
Unknown
FLJ39739;LOC100130000;NBPF14;PPIAL4A;PPIAL4D;PPIAL4E;PPIAL4F
engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
Unknown
RNA5SP533,NKAIN1P1
engchuan_15_ASD_discovery_controls-controlHABC_900344_900344
Unknown
PDZK1,CD160,RNF115
engchuan_15_ASD_discovery_controls-controlHABC_900357_900357
Unknown
FLJ39739;NBPF14;PPIAL4A;PPIAL4D;PPIAL4E;PPIAL4F
engchuan_15_ASD_discovery_controls-controlHABC_900503_900503
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
engchuan_15_ASD_discovery_controls-controlHABC_900627_900627
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_controls-controlHABC_900634_900634
Unknown
FLJ39739;LOC100130000;NBPF14;NBPF15;PPIAL4A;PPIAL4D;PPIAL4E;PPIAL4F
engchuan_15_ASD_discovery_controls-controlHABC_900804_900804
Unknown
PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_controls-controlHABC_900884_900884
Unknown
OR13Z1P,OR13Z2P,LINC00624
engchuan_15_ASD_discovery_controls-controlHABC_902634_902634
Unknown
NBPF25P,PDZK1,CD160,GPR89A,RNF115
engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
Unknown
RNU1-120P,LINC01731,LINC01138
girirajan_11_ASD_discovery_controls-NIMH_141
Unknown
RN7SKP88,RNU2-38P,PDE4DIP
girirajan_11_ASD_discovery_controls-NIMH_162
Unknown
RN7SKP88,PDE4DIP
girirajan_11_ASD_discovery_controls-NIMH_170
Unknown
RN7SKP88,PDE4DIP
girirajan_11_ASD_discovery_controls-NIMH_179
Unknown
RN7SKP88,PDE4DIP
girirajan_11_ASD_discovery_controls-NIMH_182
Unknown
RNU2-38P,PDE4DIP
girirajan_11_ASD_discovery_controls-NIMH_184
Unknown
RN7SKP88,PDE4DIP
girirajan_11_ASD_discovery_controls-NIMH_196
Unknown
RN7SKP88,PDE4DIP
girirajan_11_ASD_discovery_controls-NIMH_200
Unknown
RN7SKP88,PDE4DIP
girirajan_11_ASD_discovery_controls-NIMH_214
Unknown
RN7SKP88,PDE4DIP
girirajan_11_ASD_discovery_controls-NIMH_215
Unknown
RN7SKP88,PDE4DIP
girirajan_11_ASD_discovery_controls-NIMH_279
Unknown
RNU2-38P,PDE4DIP
girirajan_11_ASD_discovery_controls-NIMH_301
Unknown
RN7SKP88,PDE4DIP
girirajan_11_ASD_discovery_controls-NIMH_306
Unknown
RN7SKP88,PDE4DIP
girirajan_11_ASD_discovery_controls-NIMH_307
Unknown
RNU2-38P,PDE4DIP
girirajan_12_ASD/DD/ID_discovery_controls-control1
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_controls-control2
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_12_ASD/DD/ID_discovery_controls-control3
NA
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
girirajan_13a_ASD_discovery_controls3-control1
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24
girirajan_13a_ASD_discovery_controls3-control2
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24
girirajan_13a_ASD_discovery_controls3-control3
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF8,NBPF11,NBPF24
girirajan_13b_ASD_discovery_controls-1506105511
Unknown
RNU2-38P,PDE4DIP
girirajan_13b_ASD_discovery_controls-16409111183
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_13b_ASD_discovery_controls-1707107618
Unknown
OR13Z1P,OR13Z2P,LINC00624
girirajan_13b_ASD_discovery_controls-20209111301
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_13b_ASD_discovery_controls-23107108218
Unknown
SEC22B,NOTCH2NL
girirajan_13b_ASD_discovery_controls-30706106486
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_13b_ASD_discovery_controls-44906106952
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_13b_ASD_discovery_controls-54305104360
Unknown
SEC22B
girirajan_13b_ASD_discovery_controls-58505104521
Unknown
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,NBPF17P,HIST2H2BB
girirajan_13b_ASD_discovery_controls-72204103059
Unknown
SEC22B,NOTCH2NL
girirajan_13b_ASD_discovery_controls-8206105715
Unknown
PDZK1,CD160,RNF115
kaminsky_11_DD/ID/ASD_discovery_controls-control0010
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
kaminsky_11_DD/ID/ASD_discovery_controls-control0011
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
kaminsky_11_DD/ID/ASD_discovery_controls-control0012
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
kaminsky_11_DD/ID/ASD_discovery_controls-control0013
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
