Xq28CNV Type: Deletion-Duplication
Largest CNV size: 542218 bp
Statistics Box:
Number of Reports: 78
Number of Reports: 78
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
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
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Protein interactome reveals converging molecular pathways among autism disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Duplication
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
Duplication
A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory ...
Duplication
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
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
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number ga...
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Deletion
Frequency and Complexity of De Novo Structural Mutation in Autism.
Deletion
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
Deletion
A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.
Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion-Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
Deletion
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.
Duplication
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Deletion
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion-Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion-Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Deletion-Duplication
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Duplication
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
Duplication
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders
Deletion
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Duplication
Diagnostic yield of patients with undiagnosed intellectual disability
Duplication
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
addis_15_ASD_replication_cases
ASD cases from the Autism Genome Project and two Canadian ASD cohorts
2846
All cases with a clinical diagnosis of ASD (ADI-R and/or ADOS)
N/A
N/A
3610
2
0
2
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
156000
1
0
1
bartnik_12_EP_discovery_cases
102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
102
Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
NA
NA
4976000
0
2
2
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
519000
0
2
2
bitar_19_ASD_discovery_cases
ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
19
Cases diagnosed with ASD using DSM-IV criteria and CARS
N/A
84.21% Male
339000
0
1
1
brandler_16_ASD_discovery_cases
ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)
71
Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.
N/A
N/A
54450
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
433150
2
1
3
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
360000
0
1
1
brunet_21_NDD_discovery_cases
Individuals with neurodevelopmental disorders (NDDs) recruited from August 2017-July 2020 from different centers for human genetics, neuropediatrics and neurology in Germany, Switzerland, Slovakia and Czech Republic.
231
Patients presented with neurodevelopmental disorders, including global developmental delay (75.8%), intellectual disability (19.9%), autism behavior/autism (11.3%), and seizures (30.3%).
Range, 1 mos.-46 yrs. (median 5.3 yrs.)
49.35% Male
311956
0
1
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
23928
2
0
2
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
3816423
0
1
1
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
1077384
1
1
2
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
28693
4
0
4
chong_14_DD/ID/ASD/MCA_discovery_cases
Patients referred to clinical genetics service and recruited for CMA application study
105
Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
N/A
N/A
1330000
0
1
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
740877
1
1
2
cukier_12_ASD_discovery_cases
ASD probands recruited from clinical and educational settings throughout the United States and ascertained at the John P. Hussman Institute for Human Genetics (HIHG) at the University of Miami, the University of South Carolina (Columbia, SC), and the Center for Human Genetics Research at Vanderbilt University (Nashville, TN).
287
Diagnosis of ASD based on DSM-IV criteria and supported by ADI-R. Additional inclusion criteria: IQ>35 or developmental level >18 months (as determined by VABS). Exclusion criteria: severe sensory problems, significant motor impairments, or identified metabolic, genetic, or progressive neurological disorders.
Range, 3-21 yrs.
83.3% Male
294000
0
2
2
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
1276967
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
439638
0
1
1
du_21_ASD/DD/ID/EP_discovery_cases
Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
511
Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
Range, 3 mos.-35 yrs. (median age, 3 yrs.)
73.6% Male
899232
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
542217
3
28
31
firouzabadi_16_ASD_discovery_cases
Sporadic ASD cases born to unrelated parents with no family history of ASD, with an additional ASD case with an affected father
15
ASD cases met DSM5 criteria and were diagnosed by pediatric neurologists specializing in autism
N/A
N/A
92000
1
0
1
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
1156588
0
1
1
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
222000
1
0
1
gardner_21_DD_discovery_cases
Individual with a de novo 22kb Xq28 deletion affecting the MECP2 gene from the DECIPHER database (DECIPHER ID 279220)
1
Case presented with developmental delay (DD).
NA
Female
22118
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
40322
1
2
3
guo_19_DD/ID_discovery_cases
Patients hospitalized at the Department of Pediatric Rehabilitation Medicine, Zhengzhou Children's Hospital, between April 2017 and March 2019 showing clinical signs of neurodevelopmental disorders
54
Cases presented with one or more neurodevelopmental disorders, with global developmental delay and intellectual disability being among the most frequently observed phenotypes in this cohort.
Median age, 15 (8-26) months
61.1% Male
310000
0
1
1
hanchard_12_ASD_discovery_cases
Affected female consultand from a pedigree with ASDs, epilepsy, and cognitive processing problems
1
Formal autism evaluation using Gilliam Autism Rating scales (GARS) consistent with diagnosis of PDD-NOS. Additional diagnoses of ADHD and epilepsy.
6 yrs.
Female
115000
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
461264
0
4
4
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
358000
1
1
2
hu_18_ASD/ADHD_discovery_cases
Chinese male presenting with a maternally-inherited Xq28 duplication
1
Case fulfilled the diagnostic criteria for ASD (based on ADOS-M3 and ADI-R assessment) and ADHD (based on SNAP-IV assessment)
9 years 8 months
Male
260000
0
1
1
hu_22_ASD_discovery_cases
Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.
573
Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.
Range, 16 mos.-12.8 yrs. (mean, 3.6 yrs)
80.1% Male
203661
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
517227
7
1
8
jiao_19_EP/DD/ID_discovery_cases
Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
220
Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
Range, 1 mo.- 14 yrs.
60.45% Male
3970000
1
1
2
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
6166014
26
42
68
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
5000000
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
282191
0
9
9
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
24496
2
0
2
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
559483
0
2
2
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
481051
1
0
1
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
242855
0
4
4
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
356708
0
1
1
lengyel_20_ASD/DD/ID_discovery_cases
Children referred to genetic counseling with a combination of non-syndromic minor craniofacial anomalies, mild to moderate ID/DD, and other variable neuropsychiatric symptoms
73
Cases presented with a combination of non-syndromic minor craniofacial anomalies, mild to moderate ID/DD, and other variable neuropsychiatric symptoms, including autism spectrum disorder
N/A
N/A
110790
2
0
2
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
29000
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
203218
0
1
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
464646
0
1
1
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
147103
0
1
1
li_17_ASD/ID/EP_discovery_cases
Four affected family members from a multi-generational Chinese pedigree with familial MECP2 duplication syndrome
4
All four cases present with ASD and intellectual disability; 3/4 also present with epilepsy/seizures
Range, 2 yrs. 6 mos.-25 yrs.
Male
550000
0
4
4
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
688554
0
2
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
1180000
1
8
9
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
505449
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
470640
1
1
2
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
35652
1
0
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
87000
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
542218
4
3
7
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
363875
0
4
4
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
556274
4
4
8
riquin_23_DD_discovery_cases
Individuals with suspected neurodevelopmental disorders (NDD) from the University Hospitals of Western France (HUGO network) screened by genome sequencing for CNVs not detected by exome sequencing or array-CGH.
33
All individuals presented with non-syndromic developmental delay (DD) and/or intellectual disability (ID).
NA
NA
1146
1
0
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
546102
1
2
3
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
499300
2
0
2
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
461799
0
6
6
sakai_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). Probands with CNVs were also identified in Levy et al. 2011 CNV report.
288
High-functioning probands (average IQ, 80.94) diagnosed with idiopathic ASD and with no signs of syndromic disorders on physcial examination or brain imaging.
200000
0
1
1
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
301650
27
51
78
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
442000
1
1
2
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
133000
0
1
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
11032
0
1
1
stettner_11_ID/ASD_discovery_cases
Second & third children of healthy, non-consanguineous parents
2
Mild intellectual disability, severe behavioral problems, and autistic features. No formal diagnosis of autism/ASD.
Range, 10 yrs. 4 mos.-11 yrs. 7 mos.
100% Male
145000
2
0
2
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
3793051
0
1
1
tropeano_16_ASD/NDD_replication_cases
Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)
18857
Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.
N/A
BBGRE cohort, 67% Male; Hospit
3266066
0
1
1
tropeano_16_ASD_discovery_cases
ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
90
Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
Adult age (20 yrs.+)
N/A
500378
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)
5030000
0
1
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
94404
1
0
1
vanmarsenille_13_ID/SCZ_discovery_cases
Four male patients with non-syndromic X-linked intellectual disability: two affected brothers from Family T61; one ID patient from a cohort of 2222 sporadic male patients with ID referred for diagnosis in Leuven (Belgium); and one ID patient from a cohort of 750 ID patients from Tartu (Estonia).
4
All four cases presented with mild to moderate intellectual disability (ID) and behavioral problems; one case with an additional DSM-IV diagnosis of schizophrenia (SCZ)
Range, 3-29 yrs.
Male
500000
0
5
5
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
293575
1
0
1
willemsen_12_DD/ID_discovery_cases
Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
4407
Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
2/3 of cases: age range of 1-18 yrs.
54.5% Male
1300000
1
3
4
xu_12_ASD_discovery_cases
Affected male, who was identified as part of a screen for MECP2 CNVs consisting of 53 unrelated male subjects diagnosed with ASD using DSM-IV, and his brother.
2
Diagnosis of ASD/autistic disorder based on meeting ADOS criteria and DSM-IV.
Range, 9 yrs. 5 mos.-18 yrs.
Male
2220000
0
2
2
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
1089000
0
1
1
yon_17_ASD/ID/EP_discovery_cases
A sibship of affected brothers with a Xq28 duplication inherited from their less severely affected mother
2
Both cases were diagnosed with autistic spectrum disorder (ASD) in accordance with DSM-V. Diagnosis of severe intellectual disability for both cases was based on the mental developmental index of the Bayley Scales of Infant Development test II (BSID II). Both cases also present with generalized hypotonia, recurrent infections, epilepsy, choreiform movements, and moderate increased spasticity of the lower limbs.
Range, 10-11 yrs.
Male
411000
0
2
2
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
2456
1
0
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
496999
1
2
3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
286163
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
addis_15_ASD_replication_controls
Controls from the Ottawa Heart Institute (n=1234), POPGEN (N=1123), the Ontario Population Genomics Platform (n=416), HapMap3 (n=1056), and the Autism Genome Poject (n=2640)
6469
Control
N/A
N/A
N/A
N/A
N/A
N/A
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
4677
1
0
1
cukier_12_ASD_discovery_controls
Healthy children recruited as controls
288
Healthy children. Exclusion criteria: presence of developmental, behavioral, or neurological conditions, or first degree relatives with such disorders.
Range, 4-21 yrs.
59.7% Male
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
694106
3
32
35
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.
212595
0
2
2
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
282191
1
7
8
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
40506
1
0
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
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
0
0
0
0
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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
N/A
N/A
N/A
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
94735
1
0
1
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)
556274
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.
484177
30
25
55
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
133000
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
addis_15_ASD_replication_cases
Europe and Canada
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
PennCNV, iPattern, QuantiSNP, Birdsuite, iPattern, Affymetrix Genotyping Console
qPCR, another method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
bartnik_12_EP_discovery_cases
Poland
aCGH
Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
BCM web-based software, IMiD-web2py
FISH
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
bitar_19_ASD_discovery_cases
Lebanon
aCGH
Agilent SurePrint G3 2x400K
ADM-2
Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
qPCR
brandler_16_ASD_discovery_cases
N/A
WGS
Illumina HiSeq
ForestSV
gtCNV
Solid phase hybridization (Illumina 2.5M)
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
brunet_21_NDD_discovery_cases
European
WES
Illumina NovaSeq6000, Illumina HiSeq4000
ExomeDepth, Pindel
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent 4x180K or 8x60K)
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
chong_14_DD/ID/ASD/MCA_discovery_cases
Chinese
aCGH
High-resolution 180K oligoarray
aCGH (NimbleGen)
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
cukier_12_ASD_discovery_cases
202 European, 85 African
Array SNP, qPCR
qPCR [two Taqman copy number assays within each of five genes (MBD5, MBD6, SETDB1, SETDB2, and MECP2) selected from predesigned assays from Applied Biosystems], Illumina Human 1M Beadchip
PennCNV
CopyCaller Software 1.0
Array SNP
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
du_21_ASD/DD/ID/EP_discovery_cases
United States
Solid phase hybridization
Illumina CytoSNP-850Kv1.2 BeadChip
NA
Illumina Genome Studio V2009.2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
firouzabadi_16_ASD_discovery_cases
Iranian
aCGH
BlueGnome CytoChip ISCA 8x60K v2.0
BlueFuse Multi v3
qPCR
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
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
None
gardner_21_DD_discovery_cases
NA
NA
NA
NA
NA
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
guo_19_DD/ID_discovery_cases
China
NGS
Illumina HiSeq 2500
m-HMM
FASTQ v.0.18.1
None
hanchard_12_ASD_discovery_cases
Caucasian
aCGH
Custom Agilent 4X44K microarray
FISH, MLPA
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
hu_18_ASD/ADHD_discovery_cases
Chinese
aCGH
Agilent SurePrint G3 Human CGH 4x180K
qPCR
hu_22_ASD_discovery_cases
China
Targeted gene panel sequencing
Illumina HiSeq X10
CANOES, HMZDelFinder
PICNIC, AnnotSV
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
PCR, qPCR
jiao_19_EP/DD/ID_discovery_cases
China
WGS
Low-coverage whole genome sequencing
Illumina BclToFastq
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS
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_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
lengyel_20_ASD/DD/ID_discovery_cases
Hungarian
aCGH
NimbleGen Array CGX 1.4M, Agilent 60K, Agilent 180K
NimbleGen MS 200 Microarray Scanner, Agilent Genomic Workbench v.7.0, Agilent Genomic Workbench Lite
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
li_17_ASD/ID/EP_discovery_cases
Chinese
aCGH, MLPA
Agilent 4x180K
FISH
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
riquin_23_DD_discovery_cases
France
WGS
Illumina HiSeq X5
NA
GATK v.4.1.4.1
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sahoo_11_DD_discovery_cases
NA
aCGH
SignatureChipOS v1.0 105K array, SignatureChipOS v2.0 135K array
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sakai_11_ASD_discovery_cases
aCGH
Agilent 4x44K
aCGH (CMA BAC V8.1, Baylor MGL)
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
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
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
stettner_11_ID/ASD_discovery_cases
German/European
aCGH, MLPA
Agilent 244K
None
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
None
tropeano_16_ASD/NDD_replication_cases
United Kingdom and Canada
aCGH
Agilent 60K, OGT Cytosure 4x180K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
None
tropeano_16_ASD_discovery_cases
United Kingdom
aCGH
Agilent 60K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench
MLPA, aCGH
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
vanmarsenille_13_ID/SCZ_discovery_cases
2 Caucasian, 1 Belgian, 1 Estonian
aCGH, solid phase hybridization, qPCR
BACs aCGH, Illumina HumanCNV370
qPCR
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
None
xu_12_ASD_discovery_cases
Chinese Han
Multiplex competitive amplication
Custom-designed Multiplex Accucopy kit
qPCR, aCGH
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
yon_17_ASD/ID/EP_discovery_cases
Korea
MLPA
SALSA MLPA P245 Microdeletion Syndromes-1, ABI Prism 3130XL
GeneMaker v1.95
Array SNP (Affymetrix CytoScan HD)
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
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
addis_15_ASD_replication_controls
Primarily European and Canadian
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M
PennCNV, iPattern, QuantiSNP, Birdsuite, iPattern, Affymetrix Genotyping Console
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
cukier_12_ASD_discovery_controls
198 European, 90 African
qPCR
qPCR: two Taqman copy number assays within each of five genes (MBD5, MBD6, SETDB1, SETDB2, and MECP2) selected from predesigned assays from Applied Biosystems; all samples tested in quadruplicate.
CopyCaller Software 1.0
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
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
addis_15_ASD_replication_cases-caseMM1259-003
N/A
F
ASD
Autism, langauge delay; delayed first words (at 21 months), mild developmental delay, motor delay, no seizures
155542680
155546290
3611
GRCh38
Deletion
Yes
addis_15_ASD_replication_cases-caseMM1259-004
N/A
F
ASD
Autism, language delay; delayed first words (at 18 months), delayed first phrases (at 36 months), expressive language problems, mild developmental delay, motor delay, no seizures
155542680
155546290
3611
GRCh38
Deletion
Yes
asadollahi_14_NDD_discovery_cases-case56761
5 yrs.
M
Developmental delay
Global developmental delay, prominent speech delay, cryptorchidism
155804020
155960392
156373
GRCh38
Deletion
Yes
bartnik_12_EP_discovery_cases-case8
NA
M
Epilepsy and developmental delay
Age of onset of epilepsy: 1 month. Seizure types/epilepsy syndrome: West syndrome evolving into epilepsy with focal seizures with hypsarrythmia in EEG. Dysmorphic. Parental phenotype: normal.
Profound developmental delay.
149351373
149634864
283492
GRCh38
Duplication
No
bartnik_12_EP_discovery_cases-case8
NA
M
Epilepsy and developmental delay
Age of onset of epilepsy: 1 month. Seizure types/epilepsy syndrome: West syndrome evolving into epilepsy with focal seizures with hypsarrythmia in EEG. Dysmorphic. Parental phenotype: normal.
Profound developmental delay.
150638744
155650820
5012077
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case75
4 yrs. 4 mos.
F
Borderline DD/ID
Autism: no. Epilepsy: no. Dysmorphic features: yes. Karyotype: Robertsonian 13;14 translocation at amniocentesis.
Borderline DD/ID
149022491
149541899
519409
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case77
11 yrs. 4 mos.
F
Developmental delay/intellectual disability and epilepsy
Autism: no. Epilepsy: yes. Dysmorphic features: yes.
Moderate DD/ID
154344193
154475638
131446
GRCh38
Duplication
Yes
bitar_19_ASD_discovery_cases-case91
N/A
M
ASD and epilepsy
Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: fear, anxiety, self-injurious behavior. Epilepsy/seizures: epilepsy. Additional medical history: deafness. Family history: born to consanguineous parents (first degree cousins); history of diabetes on both sides of the family, as well as hypertension, high cholesterol, and cardiac disease on the paternal side of the family.
149232720
149572490
339771
GRCh38
Duplication
Yes
brandler_16_ASD_discovery_cases_caseREACH000145
N/A
M
ASD
Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician
149600637
149655082
54446
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseREACH000145
N/A
M
ASD
Case from REACH cohort
149573217
149662381
89165
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseREACH000704
N/A
F
Anxiety, ADHD, and dyslexia
Case from REACH cohort
154887176
155319288
432113
GRCh38
Duplication
Yes
brandler_18_ASD_discovery_cases-caseSSC05124
N/A
M
ASD
Case from SSC_phase1 cohort
154456630
154461314
4685
GRCh38
Deletion
Yes
bremer_11_ASD_discovery_cases-case12
4
M
ASD
Non-syndromic ASD, sporadic case
MR (IQ<70)
153875028
154240203
365176
GRCh38
Duplication
Yes
brunet_21_NDD_discovery_cases-case115
13.3 yrs.
M
Developmental delay and epilepsy/seizures
Developmental milestones: global developmental delay (HP:0001263). Epilepsy/seizures: seizures (HP:0001250). Brain imaging: cerebral atrophy (HP:0002059). Additional medical history: recurrent respiratory infections (HP:0002205), Dysmorphic features: square face (HP:0000321), strabismus (HP:0000486), wide nasal bridge (HP:0000431) enlarged naris (HP:0009931), high palate (HP:0000218), abnormal facial shape (HP:0001999). Growth parameters: tall stature (HP:0000098), macrocephaly (HP:0000256).
153918831
154230786
311956
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11000
NA
M
ASD
NA
NA
155541079
155554913
13835
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11443
NA
M
ASD
NA
NA
154629061
154652962
23902
GRCh38
Deletion
Yes
chaves_19_ASD/DD/ID_discovery_cases-case151
N/A
M
Developmental delay
Short stature, facial dysmorphism, intrauterine growth retardation, and developmental delay
152187644
156004066
3816423
GRCh38
Duplication
No
chaves_24_ASD/DD/ID_discovery_cases-case574
F
Umbilical cord hernia, macrocephaly. Karyotype: 45X,der(X)t(X;15)(q28;q11.2),-15.
154926683
156004066
1077384
GRCh38
Deletion
No
chaves_24_ASD/DD/ID_discovery_cases-case809
M
ASD
ASD and congenital anomalies.
153858424
154392714
534291
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case31
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
155168715
155197407
28693
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case34
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
155168715
155197407
28693
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case63
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
155168715
155197407
28693
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case68
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
155168715
155197407
28693
GRCh38
Deletion
No
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1293
N/A
F
Developmental delay
Mild developmental delay, dysmorphic features, multiple congenital anomalies (MCA), hypotonia. Family history: none reported.
Mild developmental delay
152789896
153967167
1177272
GRCh38
Duplication
Yes
cucinotta_23_ASD_discovery_cases-case15
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
150347412
151088288
740877
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case396
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
155168715
155197407
28693
GRCh38
Deletion
No
cukier_12_ASD_discovery_cases-case39283-0001
NA
M
Autism
Developmental milestones: significant motor delays. Language and communication evaluation: nonverbal. Motor evaluation: significant motor delays. Epilepsy/seizures: non-febrile generalized seizures. Other features: history of allergies. Family history: brother who did not meet criteria for autism but presented with global developmental delay, intellectual disability, and allergies (brother also carries MECP2 duplication); mother with three miscarriages; maternal history positive for infertility in three siblings and cystic fibrosis in two female siblings.
Mental retardation
153723110
153977113
254004
GRCh38
Duplication
No
cukier_12_ASD_discovery_cases-case39283-0001
NA
M
Autism
Developmental milestones: significant motor delays. Language and communication evaluation: nonverbal. Motor evaluation: significant motor delays. Epilepsy/seizures: non-febrile generalized seizures. Other features: history of allergies. Family history: brother who did not meet criteria for autism but presented with global developmental delay, intellectual disability, and allergies (brother also carries MECP2 duplication); mother with three miscarriages; maternal history positive for infertility in three siblings and cystic fibrosis in two female siblings.
Mental retardation
154013042
154104159
91118
GRCh38
Duplication
Yes
davis_09_ASD_discovery_cases-AU019705
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
153076233
154353200
1276967
Unknown
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299916
N/A
M
Developmental delay/intellectual disability
154892463
155331063
438601
GRCh38
Duplication
Yes
du_21_ASD/DD/ID_discovery_cases-case198
12 yrs.
M
ASD and epilepsy
Macrocephaly, epilepsy, autism
153396763
154295994
899232
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14022_460
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
153074812
153251490
176679
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14216_3470
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
154381603
154592944
211342
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16036_1571014001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149675472
149899942
224471
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16048_1571101001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149604380
149654460
50081
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16067_1571134001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149653630
149781364
127735
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16067_1571134001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149916980
150341430
424451
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16090_1571122001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149617109
149740928
123820
GRCh38
Duplication
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)
154357486
154640328
282843
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case20081_1370001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
153091961
153251490
159530
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20128_4016001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149613262
149675472
62211
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20162_1653001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149797915
149916980
119066
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2055_2
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149800897
149899942
99046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3491_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
153059876
153251490
191615
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4166_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
152701267
152886187
184921
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4349_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149800897
149899942
99046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4350_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149800897
149899942
99046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4354_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149454601
149818465
363865
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4531_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149800897
149899942
99046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4548_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149800897
149899942
99046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5036_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149186160
149728078
541919
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5286_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149604380
149654460
50081
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5352_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
152892328
153123667
231340
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5432_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
153074812
153251490
176679
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6010_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149800897
149899942
99046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6109_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149797915
149902009
104095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6175_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
155559522
155632326
72805
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6367_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149800897
149899942
99046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8437_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149797915
149916980
119066
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8454_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
151794478
151843728
49251
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8605_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149541156
149830897
289742
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8723_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
154153043
154302066
149024
GRCh38
Duplication
No
firouzabadi_16_ASD_discovery_cases-patient2
9 yrs
F
ASD
Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Additional medical history: hearing loss, failure to thrive. Growth parameters: microcephaly (head circumference <-3 SD).
Severe intellectual disability
153630433
153722529
92097
GRCh38
Deletion
Yes
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263985
N/A
M
Dysmorphic features
Drooling; Unsteady gait; Abnormal facial shape; Lactose intolerance
154337491
155492768
1155278
GRCh38
Duplication
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR198
19 yrs.
M
ASD, intellectual disability and epilepsy
Clinical features: severe intellectual disability, ASD, mild right hemiparesis. Age of seizure onset: 7 months. Epilepsy syndrome: Lennox-Gastaut syndrome. Seizure types: focal epilepsy, infantile spasms, absence seizures, non-convulsive status epilepticus, generalized tonic-clonic seizures, atonic seizures, focal dyscognitive seizures.
Severe intellectual disability
151421458
151643449
221992
GRCh38
Deletion
No
gardner_21_DD_discovery_cases-caseDECIPHER279220
NA
F
Developmental delay
Case deposited in DECIPHER (DECIPHER ID 279220). Developmental milestones: delayed speech and language development, global developmental delay. Motor and musculoskeletal evaluation: muscular hypotonia. Additional medical history: hemangioma, conductive hearing impairment. Dysmorphic features: mandibular prognathia, thick lower lip vermillion, thick upper lip vermillion.
154024848
154046965
22118
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case493-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
154594625
154615204
20580
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case511-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
148407709
148448032
40324
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case519-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
154143456
154173293
29838
GRCh38
Duplication
No
guo_19_DD/ID_discovery_cases-case21
18 mos.
M
Intellectual disability
Motor deterioration, intellectual disability, loss of speech, abnormality of the voice, weak cry, abnormality of the musculature, appendicular hypotonia, hypotonia
Intellectual disability
153966649
154313750
347102
GRCh38
Duplication
No
hanchard_12_ASD_discovery_cases-case1
6 yrs.
F
PDD-NOS
Formal autism evaluation using Gilliam Autism Rating scales (GARS) consistent with diagnosis of PDD-NOS. Developmental milestones: presented at 3 years 10 months after mild delays in fine and gross motor development, with loss of speech and significant behavioral problems including ADHD and aggression. Also had hyperacusis, sensitivity to textures, and poor eye contact. Language and communication evaluation: limited vocabulary with difficulties in speech articulation at 6 years of age. Epilepsy/seizures: developed focal onset seizures and was diagnosed with epilepsy; at 6 years, seizures were medically refractory. Dysmorphic features: smooth philtrum, double ear crus, over-folded helix, bilateral 5th finger clinodactyly, talus rotation. Growth parameters: proportionally large for age (height, 75th-90th %ile; weight, 97th %ile; head circumference, 98th %ile). Family history: father (carries Xq28 duplication) with speech and cognition problems in childhood and epilepsy; mother had problems with cognitive processing and executive functioning; brother with sleep disturbances, ADHD, and ASD; maternal half-brother with sleep problems and ADHD (mother, brother, and maternal half-brother all carry 4q35.2 duplication).
Problems with cognitive processing
NA
NA
194000
NCBI36
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-case15D2529
3 yrs. 8 mos.
M
Developmental delay/Intellectual disability
Absent speech
153934611
154395874
461264
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case15D3767
18 mos. 5 days
M
Developmental delay
153796272
154173293
377022
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case16D1672
6 yrs. 1 mo.
F
Developmental delay/Intellectual disability
Speech delay
153718751
153821089
102339
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseY29
3 yrs. 3 mos.
M
ASD, developmental delay, and intellectual disability
Motor developmental delay
Intellectual disability
153854962
154299735
444774
GRCh38
Duplication
No
hnoonual_17_ASD_discovery_cases-caseRA32
N/A
M
ASD and intellectual disability
No additional clinical features
Intellectual disability
149005414
149210161
204748
GRCh38
Deletion
No
hnoonual_17_ASD_discovery_cases-caseRA6
N/A
M
ASD and intellectual disability
No additional clinical features
Intellectual disability
155506037
155864471
358435
GRCh38
Duplication
No
hu_18_ASD/ADHD_discovery_cases-case1
9 yrs. 8 mos.
M
ASD and ADHD
Case fulfilled the diagnostic criteria for ASD (based on ADOS-M3 and ADI-R assessment; scores for both were above the cutoff) and ADHD (based on SNAP-IV assessment). Birth/neonatal history: born full-term after a normal pregnancy by caesarean section; birth weight of 2800 g; hospitalized twice during neonatal period (once for pathological jaundice at 2 months, again for hernia at 8 months). Developmental milestones: walking unsupported at 15 months. Language and communication evaluation: poor language comprehension and difficulty in maintaining normal conservation with normal eye contact; weak in language comprehension at 9 years 8 months. Motor and musculoskeletal evaluation: poor motor coordination and slight hypotonia at 15 months. Behavioral/psychiatric evaluation: repetitive patterns of behavior, deficits in social reciprocity, impulsivity, attention deficit. Additional medical history: asthma at age of 3-4 years, which improved with continued allergic rhinitis; abnormal serum free fatty acid levels (875 and 1165 umol/L at 9 and 10 years, respectively; normal levels are 172-588 umol/L in age-matched healthy children). Dysmorphic features: depressed nasal bridge, thick and drooping upper eyelids. Family history: mother who also carried the Xq28 duplication exhibited a quick temper and irritability, may have suffered from postpartum depression, and exhibited some of the ASD phenotype (score for Broader Autism Phenotype Questionnaire was high-normal); father had moderate temperament and was otherwise normal; maternal grandparents were cousins; both families declared no significant health or psychological issues.
Verbal IQ 96, performance IQ 90, and full scale IQ 92 on Wechsler Intelligence Scale for Children (WISC); normal cognition with high score for calculation but a low score for comprehension.
152700431
152960756
260326
GRCh38
Duplication
Yes
hu_22_ASD_discovery_cases-case4
NA
M
ASD
Case met criteria for ASD using DSM-5.
154348529
154552189
203661
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case23
4 yrs.
M
Developmental delay/intellectual disability
Facial dysmorphisms, high-arched palate, congenital dislocation of the hip. Karyotype: 1phqh.
Developmental delay/intellectual disability
153864545
154418888
554344
GRCh38
Duplication
Yes
iourov_12_ASD/ID/EP_discovery_cases-case32
9 yrs. 10 mos.
F
Autism and intellectual disability
Autism, multiple hematomas, teeth anomalies. Karyotype: 1phqh, 9phqh.
Intellectual disability
153880345
154035970
155626
GRCh38
Deletion
Yes
iourov_12_ASD/ID/EP_discovery_cases-case35
11 yrs.
F
Autism and epilepsy
Autism, speech delay, seizures, facial dysmorphisms
Cognitive delay
153880345
154035970
155626
GRCh38
Deletion
Yes
iourov_12_ASD/ID/EP_discovery_cases-case48
4 yrs.
M
Autism and intellectual disability
Autism. Karyotype: 9phqh.
Intellectual disability
155258627
155428262
169636
GRCh38
Deletion
Yes
iourov_12_ASD/ID/EP_discovery_cases-case49
4 yrs. 10 mos.
F
Developmental delay/intellectual disability
Facial dysmorphisms, clinodactyly, dentinogenesis imperfecta, enteroparesis. Karyotype: 9phqh, 17ps.
Developmental delay/intellectual disability
153843228
154036066
192839
GRCh38
Deletion
Yes
iourov_12_ASD/ID/EP_discovery_cases-case50
4 yrs.
F
Developmental delay/intellectual disability and autism
Autism, Rett syndrome-like phenotype
Developmental delay/intellectual disability
154169630
154648041
478412
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case51
1 yr. 10 mos.
F
Developmental delay
Speech delay, facial dysmorphisms.
Developmental delay
153466473
153672116
205644
GRCh38
Deletion
Yes
iourov_12_ASD/ID/EP_discovery_cases-case51
1 yr. 10 mos.
F
Developmental delay
Speech delay, facial dysmorphisms.
Developmental delay
154169630
154381014
211385
GRCh38
Deletion
Yes
jiao_19_EP/DD/ID_discovery_cases-case63576
3 yrs. 6 mos.
Male
DD and ID
Developmental milestones: global developmental delay, delayed speech and language development. Motor and musculoskeletal evaluation: motor deterioration, facial paralysis.
Intellectual disability
153966649
154343732
377084
GRCh38
Duplication
No
jiao_19_EP/DD/ID_discovery_cases-caseDD18009846
2 yrs. 3 mos.