kaminsky_11_DD/ID/ASD_discovery_controls-control0014
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
kaminsky_11_DD/ID/ASD_discovery_controls-control0015
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
kaminsky_11_DD/ID/ASD_discovery_controls-control0039
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_controls-control0040
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_controls-control0041
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_controls-control0042
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_controls-control0043
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_controls-control0044
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_controls-control0045
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_controls-control0046
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_controls-control0047
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_controls-control0048
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_controls-control0049
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_controls-control0050
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
kaminsky_11_DD/ID/ASD_discovery_controls-control0051
Unknown
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
krumm_13_ASD_discovery_controls-control13215.s1
Paternal
Simplex
NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,GPR89A,ANKRD35,RNF115
levy_11_ASD_discovery_controls-11207.s1
Paternal
Simplex
NA
GJA8,GJA5,GPR89B
levy_11_ASD_discovery_controls-11207.s1
Maternal
Simplex
NA
PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,HIST2H3PS2,RPL22P5,NBPF17P,HIST2H2BB,FAM72C
levy_11_ASD_discovery_controls-12197.s1
Maternal
Simplex
NA
NBPF25P,PDZK1,CD160,GPR89A,RNF115
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control2
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control3
Unknown
Unknown
Minimum CNV gene content: RBM8A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control4
Unknown
Unknown
Minimum CNV gene content: RBM8A
poultney_13_ASD_discovery_controls-control05C43468A
Unknown
RN7SKP88,RNU2-38P,PDE4DIP
poultney_13_ASD_discovery_controls-control05C45836
Unknown
LOC100288142,NBPF9,PDE4DIP,SEC22B
sanders_11_ASD_discovery_controls-11067.s1
Paternal
Simplex (quad)
NA
NBPF25P,PDZK1,GPR89A
sanders_11_ASD_discovery_controls-11543.s1
Maternal
Simplex (quad)
NA
GJA8,GJA5
sanders_11_ASD_discovery_controls-12197.s1
Maternal
Simplex (quad)
NA
NBPF25P,PDZK1,CD160,GPR89A,RNF115
sanders_11_ASD_discovery_controls-12345.s1
Paternal
Simplex (quad)
NA
OR13Z1P,LINC00624
sanders_11_ASD_discovery_controls-12617.s1
Maternal
Simplex (quad)
NA
PDZK1,CD160,GPR89A,RNF115
sanders_11_ASD_discovery_controls-12785.s1
Paternal
Simplex (quad)
NA
NBPF13P
sanders_11_ASD_discovery_controls-12852.s1
Maternal
Simplex (quad)
NA
LINC00624
van_den_bossche_12_BPD_discovery_controls-Bas1325
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
van_den_bossche_12_BPD_discovery_controls-Berk2056
Unknown
Unknown
Unknown
PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF24,NBPF11,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5
van_den_bossche_12_ID_discovery_controls-Bas1325
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
van_den_bossche_12_ID_discovery_controls-Berk2056
Unknown
Unknown
Unknown
PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF24,NBPF11,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5
van_den_bossche_12_MDD_discovery_controls-Bas1325
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
van_den_bossche_12_MDD_discovery_controls-Berk2056
Unknown
Unknown
Unknown
PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF24,NBPF11,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5
van_den_bossche_12_SCZ_discovery_controls-Bas1325
Unknown
Unknown
Unknown
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
van_den_bossche_12_SCZ_discovery_controls-Berk2056
Unknown
Unknown
Unknown
PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF24,NBPF11,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5
No Animal Model Data Available