Female
DD and epilepsy/seizures
Developmental milestones: global developmental delay. Epilepsy/seizures: seizures (febrile seizures).
152018591
155922436
3903846
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000357
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
149989929
156022206
6032278
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000638
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155717169
155912362
195194
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000852
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153929344
154367160
437817
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000911
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155980375
156010307
29933
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000913
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
149849581
156022206
6172626
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000933
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
150036146
156022206
5986061
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001028
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
154791149
154931411
140263
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001032
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155678751
155951918
273168
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001120
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
156001591
156022206
20616
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001144
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155980375
156013167
32793
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001146
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155980375
156013167
32793
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001152
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155998122
156022206
24085
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001154
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155998122
156013167
15046
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001157
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155998122
156013167
15046
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001167
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155782123
155967288
185166
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001168
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155980375
156022206
41832
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001173
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155980375
156022206
41832
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001180
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155998122
156022206
24085
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001194
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
156001591
156022206
20616
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001231
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155998122
156022206
24085
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001243
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155998122
156022206
24085
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001256
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155998122
156022206
24085
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001689
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
154394598
154554969
160372
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001693
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
154984506
155098444
113939
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001726
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
154336596
154642063
305468
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001745
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153769547
154394658
625112
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001766
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153590730
154380801
790072
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001800
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153769547
154394658
625112
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001862
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
151462349
156028048
4565700
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001867
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
154394598
154626056
231459
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001868
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
154984506
155098444
113939
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001869
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
154984506
155098444
113939
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001912
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153787044
154397779
610736
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001924
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
150449408
150750615
301208
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001974
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153777340
154397779
620440
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001978
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
154791149
155996431
1205283
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002028
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155745005
155996431
251427
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002092
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153504314
154144797
640484
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002187
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155007151
155491717
484567
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002386
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155828359
155979369
151011
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002606
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
152795555
152912145
116591
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002685
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
149493233
149500929
7697
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002693
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153667032
153817949
150918
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002777
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153395425
155687381
2291957
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002790
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
154897608
155335682
438075
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002799
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
149352525
149532248
179724
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003986
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153932045
155611794
1679750
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004018
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153296806
155699618
2402813
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004046
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
149722144
150242706
520563
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004130
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155123270
156022362
899093
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004283
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
152728537
153047281
318745
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004341
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153975736
156022206
2046471
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004382
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
152728537
153047281
318745
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004408
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155717169
156022206
305038
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004417
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
154348522
154594454
245933
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004469
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
149429424
149617725
188302
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004558
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155678751
155951918
273168
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004572
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
154022066
154092314
70249
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004604
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
154931352
155331063
399712
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004833
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
152426479
156022206
3595728
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004852
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
149570094
150326225
756132
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004860
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153714542
154380803
666262
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004949
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
152932818
156022206
3089389
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005022
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
152728537
153047281
318745
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005057
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153722500
154367160
644661
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005159
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
149722144
150079450
357307
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005231
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153585420
154427385
841966
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005404
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153047222
156022206
2974985
GRCh38
Duplication
Yes
kim_18_DD/ID_discovery_cases-case3
8 mos.
M
Developmental delay
Dysmorphic features, macrodactyly, hypotonia, intestinal pseudobstruction, chylothorax
Severe developmental delay
150818763
156003433
5184671
GRCh38
Duplication
No
kim_18_DD/ID_discovery_cases-case4
12 yrs. 10 mos.
M
Developmental delay/intellectual disability and epilepsy
Absent speech, dysmorphic features, epilepsy
Severe developmental delay/intellectual disability
153651334
154156363
505030
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case11193.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
149603986
149611463
7478
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11569.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
154783416
155054685
271270
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11704.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
153150559
153273226
122668
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11733.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
153150559
153273226
122668
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12798.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
151716119
151744498
28380
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13322.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
149482745
149764806
282062
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13405.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
155071527
155216575
145049
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13511.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
153336679
153465055
128377
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13762.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
149603986
149611463
7478
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ0186
62 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 26 years of age (core symptoms include auditory hallucinations, delusions, negative symptoms, cognitive decline). Physical comorbidities: pneumonia, paralytic ileus. Family history: negative.
IQ > 70
155531678
155556173
24496
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2140
74 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
155530103
155550495
20393
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD1265
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
153831978
154391460
559483
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD1266
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
153890370
154391460
501091
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD1289
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
154884155
155365205
481051
GRCh38
Deletion
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case10
16 yrs.
M
Developmental delay and multiple congenital anomalies
Developmental delay, multiple congenital anomalies
153662075
153737423
75349
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case17
7 yrs.
M
Intellectual disability
Multiple neuromuscular problems
Intellectual disability
153901808
153923659
21852
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case27
10 yrs.
F
Developmental delay and epilepsy
Developmental delay, epilepsy
153500141
153743000
242860
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case40
6 yrs.
M
Intellectual disability
Intellectual disability
153662075
153727870
65796
GRCh38
Duplication
No
leite_22_DD/ID_discovery_cases-case021
1 yr.
M
Developmental delay
Global developmental delay
154564492
154921199
356708
GRCh38
Duplication
No
lengyel_20_ASD/DD/ID_discovery_cases-case10
N/A
M
ASD and ADHD
Case reported in DECIPHER database (DECIPHER ID 411577). Birth/neonatal history: born at term (40 weeks) with birth weight of 4500 grams and length of 56 cm; Apgar scores 9/10; clavicle fractures during delivery. Developmental milestones: motor delay. Language and communication evaluation: speech articulation difficulties. Motor and musculoskeletal evaluation: scoliosis; joint hypermobility; 2-3 toe syndactyly; clinodactyly of the fifth fingers. Behavioral/psychiatric evaluation: diagnoses of ASD and ADHD; impaired ability to form peer relationships, abnormal temper tantrums. Brain imaging: normal brain MRI. EEG: frontotemporal epileptic lesions. Hearing evaluation: sensorineural hearing impairment. Additional medical history: anal stensois, tracheal stenosis. Family history: mother and three brothers are dyslexic (one brother also has unilateral hearing impairment and unilateral renal hypoplasia).
154144291
154255080
110790
GRCh38
Deletion
No
lengyel_20_ASD/DD/ID_discovery_cases-case3
3 yrs.
M
Developmental delay and intellectual disability
Case reported in DECIPHER database (DECIPHER ID 411594). Birth/neonatal history; born at 40 weeks gestation; oligohydramnios; birth weight 2860 grams, birth length 54 cm; Apgar scores 8/10; high-pitched cry; feeding difficulties due to severe muscular hypotonia. Developmental milestones: delayed speech and language development (expressive > receptive). Motor and musculoskeletal evaluation: polydactyly; gait imbalance; joint hypermobility; genu valgum; pes planus; single transverse palmar crease. Behavioral/psychiatric evaluation: impaired ability to form peer relationships. Additional medical history: mild conductive hearing loss. Dysmorphic features: blepharophimosis, small and low-set ears with abnormal morphology, single transverse palmar crease.
Intellectual disability
154144291
154255080
110790
GRCh38
Deletion
No
lesca_12_EP_discovery_cases-case10-114
NA
M
Epilepsy + autistic features
Phenotype: s-CSWSS. Seizure Characteristics: GTCS when falling asleep. Autistic features: Yes (severe). ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: No.
155168716
155197407
28692
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11092.p1
NA
M
ASD
NA
NA
154348322
154551692
203371
GRCh38
Duplication
No
lintas_17_ASD_discovery_cases-case1.3
8 yrs.
M
Autism
Low-functioning ASD, non-verbal
153436760
153901410
464651
GRCh38
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case25
N/A
M
Non-NDD
Karyotyping: 46,XY,t(5;11)(p12;p15.4).arr Xq28(153,473,411-153,620,513)x3-UCS, 9q33.1(118,814,591-118,867,559)x3-UCS-LB.
154591954
154739044
147091
GRCh38
Duplication
No
li_17_ASD/ID/EP_discovery_cases-caseIII:16
11 yrs. 2 mos.
M
ASD, intellectual disability, and epilepsy
Case was diagnosed with ASD based on DSM-5 criteria. Birth/neonatal history: polyhydramios; birth weight of 3900 g (> 90th %ile). Developmental milestones: developmental delay noted at 5 months; raised head at 8 months, walked independently at 2 years, said "Mama" or "Papa" at 3 years; developmental regression noticed after first seizure attack at age of 2 years. Lanaguge and communication evaluation: speech delay; unable to speak any comprehensible phrase at 11 years of age. Motor and musculoskeletal evaluation: unable to run steadily at 11 years of age; central hypotonia. Behavioral/psychiatric evaluation: no eye contact; delayed development in peer relationships; lack of social/emotional reciprocity; stereotyped movements (hand flapping, looking at his hands, biting his fingers). Epilepsy/seizures: seizure onset at 2 years; seizure types include generalized tonic-clonic seizures. Brain imaging: corpus callosum dysplasia on brain MRI. Additional medical history: feeding difficulties; recurrent respiratory infections; refractory constipation with bowel movement. Dysmorphic features: midface hypoplasia, long face, downslanting palpebral fissures, epicanthus, small mouth, jaw protrusion, low-set ears, large ear lobes and creases. Family history: born to healthy non-consanguineous parents; similarly affected older brother (III:16) who died of a central nervous system infection at 16 years of age (DNA sample not available for testing); three other male family members (III:6, IV:1, and IV:2) with MECP2 duplication that were diagnosed with ASD and presented with similar clinical phenotypes; female family member (IV:4) that presented with developmental delay, hypotonia, recurrent respiratory infections, absence of eye contact, and generalized tonic-clonic seizures prior to death from severe pnuemonia and myocarditis at 2 years (DNA sample not available for testing).
Intellectual disability
153790599
154377968
587370
GRCh38
Duplication
Yes
li_17_ASD/ID/EP_discovery_cases-caseIII:6
25 yrs.
M
ASD, intellectual disability
Delayed developmental milestones (sitting at over 2 years at age, walking at over 2 years of age), hypotonia, ASD, poor-to-no eye-to-eye contact, delay in developmental of peer relationships, lack of or delay in speech, stereotyped hand movements, lack of social or emotional reciprocity, constipation, feeding difficulties, seizures (onset at 7 years, seizure types include generalized tonic-clonic seizures, myoclonic seizures, nodding attack, and drop attack), recurrent respiratory infections
Intellectual disability
N/A
N/A
N/A
Unknown
Duplication
No
li_17_ASD/ID/EP_discovery_cases-caseIV:1
14 yrs. 6 mos.
M
ASD, intellectual disability
Delayed developmental milestones (head control at 3-4 months, sitting at 8 months, walking at 3 years), hypotonia, ASD, poor-to-no eye-to-eye contact, delay in developmental of peer relationships, lack of or delay in speech, stereotyped hand movements, lack of social or emotional reciprocity, constipation, seizures (onset at 10 years, seizure types include generalized tonic-clonic seizures, myoclonic seizures, nodding attack, and drop attack), recurrent respiratory infections. Note: case now deceased.
Intellectual disability
153790599
154377968
587370
GRCh38
Duplication
No
li_17_ASD/ID/EP_discovery_cases-caseIV:2
2 yrs. 6 mos.
M
ASD, intellectual disability
Delayed developmental milestones (head control at 3- 4 months, sitting at 8 months, walking at 1 year 6 months), hypotonia, ASD, poor-to-no eye-to-eye contact, delay in developmental of peer relationships, lack of or delay in speech, stereotyped hand movements, lack of social or emotional reciprocity, constipation
Intellectual disability
N/A
N/A
N/A
Unknown
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case10
NA
F
OCD
Case diagnosed with obsessive compulsive disorder (OCD) at 31 years of age; case also presented with specific (isolated) phobias.
154765449
155454002
688554
GRCh38
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case11
NA
F
OCD
Case diagnosed with obsessive compulsive disorder (OCD) at 13 years of age.
154896077
155285628
389552
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case137
7 yrs.
M
ASD and language delay
Birth history: born at 40 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: positive for epilepsy and/or abnormal EEG. Additional medical history: cerebral malformations. Dysmorphic features: prominent ears. 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)
152790047
152875540
85494
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case138
10 yrs.
M
Psychiatric illness
Birth history: born at 38 weeks gestation following a pregnancy marked by pre-perinatal distress. Developmental milestones: no motor or language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: psychiatric illness. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Dysmorphic features: no reported dysmorphic features. 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)
154399732
154512101
112370
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown243
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
153281349
154498468
1217120
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown244
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
153961788
154649655
687868
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown245
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
153972867
154140900
168034
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown246
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)
154478059
154551923
73865
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown247
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)
154478059
154551923
73865
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown248
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)
155168516
155197548
29033
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown249
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 pathogenic (VOUS-LP)
154892263
155611935
719673
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0123-004
NA
M
ASD
Moderate language delay, very severe repetitive behavior, Hirschsprung disease
IQ 93
149186972
149681127
494156
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253606
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
155532584
156003220
470637
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-2765
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Ataxia, hypoplastic toes (including phalanges), intellectual disability/developmental delay, microcephaly, myopia, triangular face.
Developmental delay/intellectual disability
149608597
149646912
38316
GRCh38
Duplication
N/A
nord_11_ASD_discovery_cases-316-1
ASD
147404896
147440547
35652
Unknown
Deletion
No
oikonomakis_16_ASD_discovery_cases-case47
13 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, antimogoloid palpebral fissures, low set ears, short philtrum, cryptorchidism, stereotypic movements. Note: CNV start and end points extracted from Table 1 do not match up either with CNV locus or CNV gene content.
103499807
103820412
320606
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case14144_2420
NA
M
Autism
No language delay, no epilepsy, neurodevelopmental delay at 2 y, no dysmorphic features
Normal IQ
155686314
155699751
13438
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case14186_3050
NA
M
Autism
No language delay, no epilepsy, neurodevelopment delay, no dysmorphic features
Normal IQ
155686314
155699751
13438
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case14198_3220
NA
M
ASD
Phrase speech delay, no epilepsy, no dysmorphic features, myopia
Normal IQ
155686314
155699751
13438
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5036_4
NA
M
Autism
Below average language (1%ile), no epilepsy, no dysmorphic features; triplet with 2 nonASD brothers
Average nonverbal IQ (32%ile)
149186160
149728078
541919
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5286_3
NA
M
Autism
Below average language (1%ile), no epilepsy, no dysmorphic features
Below average nonverbal IQ (4%ile)
149604380
149654460
50081
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5432_3
NA
M
ASD
NA
NA
153074812
153251490
176679
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case6164_4
NA
F
Autism
Language delay, normal physical exam, normal brain MRI
Mild MR
153248612
153264501
15890
Unknown
Duplication
Yes
pinto_14_ASD_discovery_cases2-case20013_1075001
16 yrs.
M
ASD
Autism (ADI-R and ADOS positive), no language delay, no dysmorphic features, head circumference 1.43 SD, normal neurological exam, no seizures. Father's medical history: FSIQ 122, PIQ 116, VIQ 123, age at birth of child 24; evidence of social phobia (SADS), allergies, migraines; head circumference 58.3 cm, height 174.9 cm. Mother's medical history: FSIQ 122, PIQ 125, VIQ 117, age at birth of child 22; asthma, symptoms of depression (SADS), head circumference 53.5 cm, height 158.4 cm.
Normal IQ (WISC-III at 16 y: VIQ 93, PIQ 94, FSIQ 93).
154357486
154640328
282843
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case20128_4016001
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
149613262
149652965
39704
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case4166_1
7 yrs.
M
ASD
ASD (based on medical history and ADI-R, missed criteria by one point on repetitive domain), verbal but history of language delay; history of ear infections, inguinal hernia, hydrocele; normal physical exam. Family history: mother with inguinal hernia; father unaffected.
Borderline ID (Vineland Adaptive Behavior Composite score 72 at 7 y)
152701267
152886187
184921
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case4354_1
N/A
M
ASD
Autism (ADI-R and ADOS positive), language delay (first words 60 mo, first phrases 120 mo), verbal. Family history: N/A.
Moderate ID (PIQ 36)
149454601
149818465
363865
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case100676L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
151729935
151853805
123871
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case104196
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
148452644
149008917
556274
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case60536L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
148075288
148610134
534847
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case61183L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
153033330
153041286
7957
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case64380L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
154668574
154689587
21014
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68797
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
154667152
154689587
22436
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case91545L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
154880998
154888224
7227
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case91551L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
149939559
150084066
144508
Unknown
Duplication
No
riquin_23_DD_discovery_cases-case27
2-10 yrs.
M
Developmental delay and seizures
Developmental milestones: moderate global developmental delay, delayed speech and language development. Behavioral/psychiatric evaluation: abnormal behavior. Epilepsy/seizures: status epilepticus, seizures, infantile spasms. Brain imaging: hypoplasia of the corpus callosum. Additional medical history: recurrent singultus. Dysmorphic features: synophrys, fused teeth.
153691817
153692962
1146
GRCh38
Deletion
No
rosenfeld_10_ASD_discovery_cases-case20296
NA
NA
ASD
NA
NA
151700875
151966354
265479
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case23009
NA
NA
ASD
NA
NA
152731938
153061110
329172
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case9047
NA
NA
ASD
NA
NA
149484274
150030376
546102
Unknown
Deletion
Yes
sahoo_11_DD_discovery_cases-patient1
4 yrs. 2 mos.
M
Developmental delay
Developmental milestones: delayed speech (non-verbal at 16 mos.); development quotient at 16 mos. was 71, receptive communication -3 SD below mean; need for support for cognition, communication, social and adaptive developmental and motor skills determined at 3 yrs. 9 mos. Possible autism based on Gilliams Autism Rating Scale autism index of 94 (suggestive of a very high probability of autism). Limited speech (10-15 words, with occasional short word combinations), lack of expressive speech, receptive & expressive communications <1st %ile. Dysmorphic features: mild flattening of the occiput, prominent nasal tip, bilateral 5th finger clinodactyly. Normal cranial CT scan (2.5 mos.) and brain MRI (2 yrs. 9 mos.). Growth parameters: height, 92.7 cm (25th %ile); weight, 12.26 kg (5th-10th %ile); head circumference, 45.4 cm (<5th %ile). Family history: noncontributory for known genetic disorders or chromosomal conditions, no reported consanguinity.
Developmental delay. Development quotient for cognitive domain (28 mos.): 62.
148588846
148829279
240434
GRCh38
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
148154732
148654059
499328
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1223-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
153910800
154115553
204754
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1223-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
154302066
154381603
79538
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP96-053_LP
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
154153574
154307767
154194
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDR08-020a1
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
154153574
154307767
154194
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-148
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
154153574
154652571
498998
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-186
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
154153574
154307767
154194
GRCh38
Duplication
No
sakai_11_ASD_discovery_cases-11092.p1
NA
M
ASD
History of seizures. Proband also used in Levy et al. 2011 CNV report (levy_11_ASD_discovery_cases-11092.p1)
IQ, 109; verbal IQ, 108; non-verbal IQ, 125
154347608
154551923
204316
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
151709072
151709846
775
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11086.p1
7.4
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
149800897
149899942
99046
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11092.p1
13.1
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108
154337682
154583375
245694
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
151661669
151662160
491
NCBI36
Deletion
No
sanders_11_ASD_discovery_cases-11128.p1
11.4
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
149781364
149937609
156246
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11144.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
155545002
155553105
8104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11168.p1
11.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
155552429
155557395
4967
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11193.p1
7.5
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
149548183
149665801
117619
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11193.p1
7.5
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
149728078
149934102
206025
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11198.p1
11.9
M
Autism
NA
Full-scale IQ, 120; non-verbal IQ, 115; verbal IQ, 123
154142466
154303574
161109
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11220.p1
12.1
F
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
155550622
155553105
2484
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11232.p1
8.7
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
154142466
154303574
161109
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11289.p1
6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
154142466
154303532
161067
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11301.p1
9.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
154142466
154303628
161163
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11309.p1
16.1
M
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 34; verbal IQ, 26
154142466
154303532
161067
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11334.p1
14.6
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
154153043
154312626
159584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11349.p1
7
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
149800897
149937609
136713
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11349.p1
7
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
149548183
149578774
30592
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11409.p1
4.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
149781364
149899942
118579
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11437.p1
16.6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
154142466
154312626
170161
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11440.p1
8.2
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
155584790
155699751
114962
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11444.p1
16.3
F
Aspergers
NA
Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
154164987
154230626
65640
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11479.p1
6
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
154153043
154303532
150490
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11497.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
155552429
155559522
7094
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
149781364
149934102
152739
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
151709072
151709846
775
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
149797915
149902009
104095
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11569.p1
9.1
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
154788508
155054486
265979
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
155528816
155557395
28580
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11700.p1
6.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 80
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
149761396
149940905
179510
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
153060001
153251490
191490
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
151709072
151709846
775
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11714.p1
6.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
155552429
155557395
4967
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11733.p1
5.5
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
153074580
153251490
176911
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11782.p1
5.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
155552429
155557395
4967
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11914.p1
7.1
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12010.p1
10
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
153888385
153891144
2760
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12097.p1
4.8
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
148246858
148255762
8905
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12130.p1
8.4
F
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
149184587
149218224
33638
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12152.p1
8.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
149613262
149749526
136265
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12175.p1
5.1
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
149797915
149916980
119066
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
149797915
149902009
104095
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
149797915
149902009
104095
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12313.p1
11.8
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
155550622
155553105
2484
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12314.p1
6.2
M
ASD
NA
Full-scale IQ, 116; non-verbal IQ, 121; verbal IQ, 103
154164987
154230626
65640
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12346.p1
13.4
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106
154164987
154230626
65640
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12369.p1
7.3
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 59; verbal IQ, 50
151441512
151563609
122098
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12382.p1
10.1
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 94; verbal IQ, 88
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12541.p1
6.5
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 133; verbal IQ, 108
154984262
155042675
58414
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12548.p1
11.9
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 113; verbal IQ, 76
149771129
149929149
158021
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12594.p1
8.3
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
155643383
155668900
25518
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12605.p1
16.3
M
Autism
NA
Full-scale IQ, 120; non-verbal IQ, 108; verbal IQ, 136
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12607.p1
5.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
155550622
155553105
2484
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12623.p1
6.7
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 95
154458898
154459772
875
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12640.p1
4.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 118; verbal IQ, 99
154164987
154230626
65640
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12667.p1
6.3
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 49; verbal IQ, 19
149797915
149916980
119066
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12682.p1
9.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
155557395
155574640
17246
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12764.p1
15.2
F
ASD
NA
Full-scale IQ, 94; non-verbal IQ, 99; verbal IQ, 86
152147739
152202420
54682
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12784.p1
4.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 106; verbal IQ, 87
154142466
154295994
153529
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12792.p1
7.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 107
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12794.p1
8.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12798.p1
4.8
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
151709846
151873527
163682
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12828.p1
9.3
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 57; verbal IQ, 66
151065144
151098897
33754
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12831.p1
4.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 94; verbal IQ, 64
155552429
155557395
4967
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12843.p1
6.2
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
149761396
149902009
140614
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12879.p1
10.3
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 35; verbal IQ, 33
149797915
149902009
104095
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12921.p1
11.4
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12975.p1
10.4
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13015.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
151709072
151709846
775
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13060.p1
6.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13073.p1
4.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 60; verbal IQ, 25
155550622
155553105
2484
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13097.p1
9.9
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
151709072
151709846
775
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13301.p1
13.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13322.p1
16.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
149479743
149781364
301622
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13327.p1
12.6
M
Aspergers
NA
Full-scale IQ, 103; non-verbal IQ, 95; verbal IQ, 118
154143410
154295994
152585
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13337.p1
5.1
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
154153043
154230626
77584
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case49
3 yrs.
F
Congenital anomalies
Congenital anomalies, Dysmorphism
154890368
155331063
440696
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case69
2 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability
154022066
154312938
290873
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseCLIN35
N/A
F
Autism
Case fulfilled DSM-V criteria for autism; no other information available
149791696
149877850
86155
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family50_Twin_1
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
154348866
154359897
11032
GRCh38
Duplication
No
stettner_11_ID/ASD_discovery_cases-patient1
11 yrs. 7 mos.
M
Intellectual disability + autistic traits
Birth/neonatal history: normal pregnancy, birth at term, normal early postnatal history. Developmental milestones: symptomatic at 2 yrs of age (mild motor and prominent language developmental delays). No formal diagnosis of autism/ASD, but patient displays autistic features (hand flapping, restricted interests, repetitive behavior, impaired social interaction & communication that became more obvious with age). Behavioral characteristics: aggression, impulsivity, agitation, attention deficit, hyperkinetic symptoms. Neuropsychological testing incomplete due to severe behavioral problems. Dysmorphic features: no minor anomalies or facial abnormalities. Audiological evaluation (at 3 yrs.): normal. Epilepsy/seizures: none. Brain MRI: normal. Growth parameters: OFC, 20th %ile. Family history: brother with similar phenotype; clinically unaffected mother who is a carrier for the deletion; older brother exhibits mild ADHD, but no intellectual disability or autistic features (does not have AFF2 deletion); maternal aunt with non-syndromic mild intellectual disability but no behavioral abnormalities (does not have AFF2 deletion); materal uncle with non-syndromic mild intellectual disability and behavioral abnormalities/autistic features (has AFF2 deletion).
Mild intellectual disability (ID)
148573748
148719506
145759
GRCh38
Deletion
No
stettner_11_ID/ASD_discovery_cases-patient2
10 yrs. 4 mos.
M
Intellectual disability + autistic traits
Birth/neonatal history: normal pregnancy, birth at term, normal early postnatal history. Developmental milestones: symptomatic at 2 yrs of age (mild motor and prominent language developmental delays). No formal diagnosis of autism/ASD, but patient displays autistic features (hand flapping, restricted interests, repetitive behavior, impaired social interaction & communication that became more obvious with age). Behavioral characteristics: aggression, impulsivity, agitation, attention deficit, hyperkinetic symptoms. Dysmorphic features: no minor anomalies or facial abnormalities. Audiological evaluation (at 3 yrs.): normal. Epilepsy/seizures: none. Growth parameters: OFC, 2nd %ile. Family history: brother with similar phenotype; clinically unaffected mother who is a carrier for the deletion; older brother exhibits mild ADHD, but no intellectual disability or autistic features (does not have AFF2 deletion); maternal aunt with non-syndromic mild intellectual disability but no behavioral abnormalities (does not have AFF2 deletion); materal uncle with non-syndromic mild intellectual disability and behavioral abnormalities/autistic features (has AFF2 deletion).
Mild intellectual disability (ID); WISC IV full-scale IQ score of 65 (verbal comprehension 65, working memory 50, perceptual reasoning 92, processing speed 79)
148573748
148719506
145759
GRCh38
Deletion
No
streata_22_ASD/DD/ID_discovery_cases-case39
NA
M
Intellectual disability
Speech and/or language delay or impairment, congenital anomalies, facial dysmorphism.
Mild/moderate intellectual disability
152203358
155996408
3793051
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_cases-case92
14- 20 years
M
Developmental delay
Developmental delay, recurrent infections
Developmental delay
152789896
155940378
3150483
GRCh38
Duplication
No
tropeano_16_ASD_discovery_cases-MAAS3
40-49 yrs.
M
ASD
Case diagnosed with atypical autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 2.
149041660
149542023
500364
GRCh38
Duplication
Yes
tzetis_12_DD/ID_discovery_cases-case62
M
ASD
Microcephaly, arched palate, hypotonia, ataxia, long digits, speech delay, single palmar crease, hypomyelinosis, ASD
150793720
155856875
5063156
GRCh38
Duplication
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)
154145662
154240069
94408
GRCh38
Deletion
No
vanmarsenille_13_ID/SCZ_discovery_cases-caseAV1
29 yrs.
M
Intellectual disability and schizophrenia
DSM-IV diagnosis of schizophrenia of the paranoid type at age of 22 years. Birth/neonatal history: born after uneventful pregnancy. Behavioral/psychiatric evaluation: admitted to boarding school for intellectually disabled children at age of 13 years for severe behavioral difficulties; referred to psychiatrist at age of 15 years (diagnosed with paranoid ideas, treated with pimozide); presented with fugues and verbal aggression at this time; admitted to psychiatric unit due to severe automutiliation; anxious and had paranoid ideas; avoided contact with other patients and showed poor hygiene; readmitted at age of 29 years with similar psychiatric problems (clozapine, zuclopenthixol, and valproic acid prescribed at this time). Brain imaging: no abnormalities on brain MRI. Other features: orchidopexy undertaken at age of 7 years, diagnosed with unilateral dysplasia of the hip. Dysmorphic features: long face, high forehead, ears with simple helices. Growth parameters: height of 179 cm (50th %ile), weight of 126.3 kg (97th %ile = 106 kg), BMI of 39.42, and OFC of 59 cm (97th %ile). Family history: second child of healthy unrelated Belgian parents; healthy older brother; family history is negative for ID or congenital anomalies.
Mild intellectual disability; TIQ of 61, PIQ of 64, and VIQ of 68 on Wechsler Adult Intelligence Scale (WAIS).
154890327
155376506
486180
GRCh38
Duplication
Yes
vanmarsenille_13_ID/SCZ_discovery_cases-caseKM1
6.5 yrs.
M
Intellectual disability
Birth/neonatal history: born at term with birth weight of 3400 g. Developmental milestones: normal early development; started to walk at age of 13 months. Language and communication evaluation: dysarthric speech. Motor and musculoskeletal evaluation: clumsy and spastic gait; sandal gap in feet. short T2, partial syndactyly of T2-3. Behavioral/psychiatric evaluation: difficulties with socialization. EEG: normal. Brain imaging: normal brain MRI. Other features: mildly feminine body composition (wide hips with fat distribution); frequent bronchitis and allergy episodes; later diagnosed with ashtma. Dysmorphic features: deep set eyes, high nasal bridge. Growth parameters: normal growth; height of 116 cm (0 SD), weight of 20.5 kg (-0.5 SD), and head circumference of 51 cm (-1 SD). Family history: only child of nonconsanguineous Estonian parents; half-brother with mild ID, half-sister with epilepsy; mother not tested.
Mild intellectual disability; Wechsler Intelligence Scale for Children (WISCI) IQ score of 60 (verbal < nonverbal; 61 and 67, respectively)
154890327
155376506
486180
GRCh38
Triplication
Yes
vanmarsenille_13_ID/SCZ_discovery_cases-caseT61-II.1
6.5 yrs.
M
Intellectual disability
Case present in DECIPHER database (patient ID 248532). Birth/neonatal history: born at term with birth weight of 3690 g (50th %ile), length of 50 cm (50th %ile), and head circumference of 32.5 cm (5th %ile). Language and communication evaluation: speech impairment. Behavioral/psychiatric evaluation: aggressive behavior. Dysmorphic features: high forehead, frontal cow-lick, large ears, auricular pits, hypertelorism, anteverted nares, enlarged philtrum, thin upper lip, spaced central incisors. Growth parameters: weight of 32.2 kg (>97th %ile), height of 131.54 cm (>97th %ile), and head circumference of 51 cm (50th %ile). Family history: born to unrelated Caucasian parents; affected younger brother presenting with mild ID, speech impairment, mild craniofacial anomalies, cow-lick, and large ears; mother with learning difficulties but no other anomalies.
Mild-moderate intellectual disability
154890327
155376506
486180
GRCh38
Duplication
Yes
vanmarsenille_13_ID/SCZ_discovery_cases-caseT61-II.2
3 yrs.
M
Intellectual disability
Language and communication evaluation: speech impairment. Dysmorphic features: mild craniofacial anomalies, cow-lick, large ears. Family history: born to unrelated Caucasian parents; affected older brother presenting with similar phenotype; mother with learning difficulties but no other anomalies.
Mild intellectual disability
154890327
155376506
486180
GRCh38
Duplication
No
wenger_16_ASD_discovery_cases-case31
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
154307767
154601444
293678
GRCh38
Deletion
No
willemsen_12_DD/ID_discovery_cases-case15
M
Intellectual disability
Bilateral inguinal hernia, ataxia
Intellectual disability
148320788
149650526
1329739
GRCh38
Deletion
No
willemsen_12_DD/ID_discovery_cases-case31
M
Intellectual disability
Multiple congenital anomalies (MCA)
Intellectual disability
149110754
149610516
499763
GRCh38
Duplication
No
willemsen_12_DD/ID_discovery_cases-case32
M
Hypotonia
Hypotonia
149440542
149640538
199997
GRCh38
Duplication
No
willemsen_12_DD/ID_discovery_cases-case33
M
Intellectual disability
Multiple congenital anomalies (MCA)
Intellectual disability
150241118
150710870
469753
GRCh38
Duplication
No
xu_12_ASD_discovery_cases-patient01A
9 yrs. 5 mos.
M
ASD
Patient diagnosed with autism using DSM-IV at 4 years and 11 months of age; ADOS score at 9 years 5 months of age well above cutoff for autistic disorder. ADOS scores: communication, 6; social interaction, 14; combined, 20. Bayley Scales of Infant Development-3 scores: developmental age, 9 months; receptive language, 15 months; expressive language, 6 months; fine motor, 15 months; gross motor, 15 months. Birth/neonatal history: born at full-term following uneventful birth; hospitalized once at age of a few months. Developmental milestones: general developmental delay (able to walk at age of 20 months). Language and communication evaluation: generated a couple of words at age of 3-4 years; currently only capable of saying "mama" and had passive understanding of simple sentences as spoken by mother; no other langauge or echolalia. Motor and musculoskeletal evaluation: walked and ran slightly unsteadily, could not jump with both feet off the ground, slightly hypotonic. Behavioral/psychiatric evaluation: occasionally ran around with other children, but could not engage in interactive play; anxiety when encountering strangers or when entering a new environment; clapped hands when happy. Epilepsy/seizures: none. Sleep disturbances: none. Dysmorphic features: large ears, depressed nasal bridge. Other features: no history of respiratory infections, frequent constipation, not ill very often. Growth parameters: normal height range, slightly slender. Family history: healthy, non-consanguineous parents; mother had slightly higher scores in somatization, depression, anxiety and psychoticism on completing Symptom Checklist-90; older brother with ASD/autistic disorder; sister who died one month after birth following premature borth and poor feeding (DNA sample N/A).
Weschler Intelligence Scale scores: verbal IQ <40, performance IQ <40, full-scale IQ <40.
152200833
154361209
2160377
GRCh38
Duplication
Yes
xu_12_ASD_discovery_cases-patient01B
18 yrs.
M
ASD
ADOS score well above cutoff for autistic disorder. ADOS scores: communication, 5; social interaction, 12; combined, 17. Bayley Scales of Infant Development-3 scores: developmental age, 6 months; receptive language, 11 months; expressive language, 5 months; fine motor, 12 months; gross motor, 15 months. Developmental milestones: learned to walk at 20 months. Language and communication evaluation: no language; able to passively understand simple phraases as spoken by mother. Motor and musculoskeletal evaluation: walked and ran slightly unsteadily; liked to walk on toes; unable to jump with both feet off the floor. Behavioral/psychiatric evaluation: stayed in room alone at all times other than meal times; liked to look at cars on the street and was very excited by wheels; put hands to mouth and laughed loudly when happy; frequent hand-flapping; did nto engage in interaction with others, but laughed often. Epilepsy/seizures: no history. Brain imaging: no obvious abnormalities on previous CT scan. Dysmorphic features: depressed nasal bridge, midface hypoplasia. Other features: no history of respiratory infections or other major medical treatments. Growth parameters: normal height & weight. Family history: healthy, non-consanguineous parents; mother had slightly higher scores in somatization, depression, anxiety and psychoticism on completing Symptom Checklist-90; younger brother with autism/autistic disorder; sister who died one month after birth following premature borth and poor feeding (DNA sample N/A).
Weschler Intelligence Scale scores: verbal IQ <36, performance IQ <14, full-scale IQ <24.
152200833
154361209
2160377
GRCh38
Duplication
Yes
xu_16_ASD/DD/ID_discovery_cases-case39
N/A
N/A
ASD
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
154562646
155650820
1088175
GRCh38
Duplication
No
yon_17_ASD/ID/EP_discovery_cases-case1
11 yrs.
M
ASD, intellectual disability, and epilepsy
Case diagnosed with autistic spectrum disorder in accordance with DSM-V. Birth/neonatal history: born at 41 weeks gestation by spontaneous vaginal delivery; birth weight of 2500 g; treated in NICU over three weeks due to infantile central hypotonia with poor sucking; feeding difficulties in infancy remedied via special feeding techniques and improved gradually with age. Developmental milestones: developmental delay; independent walking at 36 months of age. Language and communication evaluation: unable to form any meaningful words; language development at the 14-month level according to the Korean-Child Development Review (K-CDR). Motor and musculoskeletal evaluation: gross and fine motor skills corresponded to those observed in children aged 30 and 20 months, respectively, according to the Korean-Child Development Review (K-CDR); motor scale of Bayley Scales of Infant Development test II (BSID II), 14 month function; generalized hypotonia; significant weakness in the extremities; choreiform movements (hand wringing); moderated increased spasticity of the lower limbs. Behavioral/psychiatric evaluation: social development at the 18-month level according to the Korean-Child Development Review (K-CDR); no eye contact; no social-emotional reciprocity; excessive adherence to use of a pencil; hand stereotypies (hand shaking); hyper-reactivity to unusual interests. Epilepsy/seizures: generalized tonic-clonic seizures (onset at 10 years of age, successfuly treated with oxycarbamazepine). EEG: epileptic sharp wave discharges from the right temporal cerebral area with poorly regulated posterior rhythm and slow background activity. Brain imaging: normal brain MRI. Additional medical history: recurrent infections (bacterial infections including pneumonia and gastroenteritis, requiring hospitalization about three times a year). Dysmorphic features: brachycephaly, slightly upturned nares, large ears, low set ears. Growth parameters: height of 149 cm (50th-75th %ile), weight of 50 kg (75th-90th %ile), and OFC of 53 cm (75th-90th %ile). Family history: similarly affected brother with Xq28 duplication; mother with Xq28 duplication had normal cognition but suffered from psychiatric symptoms (depressive episodes and narcolepsy with frequent cataplexy), sometimes collapsed when standing or walking, presented with prominent lips, and had an IQ of 77 (6th %ile) as measured by the Korean Wechsler Adult Intelligence Scale fourth edition (K-WAIS-IV), suggesting borderline intellectual disability; father passed away in a car accident.
Severe intellectual disability [based on mental developmental index of the Bayley Scales of Infant Development test II (BSID II), which yielded an equivalent age of 24 months]
153761848
154173293
411446
GRCh38
Duplication
Yes
yon_17_ASD/ID/EP_discovery_cases-case2
10 yrs.
M
ASD, intellectual disability, and epilepsy
Case diagnosed with autistic spectrum disorder in accordance with DSM-V at 8 years of age. Birth/neonatal history: born at 41 weeks gestation via C-section due to cephalopelvic disproportion); birth weight of 3000 g. Developmental milestones: global developmental delay; independent walking at 25 months of age. Language and communication evaluation: language development at the 14-month level according to the Korean-Child Development Review (K-CDR); unable to produce any meaningful words. Motor and musculoskeletal evaluation: gross and fine motor skills corresponded to those observed in children aged 30 and 22 months, respectively, according to the Korean-Child Development Review (K-CDR); motor scale of Bayley Scales of Infant Development test II (BSID II), 12 month function; choreiform movements; moderate increased spasticity of the lower limbs; excessive drooling. Behavioral/psychiatric evaluation: social development at the 16-month level according to the Korean-Child Development Review (K-CDR); no eye contact or facial expressions; strong attachment to unusual objects (flipping through pages of books). Epilepsy/seizures: generalized tonic-clonic seizures (onset at 10 years of age, successfully treated with valproic acid). EEG: frequent generalized bursts of epileptic sharp wave discharges from both the frontal cerebral area followed by attenuation of background activity. Brain imaging: normal brain MRI. Additional medical history: recurrent infections (multiple bacterial infections resulting in pneumonia, each time leading to hospitalization). Dysmorphic features: large ears, slightly upturned nares, midface hypoplasia, depressed nasal bridge. Growth parameters: height of 139 cm (75th-90th %ile), weight of 37 kg, and head circumference of 54 cm (75th-90th %ile). Family history: similarly affected brother with Xq28 duplication; mother with Xq28 duplication had normal cognition but suffered from psychiatric symptoms (depressive episodes and narcolepsy with frequent cataplexy), sometimes collapsed when standing or walking, presented with prominent lips, and had an IQ of 77 (6th %ile) as measured by the Korean Wechsler Adult Intelligence Scale fourth edition (K-WAIS-IV), suggesting borderline intellectual disability; father passed away in a car accident.
Severe intellectual disability [based on mental developmental index of the Bayley Scales of Infant Development test II (BSID II), which yielded an equivalent age of 9 months]
153761848
154173293
411446
GRCh38
Duplication
Yes
yuan_23_ASD_discovery_cases-qma01675d000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
154030354
154032809
2456
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU047703
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
154880726
155366686
485961
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU047704
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
154879726
155375351
495626
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU3636302
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
155249231
155261376
12146
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case239189S
N/A
F
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): PTSD no additional phenotypes reported early abuse
155166931
155451707
284777
GRCh38
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
brandler_18_ASD_discovery_controls-controlSSC05132
N/A
M
Control
Control from SSC_phase1 cohort
154456630
154461314
4685
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-control110036023398_
N/A
N/A
Control
No previous psychiatric history
149587083
149787838
200756
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036024651_
N/A
N/A
Control
No previous psychiatric history
152988519
153322433
333915
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB154343_0057061622
N/A
N/A
Control
No previous psychiatric history
149800897
149899942
99046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB159476_1007873588
N/A
N/A
Control
No previous psychiatric history
155327381
155454002
126622
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB267330_1007841417
N/A
N/A
Control
No previous psychiatric history
150204096
150729015
524920
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB326966_1007875802
N/A
N/A
Control
No previous psychiatric history
149604380
149652965
48586
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB329167_0067942632
N/A
N/A
Control
No previous psychiatric history
154583375
155276456
693082
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB395840_1007872297
N/A
N/A
Control
No previous psychiatric history
153134125
153239095
104971
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB418695_1007840289
N/A
N/A
Control
No previous psychiatric history
152725403
152920495
195093
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB497682_1007842348
N/A
N/A
Control
No previous psychiatric history
149767069
149899942
132874
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB506410_1007874896
N/A
N/A
Control
No previous psychiatric history
149800897
149899942
99046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB520147_1007873599
N/A
N/A
Control
No previous psychiatric history
149675472
149864387
188916
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB539168_1007853974
N/A
N/A
Control
No previous psychiatric history
149800897
149899942
99046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB565962_1007873333
N/A
N/A
Control
No previous psychiatric history
153134125
153229130
95006
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB587867_1007848509
N/A
N/A
Control
No previous psychiatric history
149488413
149787838
299426
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB596896_1007850211
N/A
N/A
Control
No previous psychiatric history
149800897
149899942
99046
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
N/A
N/A
Control
No previous psychiatric history
149833605
149899942
66338
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB667665_1007852536
N/A
N/A
Control
No previous psychiatric history
149800897
149899942
99046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB681290_1007874840
N/A
N/A
Control
No previous psychiatric history
149665801
149974723
308923
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB781862_1007846109
N/A
N/A
Control
No previous psychiatric history
153074812
153251490
176679
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB784802_1007846124
N/A
N/A
Control
No previous psychiatric history
149800897
149899942
99046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB884573_1007852580
N/A
N/A
Control
No previous psychiatric history
149800897
149899942
99046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
N/A
N/A
Control
No previous psychiatric history
149801677
149916980
115304
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900060_900060
N/A
N/A
Control
No previous psychiatric history
149797915
149929149
131235
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900206_900206
N/A
N/A
Control
No previous psychiatric history
149755404
149916980
161577
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900206_900206
N/A
N/A
Control
No previous psychiatric history
149565076
149652965
87890
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900542_900542
N/A
N/A
Control
No previous psychiatric history
149797915
149916980
119066
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
N/A
N/A
Control
No previous psychiatric history
154156377
154301540
145164
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
N/A
N/A
Control
No previous psychiatric history
149800897
149929149
128253
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901158_901158
N/A
N/A
Control
No previous psychiatric history
149797915
149902009
104095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901173_901173
N/A
N/A
Control
No previous psychiatric history
149797915
149902009
104095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902474_902474
N/A
N/A
Control
No previous psychiatric history
149797915
149916980
119066
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902762_902762
N/A
N/A
Control
No previous psychiatric history
153162163
153273198
111036
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902947_900179
N/A
N/A
Control
No previous psychiatric history
149653630
149827392
173763
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_903002_903002
N/A
N/A
Control
No previous psychiatric history
149617109
149740928
123820
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_119
NA
NA
Control
NA
NA
153123668
153250226
126559
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_149
NA
NA
Control
NA
NA
149509108
149681127
172020
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11857.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
149603986
149631580
27595
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12152.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
149631542
149716776
85235
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12343.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
153910699
153912804
2106
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12829.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
149608626
149631580
22955
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13171.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
151622936
151659838
36903
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13322.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
149482745
149764806
282062
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13535.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
153152067
153273226
121160
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14037.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
149688929
149764806
75878
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON1739
26 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
155530103
155570608
40506
GRCh38
Deletion
N/A
nord_11_ASD_discovery_controls-04C27075
Control
153437471
153532205
94735
Unknown
Deletion
sanders_11_ASD_discovery_controls-11004.s1
10.3
M
Control (matched sibling)
NA
NA
154153043
154303628
150586
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11046.s1
5.7
M
Control (matched sibling)
NA
NA
148744070
148747138
3069
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11088.s1
14.5
F
Control (matched sibling)
NA
NA
155545002
155548462
3461
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11168.s1
7.9
M
Control (matched sibling)
NA
NA
155552429
155557395
4967
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11242.s1
10.6
M
Control (matched sibling)
NA
NA
154153043
154302066
149024
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
149797915
149902009
104095
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11285.s1
16.4
M
Control (matched sibling)
NA
NA
154153043
154302066
149024
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11325.s1
12.3
M
Control (matched sibling)
NA
NA
154142466
154312626
170161
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11349.s1
8.6
M
Control (matched sibling)
NA
NA
149548183
149578774
30592
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11349.s1
8.6
M
Control (matched sibling)
NA
NA
149804505
149899942
95438
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11440.s1
12.5
F
Control (matched sibling)
NA
NA
155584790
155699751
114962
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11490.s1
9.8
F
Control (matched sibling)
NA
NA
155552429
155557395
4967
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11497.s1
5.1
M
Control (matched sibling)
NA
NA
155552429
155557395
4967
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11564.s1
6.3
F
Control (matched sibling)
NA
NA
149800897
149899942
99046
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11571.s1
6.3
F
Control (matched sibling)
NA
NA
155550622
155553105
2484
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11620.s1
15.1
F
Control (matched sibling)
NA
NA
150033428
150040102
6675
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11714.s1
4.3
M
Control (matched sibling)
NA
NA
155552429
155557395
4967
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11724.s1
14.5
F
Control (matched sibling)
NA
NA
155686314
155699751
13438
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11775.s1
12.7
F
Control (matched sibling)
NA
NA
152131162
152164379
33218
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11857.s1
12.5
F
Control (matched sibling)
NA
NA
149748745
149934102
185358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11857.s1
12.5
F
Control (matched sibling)
NA
NA
149565076
149657734
92659
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11917.s1
4.3
F
Control (matched sibling)
NA
NA
151312149
151329506
17358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11999.s1
4.3
F
Control (matched sibling)
NA
NA
149797915
149916980
119066
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12011.s1
10
M
Control (matched sibling)
NA
NA
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12030.s1
8.2
F
Control (matched sibling)
NA
NA
155552429
155557395
4967
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12071.s1
19.6
M
Control (matched sibling)
NA
NA
149800897
149899942
99046
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12086.s1
25.2
M
Control (matched sibling)
NA
NA
154142466
154295931
153466
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12121.s1
6.5
F
Control (matched sibling)
NA
NA
155557395
155560032
2638
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12152.s1
6.8
M
Control (matched sibling)
NA
NA
149613262
149749526
136265
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12162.s1
11
F
Control (matched sibling)
NA
NA
155550622
155553105
2484
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12175.s1
6.7
F
Control (matched sibling)
NA
NA
149797915
149929149
131235
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12180.s1
21.4
F
Control (matched sibling)
NA
NA
155550622
155553105
2484
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12313.s1
9.8
F
Control (matched sibling)
NA
NA
155550622
155553105
2484
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12314.s1
8.2
M
Control (matched sibling)
NA
NA
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12339.s1
12.9
F
Control (matched sibling)
NA
NA
154890669
155373472
482804
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12434.s1
8.8
F
Control (matched sibling)
NA
NA
155686314
155699751
13438
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12497.s1
10.8
F
Control (matched sibling)
NA
NA
149787838
149929149
141312
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
155686314
155699751
13438
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12573.s1
11.7
M
Control (matched sibling)
NA
NA
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12582.s1
9.2
M
Control (matched sibling)
NA
NA
155548462
155553105
4644
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12598.s1
12
F
Control (matched sibling)
NA
NA
152153810
152164379
10570
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12598.s1
12
F
Control (matched sibling)
NA
NA
155686314
155699751
13438
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12623.s1
8.8
M
Control (matched sibling)
NA
NA
154458898
154459772
875
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12682.s1
8.1
M
Control (matched sibling)
NA
NA
155557395
155578509
21115
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12759.s1
5.8
F
Control (matched sibling)
NA
NA
155686314
155699751
13438
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12787.s1
10.8
F
Control (matched sibling)
NA
NA
149797915
149902009
104095
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12794.s1
6.3
M
Control (matched sibling)
NA
NA
154153043
154230626
77584
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12796.s1
6.8
F
Control (matched sibling)
NA
NA
152153810
152164379
10570
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12829.s1
14.1
M
Control (matched sibling)
NA
NA
149604380
149652965
48586
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
155552429
155557395
4967
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13159.s1
13.6
M
Control (matched sibling)
NA
NA
154164987
154230626
65640
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13175.s1
13.7
F
Control (matched sibling)
NA
NA
154164987
154230626
65640
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
149797915
149902009
104095
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13322.s1
14.3
F
Control (matched sibling)
NA
NA
149479743
149787838
308096
GRCh38
Duplication
No
soueid_16_ASD_discovery_controls-control14
N/A
N/A
Control
149791696
149877850
86155
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
addis_15_ASD_replication_cases-caseMM1259-003
qPCR or another method
Unknown
Multiplex
Possibly segregated
TMLHE-AS1,TMLHE
addis_15_ASD_replication_cases-caseMM1259-004
qPCR or another method
Unknown
Multiplex
Possibly segregated
TMLHE-AS1,TMLHE
asadollahi_14_NDD_discovery_cases-case56761
MLPA
Paternal
Unknown
Unknown
AMD1P2,DPH3P2,VAMP7
bartnik_12_EP_discovery_cases-case8
Maternal
IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A
bartnik_12_EP_discovery_cases-case8
FISH
Maternal
PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
battaglia_13_DD/ID/ASD_discovery_cases-case75
FISH or qPCR
Maternal
Maternal
Possible multi-generational
Segregated
IDSP1,CXorf40A,IDS,LINC00893
battaglia_13_DD/ID/ASD_discovery_cases-case77
FISH or qPCR
De novo
Unknown
Unknown
EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,FLNA,TAZ,ATP6AP1,PLXNA3,RPL10,DNASE1L1
bitar_19_ASD_discovery_cases-case91
qPCR
Maternal
IDSP1,CXorf40A,HSFX3,IDS,LINC00893
brandler_16_ASD_discovery_cases_caseREACH000145
Solid phase hybridization (Illumina 2.5M)
De novo
Unknown
Possibly segregated
TMEM185A
brandler_18_ASD_discovery_cases-caseREACH000145
SNP VCF
De novo
HSFX2,MAGEA9B,TMEM185A
brandler_18_ASD_discovery_cases-caseREACH000704
SNP VCF
De novo
F8A1,MIR1184-1,CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
brandler_18_ASD_discovery_cases-caseSSC05124
PCR or SNP data validation
Maternal
PLXNA3
bremer_11_ASD_discovery_cases-case12
MLPA, FISH
Maternal
NA
NA
LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,L1CAM
brunet_21_NDD_discovery_cases-case115
Maternal
Unknown
ARHGAP4,HCFC1,OPN1MW,IRAK1,TEX28P2,OPN1MW2,TEX28P1,MECP2,MIR718,MIR3202-1,MIR3202-2,HCFC1-AS1,RENBP,OPN1LW,NAA10,TMEM187
celestino-soper_11_ASD_discovery_cases-11000
aCGH (Agilent 4x180K or 8x60K)
Inherited
Simplex
NA
TMLHE-AS1,TMLHE
celestino-soper_11_ASD_discovery_cases-11443
Solid phase hybridization (Illumina 1M SNP)
Inherited
Simplex
NA
FAM223B,IKBKGP1,CTAG2
chaves_19_ASD/DD/ID_discovery_cases-case151
Unknown
RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
chaves_24_ASD/DD/ID_discovery_cases-case574
Unknown
CLIC2,AMD1P2,F8,TMLHE,FUNDC2,BRCC3,H2AB3,RAB39B,PHF10P1,IL9R,H2AB2,F8A3,F8A2,TWF1P2,MTCP1,ELOCP24,CMC4,MIR1184-2,MIR1184-3,TMLHE-AS1,DPH3P2,VBP1,VAMP7,CD84P1,SRD5A2P1,SPRY3
chaves_24_ASD/DD/ID_discovery_cases-case809
Unknown
AVPR2,ARHGAP4,TEX28,EMD,FLNA,IRAK1,OPN1MW,HCFC1,TEX28P1,TEX28P2,OPN1MW2,L1CAM,MECP2,MIR718,MIR3202-1,MIR3202-2,HCFC1-AS1,OPN1MW3,RENBP,OPN1LW,RPL10,TKTL1,NAA10,TMEM187
chehbani_22_ASD_discovery_cases-case31
Unknown
Simplex
VBP1
chehbani_22_ASD_discovery_cases-case34
Unknown
Simplex
VBP1
chehbani_22_ASD_discovery_cases-case63
Unknown
Simplex
VBP1
chehbani_22_ASD_discovery_cases-case68
Unknown
Simplex
VBP1
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1293
Nimblegen aCGH
De novo
Simplex (negative family history)
Segregated
PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,CETN2,ZNF185,ZNF275,HAUS7,L1CAM
cucinotta_23_ASD_discovery_cases-case15
Maternal
CD99L2,HMGB3,RPL19P21,MTM1,RNU6-383P,RPL12P50,PPIAP91,RNA5SP525,MTMR1,MAMLD1
cucinotta_23_ASD_discovery_cases-case396
Maternal
VBP1
cukier_12_ASD_discovery_cases-case39283-0001
Unknown
Unknown
Unknown
PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,L1CAM
cukier_12_ASD_discovery_cases-case39283-0001
Array SNP
Maternal
Simplex for ASD; multiplex for DD/ID and allergies
Not segregated for ASD; segregated for DD/ID and allergies
IRAK1,MIR718,MECP2
davis_09_ASD_discovery_cases-AU019705
Unknown
Unknown
Unknown
many
digregorio_17_DD/ID_discovery_cases-DECIPHER_299916
qPCR
Maternal
CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
du_21_ASD/DD/ID_discovery_cases-case198
Unknown
ABCD1,AVPR2,ATP2B3,ARHGAP4,BGN,TEX28,DUSP9,SRPK3,HAUS7,PDZD4,CCNQ,ZFP92,PNCK,IDH3G,IRAK1,OPN1MW,HCFC1,KRT18P48,CYCSP45,RPL18AP16,PNMA6E,TEX28P1,TEX28P2,OPN1MW2,L1CAM,MECP2,MIR718,MIR3202-1,MIR3202-2,HCFC1-AS1,OPN1MW3,PLXNB3,RENBP,OPN1LW,ECMXP,SSR4,SLC6A8,RN7SL667P,RN7SL687P,TKTL1,NAA10,TMEM187,BCAP31,TREX2
engchuan_15_ASD_discovery_cases-case14022_460
Unknown
PNMA6A,PNMA6B,MAGEA1
engchuan_15_ASD_discovery_cases-case14216_3470
Unknown
SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
engchuan_15_ASD_discovery_cases-case16036_1571014001
Unknown
TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_cases-case16048_1571101001
Unknown
TMEM185A
engchuan_15_ASD_discovery_cases-case16067_1571134001
Unknown
TMEM185AP1,HSFX1,MAGEA11
engchuan_15_ASD_discovery_cases-case16067_1571134001
Unknown
MIR2114,XRCC6P2,CXorf40B,HSFX4,LINC00894
engchuan_15_ASD_discovery_cases-case16090_1571122001
Unknown
TMEM185A,MAGEA11
engchuan_15_ASD_discovery_cases-case20013_1075001
De novo
EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
engchuan_15_ASD_discovery_cases-case20081_1370001
Unknown
MAGEA1
engchuan_15_ASD_discovery_cases-case20128_4016001
Unknown
TMEM185A
engchuan_15_ASD_discovery_cases-case20162_1653001
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_cases-case2055_2
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_cases-case3491_3
Unknown
PNMA6A,PNMA6B,MAGEA1,PNMA3
engchuan_15_ASD_discovery_cases-case4166_1
Unknown
CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,MAGEA2B,CSAG1,NSDHL,MAGEA3,CETN2
engchuan_15_ASD_discovery_cases-case4349_1
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_cases-case4350_1
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_cases-case4354_1
Unknown
IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9
engchuan_15_ASD_discovery_cases-case4531_1
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_cases-case4548_1
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_cases-case5036_4
Unknown
IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11
engchuan_15_ASD_discovery_cases-case5286_3
Unknown
TMEM185A
engchuan_15_ASD_discovery_cases-case5352_3
Unknown
PNMA6A,PNMA6B,PNMA5,PNMA3,ZNF185
engchuan_15_ASD_discovery_cases-case5432_3
Unknown
PNMA6A,PNMA6B,MAGEA1
engchuan_15_ASD_discovery_cases-case6010_4
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_cases-case6109_3
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_cases-case6175_6
Unknown
TMLHE-AS1,TMLHE
engchuan_15_ASD_discovery_cases-case6367_5
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_cases-case8437_202
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_cases-case8454_201
Unknown
engchuan_15_ASD_discovery_cases-case8605_202
Unknown
CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850
engchuan_15_ASD_discovery_cases-case8723_201
Unknown
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
firouzabadi_16_ASD_discovery_cases-patient2
qPCR
De novo
Simplex
Likely segregated
RPL18AP16,RN7SL687P,SLC6A8,DUSP9,PNCK,BCAP31
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263985
Maternal
Simplex
Unknown
EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
fry_16_DD/ID/EP/ASD_discovery_cases-caseR198
Unknown
PASD1
gardner_21_DD_discovery_cases-caseDECIPHER279220
De novo
MECP2
gazzellone_14_ASD_discovery_cases-case493-3
Unknown
Unknown
Unknown
gazzellone_14_ASD_discovery_cases-case511-3
Unknown
Unknown
Unknown
gazzellone_14_ASD_discovery_cases-case519-3
Unknown
Unknown
Unknown
OPN1LW,TEX28P2
guo_19_DD/ID_discovery_cases-case21
Unknown
HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
hanchard_12_ASD_discovery_cases-case1
FISH, MLPA
Paternal: epilepsy. Both parents: cognitive processing problems.
Paternal
Multiplex
CNV possibly segregates with epilepsy in pedigree
MECP2
Increased expression of MECP2 and MECP2-TEX26 fusion gene
han_22_ASD/DD/ID_discovery_cases-case15D2529
Maternal
ARHGAP4,TEX28,EMD,FLNA,IRAK1,OPN1MW,HCFC1,TEX28P1,TEX28P2,OPN1MW2,MECP2,MIR718,MIR3202-1,MIR3202-2,HCFC1-AS1,OPN1MW3,RENBP,OPN1LW,RPL10,TKTL1,NAA10,TMEM187
han_22_ASD/DD/ID_discovery_cases-case15D3767
Maternal
AVPR2,ARHGAP4,PDZD4,IRAK1,HCFC1,CYCSP45,TEX28P2,L1CAM,MECP2,MIR718,MIR3202-1,MIR3202-2,HCFC1-AS1,RENBP,OPN1LW,SSR4,NAA10,TMEM187
han_22_ASD/DD/ID_discovery_cases-case16D1672
Unknown
ABCD1,SRPK3,PDZD4,IDH3G,PLXNB3,SSR4,BCAP31
han_22_ASD/DD/ID_discovery_cases-caseY29
Maternal
AVPR2,ARHGAP4,TEX28,IRAK1,OPN1MW,HCFC1,TEX28P1,TEX28P2,OPN1MW2,L1CAM,MECP2,MIR718,MIR3202-1,MIR3202-2,HCFC1-AS1,OPN1MW3,RENBP,OPN1LW,TKTL1,NAA10,TMEM187
hnoonual_17_ASD_discovery_cases-caseRA32
Maternal
hnoonual_17_ASD_discovery_cases-caseRA6
Maternal
AMD1P2,SPRY3,TMLHE-AS1,TMLHE
hu_18_ASD/ADHD_discovery_cases-case1
qPCR
Possibly maternal
Maternal
Possibly mult-generational
Likely segregated
CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,MAGEA2B,CSAG1,NSDHL,MAGEA3,CETN2,ZNF185
Almost 3-fold increase in NSDHL RNA expression compared to normal males
hu_22_ASD_discovery_cases-case4
Unknown
ATP6AP1,DNASE1L1,EMD,FLNA,PLXNA3,FAM3A,G6PD,GDI1,RPL10,MIR6858,TAFAZZIN,RN7SL697P,UBL4A,IKBKG,SLC10A3,LAGE3,FAM50A
iourov_12_ASD/ID/EP_discovery_cases-case23
PCR or qPCR
Unknown
Unknown
Unknown
LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1
iourov_12_ASD/ID/EP_discovery_cases-case32
PCR or qPCR
Unknown
Unknown
Unknown
LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,L1CAM
iourov_12_ASD/ID/EP_discovery_cases-case35
PCR or qPCR
Unknown
Unknown
Unknown
LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,L1CAM
iourov_12_ASD/ID/EP_discovery_cases-case48
PCR or qPCR
Unknown
Unknown
Unknown
RAB39B,H2AFB2,F8A2,MIR1184-2,CLIC2
iourov_12_ASD/ID/EP_discovery_cases-case49
PCR or qPCR
Unknown
Unknown
Unknown
LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,L1CAM
iourov_12_ASD/ID/EP_discovery_cases-case50
Unknown
Unknown
Unknown
EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD
iourov_12_ASD/ID/EP_discovery_cases-case51
PCR or qPCR
Unknown
Unknown
Unknown
KRT18P48,RPL18AP16,RN7SL687P,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,HAUS7
iourov_12_ASD/ID/EP_discovery_cases-case51
PCR or qPCR
Unknown
Unknown
Unknown
EMD,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,OPN1MW3,TEX28
jiao_19_EP/DD/ID_discovery_cases-case63576
Unknown
Unknown
Unknown
HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
jiao_19_EP/DD/ID_discovery_cases-caseDD18009846
De novo
Simplex
Segregated
RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000357
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE,LINC00894
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000638
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AMD1P2,DPH3P2,SPRY3,VAMP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000852
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,OPN1MW3,TEX28
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000911
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TRPC6P,IL9R
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000913
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MAGEA8,MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE,LINC00894
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000933
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE,LINC00894
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001028
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HMGN1P37,H2AFB1,F8A1,MIR1184-1,SMIM9,EEF1A1P31,MPP1,F8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001032
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
AMD1P2,DPH3P2,SPRY3,VAMP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001120
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
WASIR1,IL9R,WASH6P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001144
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TRPC6P,IL9R
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001146
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TRPC6P,IL9R
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001152
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
WASIR1,IL9R,WASH6P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001154
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IL9R
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001157
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IL9R
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001167
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AMD1P2,DPH3P2,SPRY3,VAMP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001168
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TRPC6P,WASIR1,IL9R,WASH6P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001173
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TRPC6P,WASIR1,IL9R,WASH6P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001180
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
WASIR1,IL9R,WASH6P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001194
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
WASIR1,IL9R,WASH6P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001231
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
WASIR1,IL9R,WASH6P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001243
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
WASIR1,IL9R,WASH6P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001256
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
WASIR1,IL9R,WASH6P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001689
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001693
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CMC4,MTCP1,BRCC3,F8,FUNDC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001726
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001745
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28,RPL10
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001766
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001800
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28,RPL10
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001862
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,DDX11L16,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001867
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001868
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CMC4,MTCP1,BRCC3,F8,FUNDC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001869
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CMC4,MTCP1,BRCC3,F8,FUNDC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001912
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28,RPL10
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001924
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MAMLD1,MTM1,MTMR1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001974
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28,RPL10
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001978
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002028
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AMD1P2,DPH3P2,ELOCP24,TRPC6P,SPRY3,VAMP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002092
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,L1CAM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002187
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002386
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
AMD1P2,DPH3P2,ELOCP24,VAMP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002606
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NSDHL,CETN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002685
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IDS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002693
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SLC6A8,PLXNB3,IDH3G,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002777
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002790
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002799
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
IDSP1,IDS,LINC00893
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003986
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004018
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004046
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,LINC00894
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004130
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,MTCP1,VBP1,SPRY3,VAMP7,IL9R,WASH6P,CLIC2,TMLHE-AS1,TMLHE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004283
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,CSAG1,NSDHL,PNMA5,CETN2,ZNF185
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004341
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004382
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,CSAG1,NSDHL,PNMA5,CETN2,ZNF185
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004408
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,SPRY3,VAMP7,IL9R,WASH6P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004417
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004469
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004558
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AMD1P2,DPH3P2,SPRY3,VAMP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004572
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MECP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004604
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CMC4,RAB39B,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004833
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004852
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,LINC00894
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004860
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004949
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005022
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,CSAG1,NSDHL,PNMA5,CETN2,ZNF185
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005057
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005159
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,LINC00894
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005231
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005404
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
kim_18_DD/ID_discovery_cases-case3
De novo
PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
kim_18_DD/ID_discovery_cases-case4
Unknown
RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,L1CAM
krumm_15_ASD_discovery_cases-case11193.p1
Illumina 1M
Maternal
Simplex
Segregated
TMEM185A
krumm_15_ASD_discovery_cases-case11569.p1
Illumina 1M
Maternal
Simplex
Segregated
HMGN1P37,H2AFB1,F8A1,MIR1184-1,SMIM9,EEF1A1P31,MPP1,F8,FUNDC2
krumm_15_ASD_discovery_cases-case11704.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MAGEA1
krumm_15_ASD_discovery_cases-case11733.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
MAGEA1
krumm_15_ASD_discovery_cases-case12798.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
FATE1,CNGA2
krumm_15_ASD_discovery_cases-case13322.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11
krumm_15_ASD_discovery_cases-case13405.p1
1M-Duov3
Maternal
Simplex
Segregated
MTCP1,BRCC3,VBP1
krumm_15_ASD_discovery_cases-case13511.p1
1M-Duov3
Maternal
Simplex
Segregated
PNMA6E,RN7SL667P,ZFP92,TREX2,ZNF275,HAUS7
krumm_15_ASD_discovery_cases-case13762.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
TMEM185A
kushima_18_SCZ_discovery_cases-caseSCZ0186
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
TMLHE-AS1,TMLHE
kushima_18_SCZ_discovery_cases-caseSCZ2140
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
TMLHE-AS1,TMLHE
kushima_22_ASD_discovery_cases-caseASD1265
qRT-PCR
Unknown
AVPR2,ARHGAP4,TEX28,EMD,FLNA,IRAK1,OPN1MW,HCFC1,CYCSP45,TEX28P1,TEX28P2,OPN1MW2,L1CAM,MECP2,MIR718,MIR3202-1,MIR3202-2,HCFC1-AS1,OPN1MW3,RENBP,OPN1LW,RPL10,TKTL1,NAA10,TMEM187
kushima_22_ASD_discovery_cases-caseASD1266
qRT-PCR
Unknown
AVPR2,ARHGAP4,TEX28,EMD,FLNA,IRAK1,OPN1MW,HCFC1,TEX28P1,TEX28P2,OPN1MW2,MECP2,MIR718,MIR3202-1,MIR3202-2,HCFC1-AS1,OPN1MW3,RENBP,OPN1LW,RPL10,TKTL1,NAA10,TMEM187
kushima_22_BPD_discovery_cases-caseBD1289
qRT-PCR
Unknown
CLIC2,F8,FUNDC2,BRCC3,RAB39B,PHF10P1,EEF1A1P31,TWF1P2,H2AB1,MTCP1,CMC4,MIR1184-1,ZNF622P1,VBP1,F8A1,CD84P1,SRD5A2P1
lee_17_ASD/DD/ID/MCA_discovery_cases-case10
Unknown
RPL18AP16,RN7SL687P,SLC6A8,PNCK,BCAP31,ABCD1
lee_17_ASD/DD/ID/MCA_discovery_cases-case17
Unknown
AVPR2,ARHGAP4
lee_17_ASD/DD/ID/MCA_discovery_cases-case27
Unknown
KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1
lee_17_ASD/DD/ID/MCA_discovery_cases-case40
Unknown
RPL18AP16,RN7SL687P,SLC6A8,PNCK,BCAP31,ABCD1
leite_22_DD/ID_discovery_cases-case021
Maternal
ATF4P1,DKC1,CTAG1B,F8,CTAG2,GAB3,IKBKGP1,CTAG1A,FAM223B,ATF4P2,OR3B1P,EEF1A1P31,H2AB1,SNORA56,SNORA36A,HMGN1P37,MPP1,FAM223A,SMIM9,MIR1184-1,ZNF622P1,MIR664B,F8A1,IKBKG
lengyel_20_ASD/DD/ID_discovery_cases-case10
Unknown
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
lengyel_20_ASD/DD/ID_discovery_cases-case3
Unknown
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
lesca_12_EP_discovery_cases-case10-114
qPCR
Maternal
Unknown
Unknown
VBP1
levy_11_ASD_discovery_cases-11092.p1
De novo
Simplex
Segregated
EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
lintas_17_ASD_discovery_cases-case1.3
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Not segregated (CNV only observed in 1/3 affected siblings)
KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,HAUS7,L1CAM
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case25
Unknown
CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,GAB3
li_17_ASD/ID/EP_discovery_cases-caseIII:16
FISH
Maternal
Multi-generational
Segregated
IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28
li_17_ASD/ID/EP_discovery_cases-caseIII:6
Maternal
Multi-generational
Segregated
IDH3G,SSR4,PDZD4,L1CAM,AVPR2,ARHGAP4,NAA10,RENBP,HCFC1,TMEM187,IRAK1,MECP2,OPN1LW,OPN1MW2,OPN1MW,OPN1MW3,TEX28,TKTL1,FLNA
li_17_ASD/ID/EP_discovery_cases-caseIV:1
Maternal
Multi-generational
Segregated
IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,L1CAM,OPN1MW3,TEX28
li_17_ASD/ID/EP_discovery_cases-caseIV:2
Maternal
Multi-generational
Segregated
IDH3G,SSR4,PDZD4,L1CAM,AVPR2,ARHGAP4,NAA10,RENBP,HCFC1,TMEM187,IRAK1,MECP2,OPN1LW,OPN1MW2,OPN1MW,OPN1MW3,TEX28,TKTL1,FLNA
mahjani_22_OCD/CTD_discovery_cases-case10
Unknown
CLIC2,DKC1,F8,FUNDC2,BRCC3,RAB39B,PHF10P1,H2AB2,EEF1A1P31,F8A2,TWF1P2,H2AB1,SNORA56,SNORA36A,HMGN1P37,MPP1,MTCP1,SMIM9,CMC4,MIR1184-1,ZNF622P1,MIR1184-2,MIR664B,VBP1,F8A1,CD84P1,SRD5A2P1
mahjani_22_OCD/CTD_discovery_cases-case11
Unknown
CLIC2,F8,FUNDC2,BRCC3,RAB39B,EEF1A1P31,MTCP1,CMC4,ZNF622P1,VBP1,CD84P1
maini_18_ASD/DD/ID_discovery_cases-case137
Maternal
Not simplex
Unknown
NSDHL,CETN2
maini_18_ASD/DD/ID_discovery_cases-case138
Maternal
Not simplex
Unknown
SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,TAZ,ATP6AP1,PLXNA3,UBL4A,RPL10,DNASE1L1
maini_18_ASD/DD/ID_discovery_cases-case_unknown243
Maternal
Unknown
Unknown
PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1
maini_18_ASD/DD/ID_discovery_cases-case_unknown244
Maternal
Unknown
Unknown
HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD
maini_18_ASD/DD/ID_discovery_cases-case_unknown245
De novo
Unknown
Unknown
MIR3202-1,MIR3202-2,IRAK1,MIR718,TMEM187,MECP2
maini_18_ASD/DD/ID_discovery_cases-case_unknown246
Paternal
Unknown
Unknown
LAGE3,SLC10A3,RN7SL697P,FAM3A,UBL4A,IKBKG,G6PD
maini_18_ASD/DD/ID_discovery_cases-case_unknown247
Paternal
Unknown
Unknown
LAGE3,SLC10A3,RN7SL697P,FAM3A,UBL4A,IKBKG,G6PD
maini_18_ASD/DD/ID_discovery_cases-case_unknown248
De novo
Unknown
Unknown
VBP1
maini_18_ASD/DD/ID_discovery_cases-case_unknown249
De novo
Unknown
Unknown
CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
marshall_08_ASD_discovery_cases-SK0123-004
qPCR, qmPCR
Unknown
NA
NA
IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253606
Unknown
Unknown
Unknown
AMD1P2,DPH3P2,ELOCP24,TRPC6P,SPRY3,VAMP7,IL9R,TMLHE-AS1,TMLHE
nguyen_13_DD/ID/MCA/ASD_discovery_cases-2765
Unknown
Unknown
Unknown
TMEM185A
nord_11_ASD_discovery_cases-316-1
Maternal
AFF2
oikonomakis_16_ASD_discovery_cases-case47
De novo
TCEAL3-AS1,MORF4L2-AS1,TMEM31,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,MORF4L2
pinto_10_ASD_discovery_cases-case14144_2420
qPCR
maternal
Simplex
NA
pinto_10_ASD_discovery_cases-case14186_3050
maternal
Simplex
NA
pinto_10_ASD_discovery_cases-case14198_3220
qPCR
maternal
Simplex
NA
pinto_10_ASD_discovery_cases-case5036_4
Agilent1M
maternal
Multiplex (sib with Aspberger)
NA
IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11
pinto_10_ASD_discovery_cases-case5286_3
qPCR-Maternal,Agilent1M
maternal
Simplex
NA
TMEM185A
pinto_10_ASD_discovery_cases-case5432_3
Agilent1M
maternal
NA
NA
PNMA6A,PNMA6B,MAGEA1
pinto_10_ASD_discovery_cases-case6164_4
qPCR
maternal
Simplex
NA
FLNA exonic, EMD
pinto_14_ASD_discovery_cases2-case20013_1075001
qPCR, LR-PCR (sequencing coordinates: chrX:153,222,048-153,514,311, size 292,264 bp)
De novo
Simplex
(unaffected younger brother and sister, not tested)
EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
pinto_14_ASD_discovery_cases2-case20128_4016001
qPCR
Maternal (X-linked in a male)
Simplex
(no siblings)
TMEM185A
pinto_14_ASD_discovery_cases2-case4166_1
Validation not attempted
Maternal (X-linked in a male)
Simplex
Unknown (not tested)
CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,MAGEA2B,CSAG1,NSDHL,MAGEA3,CETN2
pinto_14_ASD_discovery_cases2-case4354_1
Validation not attempted
Maternal (X-linked in a male)
Simplex
Unknown (not tested)
IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9
prasad_12_ASD_discovery_cases-case100676L
qPCR
Maternal
Unknown
Unknown
ZNF185,CETN2,NSDHL
prasad_12_ASD_discovery_cases-case104196
Unknown
Unknown
Unknown
MAGEA11,LOC100272228,MAGEA8,CXorf40B,HSFX2,MAGEA9,HSFX1,MAGEA9B,TMEM185A
prasad_12_ASD_discovery_cases-case60536L
Unknown
Unknown
Unknown
MAGEA11,LOC100131434,IDS,HSFX2,CXorf40A,MAGEA9,HSFX1,MAGEA9B,TMEM185A
prasad_12_ASD_discovery_cases-case61183L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case64380L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case68797
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case91545L
Unknown
Unknown
Unknown
IL9R
prasad_12_ASD_discovery_cases-case91551L
Unknown
Unknown
Unknown
0 genes
riquin_23_DD_discovery_cases-case27
Maternal
Simplex
SLC6A8
rosenfeld_10_ASD_discovery_cases-case20296
FISH
Unknown
Unknown
Unknown
CETN2,NSDHL,ZNF185,PNMA5
rosenfeld_10_ASD_discovery_cases-case23009
FISH
Maternal
Unknown
Unknown
PDZD4,L1CAM,AVPR2,ARHGAP4,NAA10,RENBP,HCFC1,TMEM187,IRAK1,MECP2
rosenfeld_10_ASD_discovery_cases-case9047
FISH
De novo
Unknown
Unknown
MTM1,MTMR1,CD99L2,HMGB3
sahoo_11_DD_discovery_cases-patient1
FISH
Maternal
Unknown
Unknown
RN7SKP267,AFF2
sahoo_11_DD_discovery_cases-patient2
FISH
Unknown
Multiplex (brothers with speech & language delays)
Unknown
RPL7L1P11,AFF2-IT1,AFF2
sajan_13_ACC/CBLH/PMG_discovery_cases-case1223-0
qPCR
Unknown
Unknown
Unknown
NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2
sajan_13_ACC/CBLH/PMG_discovery_cases-case1223-0
qPCR
Unknown
Unknown
Unknown
EMD,TKTL1,FLNA
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP96-053_LP
Not tested by qPCR
Unknown
Unknown
Unknown
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDR08-020a1
Not tested by qPCR
Unknown
Unknown
Unknown
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-148
qPCR
Maternal
Unknown
Unknown
EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-186
Not tested by qPCR
Unknown
Unknown
Unknown
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sakai_11_ASD_discovery_cases-11092.p1
aCGH (CMA BAC V8.1, Baylor MGL)
De novo
Simplex
NA
EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
sanders_11_ASD_discovery_cases-11073.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11086.p1
Paternal
Simplex (quad-proband matched)
Segregated
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_cases-11092.p1
Unknown
Simplex (quad-proband matched)
Not segregated
EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
sanders_11_ASD_discovery_cases-11110.p1
Maternal
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-11128.p1
Unknown
Simplex (trio)
NA
MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4
sanders_11_ASD_discovery_cases-11144.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_cases-11168.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_cases-11193.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CXorf40A,HSFX3,HSFX2,MAGEA9B,TMEM185A
sanders_11_ASD_discovery_cases-11193.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4
sanders_11_ASD_discovery_cases-11198.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_cases-11220.p1
Both parents
Simplex (quad-proband matched)
Not segregated
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_cases-11232.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_cases-11289.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_cases-11301.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_cases-11309.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_cases-11334.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_cases-11349.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4
sanders_11_ASD_discovery_cases-11349.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CXorf40A,HSFX3
sanders_11_ASD_discovery_cases-11409.p1
Unknown
Simplex (trio)
NA
MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_cases-11437.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_cases-11440.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_cases-11444.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-11479.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_cases-11497.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_cases-11510.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4
sanders_11_ASD_discovery_cases-11540.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11567.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_cases-11569.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HMGN1P37,H2AFB1,F8A1,MIR1184-1,SMIM9,EEF1A1P31,MPP1,F8,FUNDC2
sanders_11_ASD_discovery_cases-11680.p1
Maternal
Simplex (trio)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_cases-11700.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-11704.p1
Unknown
Simplex (trio)
NA
TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,LINC00894
sanders_11_ASD_discovery_cases-11704.p1
Unknown
Simplex (trio)
NA
PNMA6A,PNMA6B,MAGEA1,PNMA3
sanders_11_ASD_discovery_cases-11704.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11704.p1
Unknown
Simplex (trio)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-11714.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_cases-11733.p1
Paternal
Simplex (trio)
NA
PNMA6A,PNMA6B,MAGEA1
sanders_11_ASD_discovery_cases-11782.p1
Maternal
Simplex (trio)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_cases-11914.p1
Unknown
Simplex (trio)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-12010.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
LCA10
sanders_11_ASD_discovery_cases-12097.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12130.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12152.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TMEM185A,MAGEA11
sanders_11_ASD_discovery_cases-12175.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_cases-12260.p1
Unknown
Simplex (trio)
NA
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_cases-12266.p1
Unknown
Simplex (trio)
NA
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_cases-12313.p1
Both parents
Simplex (quad-proband matched)
Not segregated
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_cases-12314.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-12346.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-12369.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12382.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-12541.p1
Unknown
Simplex (quad-proband matched)
Not segregated
F8,FUNDC2
sanders_11_ASD_discovery_cases-12548.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_cases-12594.p1
Both parents
Simplex (trio)
NA
TMLHE
sanders_11_ASD_discovery_cases-12605.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-12607.p1
Maternal
Simplex (trio)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_cases-12623.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PLXNA3
sanders_11_ASD_discovery_cases-12640.p1
Unknown
Simplex (trio)
NA
TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-12667.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_cases-12682.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_cases-12764.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GABRA3
sanders_11_ASD_discovery_cases-12784.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_cases-12792.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-12794.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-12798.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FATE1,CNGA2
sanders_11_ASD_discovery_cases-12828.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12831.p1
Maternal
Simplex (trio)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_cases-12843.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_cases-12879.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_cases-12921.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-12975.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-13015.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13060.p1
Unknown
Simplex (trio)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-13073.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_cases-13097.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13301.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_cases-13322.p1
Unknown
Simplex (quad-proband matched)
Not segregated
IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11
sanders_11_ASD_discovery_cases-13327.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_cases-13337.p1
Unknown
Simplex (trio)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sansovic_17_DD/ID/ASD_discovery_cases-case49
Unknown
CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
sansovic_17_DD/ID/ASD_discovery_cases-case69
De novo
MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
soueid_16_ASD_discovery_cases-caseCLIN35
Maternal
N/A
MAGEA7P,DUTP4,LINC00850
stamouli_18_ASD/NDD_discovery_cases-family50_Twin_1
Unknown
Multiplex
Not segregated (CNV not present in affected twin)
FLNA
stettner_11_ID/ASD_discovery_cases-patient1
Maternal
Multiplex
Segregated
AFF2
stettner_11_ID/ASD_discovery_cases-patient2
Maternal
Multiplex
Segregated
AFF2
streata_22_ASD/DD/ID_discovery_cases-case39
Unknown
CLIC2,ABCD1,AVPR2,ATP2B3,ARHGAP4,AMD1P2,ATP6AP1,BGN,CETN2,ATF4P1,DNASE1L1,TEX28,EMD,DKC1,FLNA,CTAG1B,F8,DUSP9,SRPK3,PNMA3,NSDHL,CTAG2,TMLHE,PLXNA3,HAUS7,PDZD4,FAM3A,GABRQ,FUNDC2,BRCC3,H2AB3,CCNQ,PNMA6A,PNMA5,RAB39B,ZFP92,GAB3,PNCK,CSAG1,PHF10P1,IDH3G,GABRA3,G6PD,IRAK1,OPN1MW,GDI1,HCFC1,IKBKGP1,MAGEA2B,CTAG1A,KRT18P48,FAM223B,ATF4P2,CYCSP45,RPL18AP16,CSAG3,OR3B1P,KRT8P8,MIR105-1,MIR105-2,H2AB2,F8A3,EEF1A1P31,F8A2,TWF1P2,H2AB1,PNMA6E,SNORA56,SNORA36A,PWWP4,HMGN1P37,TEX28P1,PNMA6B,TEX28P2,OPN1MW2,MIR767,HMGN2P48,CSAG4,MAGEA12,MAGEA3,MPP1,MTCP1,MAGEA6,MAGEA1,L1CAM,MECP2,MAGEA2,FAM223A,SMIM9,ELOCP24,CMC4,MIR1184-1,MIR718,ZNF622P1,MIR3202-1,MIR3202-2,MIR1184-2,MIR1184-3,TMLHE-AS1,MIR664B,HCFC1-AS1,OPN1MW3,PLXNB3,RENBP,OPN1LW,RPL10,MIR6858,CSAG2,ECMXP,PNMA6F,DPH3P2,VBP1,SSR4,TAFAZZIN,VAMP7,SLC6A8,RN7SL667P,RNU6-764P,RN7SL697P,RN7SL687P,MAGEA6-DT,TKTL1,UBL4A,F8A1,NAA10,IKBKG,TMEM187,SLC10A3,ZNF185,LAGE3,CD84P1,SRD5A2P1,BCAP31,FAM50A,SPRY3,ZNF275,TREX2
tropeano_16_ASD/NDD_replication_cases-case92
Unknown
Unknown
Unknown
PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
tropeano_16_ASD_discovery_cases-MAAS3
MLPA or aCGH
Unknown
Unknown
Unknown
IDSP1,CXorf40A,IDS,LINC00893
tzetis_12_DD/ID_discovery_cases-case62
Unknown
Unknown
PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
vanmarsenille_13_ID/SCZ_discovery_cases-caseAV1
qPCR
Maternal
Simplex
CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
Increased expression of BRCC3, VBP1, and RAB39B; decreased expression of CLIC2
vanmarsenille_13_ID/SCZ_discovery_cases-caseKM1
qPCR
Unknown
Simplex
CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
vanmarsenille_13_ID/SCZ_discovery_cases-caseT61-II.1
qPCR
Maternal
Multiplex
CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
Increased expression of BRCC3, VBP1, RAB39B, and CLIC2
vanmarsenille_13_ID/SCZ_discovery_cases-caseT61-II.2
Maternal
Multiplex
CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
wenger_16_ASD_discovery_cases-case31
Unknown
EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,RPL10,DNASE1L1,G6PD
willemsen_12_DD/ID_discovery_cases-case15
De novo
RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A,AFF2
willemsen_12_DD/ID_discovery_cases-case31
Maternal
IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A
willemsen_12_DD/ID_discovery_cases-case32
Maternal
IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A
willemsen_12_DD/ID_discovery_cases-case33
Maternal
MAMLD1,MTM1,MTMR1
xu_12_ASD_discovery_cases-patient01A
qPCR, aCGH
Maternal
Multiplex
Segregated
RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28
xu_12_ASD_discovery_cases-patient01B
qPCR, aCGH
Maternal
Multiplex
Segregated
RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28
xu_16_ASD/DD/ID_discovery_cases-case39
Maternal
FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE
yon_17_ASD/ID/EP_discovery_cases-case1
Array SNP (Affymetrix CytoScan HD)
Possibly maternal
Maternal
Possibly multi-generational
Likely segregated
PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,L1CAM
yon_17_ASD/ID/EP_discovery_cases-case2
Array SNP (Affymetrix CytoScan HD)
Possibly maternal
Maternal
Possibly multi-generational
Likely segregated
PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,L1CAM
yuan_23_ASD_discovery_cases-qma01675d000
De novo
MECP2
yuen_17_ASD_discovery_cases-caseAU047703
Not available
Maternal
Multiplex
Possibly segregated
H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
yuen_17_ASD_discovery_cases-caseAU047704
Not available
Maternal
Multiplex
Possibly segregated
H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
yuen_17_ASD_discovery_cases-caseAU3636302
Not available
Maternal
Multiplex
Not segregated
RAB39B
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case239189S
RT-qPCR or WGS
Unknown
RAB39B,F8A2,MIR1184-2,VBP1,CLIC2
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC05132
PCR or SNP data validation
Maternal
PLXNA3
engchuan_15_ASD_discovery_controls-control110036023398_
Unknown
HSFX2,TMEM185AP1,HSFX1,MAGEA9B,TMEM185A,MAGEA11,MAGEA9
engchuan_15_ASD_discovery_controls-control110036024651_
Unknown
PNMA6A,PNMA6B,MAGEA1,PNMA5,PNMA3,PNMA6F
engchuan_15_ASD_discovery_controls-controlB154343_0057061622
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlB159476_1007873588
Unknown
H2AFB2,F8A2,MIR1184-2,CLIC2
engchuan_15_ASD_discovery_controls-controlB267330_1007841417
Unknown
MIR2114,XRCC6P2,MAMLD1,MTM1,MTMR1,LINC00894
engchuan_15_ASD_discovery_controls-controlB326966_1007875802
Unknown
TMEM185A
engchuan_15_ASD_discovery_controls-controlB329167_0067942632
Unknown
CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,MPP1,F8,FUNDC2,CLIC2
engchuan_15_ASD_discovery_controls-controlB395840_1007872297
Unknown
MAGEA1
engchuan_15_ASD_discovery_controls-controlB418695_1007840289
Unknown
MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,CSAG1,NSDHL,CETN2,ZNF185
engchuan_15_ASD_discovery_controls-controlB497682_1007842348
Unknown
TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlB506410_1007874896
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlB520147_1007873599
Unknown
TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA11,MAGEA9,LINC00850
engchuan_15_ASD_discovery_controls-controlB539168_1007853974
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlB565962_1007873333
Unknown
MAGEA1
engchuan_15_ASD_discovery_controls-controlB587867_1007848509
Unknown
IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9
engchuan_15_ASD_discovery_controls-controlB596896_1007850211
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
Unknown
MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlB667665_1007852536
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlB681290_1007874840
Unknown
TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,LINC00894
engchuan_15_ASD_discovery_controls-controlB781862_1007846109
Unknown
PNMA6A,PNMA6B,MAGEA1
engchuan_15_ASD_discovery_controls-controlB784802_1007846124
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlB884573_1007852580
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900060_900060
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900206_900206
Unknown
TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900206_900206
Unknown
HSFX2,MAGEA9B,TMEM185A
engchuan_15_ASD_discovery_controls-controlHABC_900542_900542
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
Unknown
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlHABC_901158_901158
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlHABC_901173_901173
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlHABC_902474_902474
Unknown
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
engchuan_15_ASD_discovery_controls-controlHABC_902762_902762
Unknown
MAGEA1
engchuan_15_ASD_discovery_controls-controlHABC_902947_900179
Unknown
TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA11,MAGEA9,LINC00850
engchuan_15_ASD_discovery_controls-controlHABC_903002_903002
Unknown
TMEM185A,MAGEA11
girirajan_11_ASD_discovery_controls-NIMH_119
Unknown
MAGEA1
girirajan_11_ASD_discovery_controls-NIMH_149
Unknown
IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A
krumm_15_ASD_discovery_controls-control11857.s1
Illumina 1MDuo
Maternal
TMEM185A
krumm_15_ASD_discovery_controls-control12152.s1
Illumina 1MDuo
Maternal
TMEM185A,MAGEA11
krumm_15_ASD_discovery_controls-control12343.s1
Illumina 1MDuo
Maternal
ARHGAP4
krumm_15_ASD_discovery_controls-control12829.s1
Illumina 1MDuo
Maternal
TMEM185A
krumm_15_ASD_discovery_controls-control13171.s1
Illumina 1MDuo
Paternal
PASD1
krumm_15_ASD_discovery_controls-control13322.s1
Illumina 1MDuo
Maternal
IDSP1,CXorf40A,HSFX3,HSFX2,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11
krumm_15_ASD_discovery_controls-control13535.s1
1M-Duov3
Maternal
MAGEA1
krumm_15_ASD_discovery_controls-control14037.s1
Omni2.5-4v1
Maternal
MAGEA11
kushima_18_ASD/SCZ_discovery_controls-controlCON1739
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
TMLHE-AS1,TMLHE
nord_11_ASD_discovery_controls-04C27075
CTAG1A,CTAG1B,NCRNA00204,NCRNA00204B,IKBKG
sanders_11_ASD_discovery_controls-11004.s1
Unknown
Simplex (quad)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_controls-11046.s1
Maternal
Simplex (quad)
NA
AFF2
sanders_11_ASD_discovery_controls-11088.s1
Both parents
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-11168.s1
Maternal
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-11242.s1
Unknown
Simplex (quad)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_controls-11266.s1
Maternal
Simplex (quad)
NA
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_controls-11285.s1
Unknown
Simplex (quad)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_controls-11325.s1
Unknown
Simplex (quad)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_controls-11349.s1
Unknown
Simplex (quad)
NA
CXorf40A,HSFX3
sanders_11_ASD_discovery_controls-11349.s1
Unknown
Simplex (quad)
NA
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_controls-11440.s1
Maternal
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-11490.s1
Both parents
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-11497.s1
Maternal
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-11564.s1
Paternal
Simplex (quad)
NA
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_controls-11571.s1
Both parents
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-11620.s1
Both parents
Simplex (quad)
NA
LINC00894
sanders_11_ASD_discovery_controls-11714.s1
Maternal
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-11724.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11775.s1
Paternal
Simplex (quad)
NA
MAGEA10,MAGEA10-MAGEA5
sanders_11_ASD_discovery_controls-11857.s1
Both parents
Simplex (quad)
NA
TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4
sanders_11_ASD_discovery_controls-11857.s1
Maternal
Simplex (quad)
NA
HSFX2,MAGEA9B,TMEM185A
sanders_11_ASD_discovery_controls-11917.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11999.s1
Maternal
Simplex (quad)
NA
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_controls-12011.s1
Unknown
Simplex (quad)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_controls-12030.s1
Both parents
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-12071.s1
Unknown
Simplex (quad)
NA
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_controls-12086.s1
Unknown
Simplex (quad)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,OPN1MW3,TEX28
sanders_11_ASD_discovery_controls-12121.s1
Both parents
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-12152.s1
Unknown
Simplex (quad)
NA
TMEM185A,MAGEA11
sanders_11_ASD_discovery_controls-12162.s1
Both parents
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-12175.s1
Maternal
Simplex (quad)
NA
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_controls-12180.s1
Both parents
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-12313.s1
Both parents
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-12314.s1
Unknown
Simplex (quad)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_controls-12339.s1
Both parents
Simplex (quad)
NA
CMC4,RAB39B,EEF1A1P31,MTCP1,BRCC3,VBP1,F8,FUNDC2,CLIC2
sanders_11_ASD_discovery_controls-12361.s1
Unknown
Simplex (quad)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_controls-12434.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12497.s1
Paternal
Simplex (quad)
NA
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_controls-12555.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12573.s1
Unknown
Simplex (quad)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_controls-12582.s1
Maternal
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-12598.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12598.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12623.s1
Unknown
Simplex (quad)
NA
PLXNA3
sanders_11_ASD_discovery_controls-12682.s1
Maternal
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-12759.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12787.s1
Maternal
Simplex (quad)
NA
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_controls-12794.s1
Unknown
Simplex (quad)
NA
OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_controls-12796.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12829.s1
Unknown
Simplex (quad)
NA
TMEM185A
sanders_11_ASD_discovery_controls-12832.s1
Both parents
Simplex (quad)
NA
TMLHE-AS1,TMLHE
sanders_11_ASD_discovery_controls-13159.s1
Unknown
Simplex (quad)
NA
TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_controls-13175.s1
Paternal
Simplex (quad)
NA
TEX28P2,OPN1MW,TEX28P1,OPN1MW2
sanders_11_ASD_discovery_controls-13233.s1
Paternal
Simplex (quad)
NA
MAGEA7P,DUTP4,MAGEA8,LINC00850,MAGEA8-AS1
sanders_11_ASD_discovery_controls-13322.s1
Maternal
Simplex (quad)
NA
IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9
soueid_16_ASD_discovery_controls-control14
MAGEA7P,DUTP4,LINC00850
No Animal Model Data Available