HELP     Sign In

3q29CNV Type: Deletion-Duplication


Largest CNV size: 1689956 bp

Statistics Box:
Number of Reports: 55



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.
Deletion
1.3Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Deletion
NA
Deletion
NA
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Duplication
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Duplication
Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?
Deletion
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Duplication
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.
Deletion
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
NA
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 biamino_15_ASD/ID_discovery_cases
 Proband carrying a novel familial 3q29 deletion centromeric to the 3q29 deletion region that segregated with psychiatric disorders (schizophrenia, major depression, anxiety disorder, personality disorder) in the proband's family
 1
 Proband diagnosed with severe autism accompanied with cognitive delay at age of 30 months after evaluation with ADOS module 1 (communication score 9, reciprocal social interaction score 12), CARS (score of 39), and VABS (age-equivalent score of 20 months versus chronological age of 4 years).
 9 yrs.
 Female
 1360000
 1
 0
 1
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 432716
 1
 0
 1
 chilian_13_DD/ID_discovery_cases
 Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
 1
 Severe DD/ID, language impairment, behavioral abnormalities
 5 yrs.
 Male
 124355
 1
 0
 1
 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
 1560000
 1
 0
 1
 citta_13_ID/ASD_discovery_cases
 Patients with 3q29 microdeletions recruited in two different Italian research and care hospitals: IRCCS Oasi Maria Santissima, Troina, and IRCCS Carlo Besta, Milan.
 4
 All four patients met DSM-IV-TR criteria for intellectual disability (ID); cognitive performances assessed using Wechsler Intelligence Scale for Children (WISC-III) or Leiter International Performace Scale -Revised (LIPS-R). One patient with additional comorbidity of PDD-NOS; behavioral performances assessed using Children Behavior Check List (CBCL), adaptive performances assessed using Vineland Behavior Adaptive Scale (VABS).
 Range, 12-14 yrs.
 50% Male
 1607314
 4
 0
 4
 cobb_10_ASD_discovery_cases
 Male patient, fourth of five child born at term gestation to healthy non-consanguineous parents.
 1
 ASD (diagnosis criteria unknown). Additional diagnosis of ADHD (inattentive type), diagnosis tools unknown.
 6.75
 Male
 1300000
 1
 0
 1
 coe_14_ASD/DD/ID_discovery_cases
 Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
 29085
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 1740000
 11
 6
 17
 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
 247667
 2
 0
 2
 davis_12_ASD_discovery_cases
 Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
 1
 Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
 12 yrs.
 Male
 133344
 0
 1
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 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
 1502487
 2
 0
 2
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 22133
 0
 1
 1
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 149164
 0
 2
 2
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 134366
 0
 1
 1
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 NA
 0
 1
 1
 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
 51156
 1
 0
 1
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 119071
 22
 19
 41
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 1610000
 20
 18
 38
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 2153582
 2
 3
 5
 girirajan_13a_DD_discovery_cases
 Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
 31518
 Developmental delay
 NA
 NA
 2153582
 6
 0
 6
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 97905
 10
 25
 35
 handrigan_13_ASD/DD/ID_discovery_cases
 Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
 35
 22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
 Range, 0 mos.-20 yrs.
 48.57% Male
 455116
 0
 2
 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
 4203614
 10
 15
 25
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 94065
 0
 1
 1
 kousoulidou_13_ASD_discovery_cases
 Cypriot patients with ASD or autistic features
 50
 Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
 Range, 3-18 yrs.
 90% Male
 1070000
 1
 0
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 1494502
 2
 1
 3
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 1074625
 4
 3
 7
 kushima_18_ASD_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 1108
 Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
 Median age, 19 years
 78.0% Male
 1692142
 0
 1
 1
 kushima_18_SCZ_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 2458
 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 44 years
 55.0% Male
 1627239
 3
 0
 3
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 500000
 0
 1
 1
 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
 514000
 0
 3
 3
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 1630060
 1
 1
 2
 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
 1672701
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 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
 1442000
 0
 1
 1
 mulle_13_SCZ_discovery_cases_1
 SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
 554
 Diagnosis of schizophrenia based on meeting DSM-IV citeria
 N/A
 N/A
 846088
 1
 0
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 1594000
 1
 0
 1
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
 Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
 6
 Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
 Range, 8-19 yrs.
 83.33% Male
 53687
 0
 3
 3
 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
 
 
 350489
 1
 2
 3
 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
 1704322
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 163625
 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
 701745
 4
 4
 8
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 1666108
 1
 2
 3
 quintero-rivera_10_ASD_discovery_cases
 Two patients (one Caucasian female, one Hispanic male) with 3q29 microdeletions
 2
 Autism, mental retardation/intellectual disability, & psychiatric symptoms
 Range, 10-15 yrs.
 50% Male
 2100000
 2
 0
 2
 reinthaler_14_EP_discovery_cases
 Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
 281
 Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
 N/A
 58.72% Male
 636000
 0
 1
 1
 roberts_13_ASD/DD/ID_discovery_cases
 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
 215
 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
 Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
 65.12% Male
 1700000
 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
 
 
 2438912
 1
 1
 2
 rosenfeld_10_non-ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 21219
 Controls (no diagnosis or indication of ASD)
 
 
 
 1
 0
 1
 sagar_13_ASD/ID_discovery_cases
 Patient with 3q29 deletion from the Simons Simplex Collection previousy described in Sanders et al. 2011 CNV report (sanders_11_ASD_discovery_cases-11079.p1)
 1
 Diagnosis of autism based on meeting criteria on ADOS and ADI-R following enrollment in SSC study at age of 12 years (previous diagnosis of PDD-NOS at age of 4 years); additional diagnoses of intellectual disability (FSIQ of 53 on DAS) and childhood psychosis.
 16 yrs.
 Male
 1580000
 1
 0
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 135371
 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
 1689956
 55
 9
 64
 sato_12_ASD_discovery_cases_1
 Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
 1614
 Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
 NA
 78.07% Male
 126226
 0
 2
 2
 schaefer_10_ASD_discovery_cases
 Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska
 68
 Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.
 
 
 NA
 1
 0
 1
 shen_10_ASD_discovery_cases
 Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
 848
 ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
 
 
 453000
 0
 1
 1
 speevak_11_DD_discovery_cases
 Patient referred to genetics clinic (Dept. of Genetics & Laboratory Medicine, Credit Valley Hospital, Ontario, Canada) for non-syndromic speech delay
 1
 Developmental delay (non-syndromic significant speech delay). Differential diagnosis of ASD ruled out by psychiatric assessment at 3.5 yrs., but no specific diagnosis suggested.
 4.5 yrs.
 Male
 37500
 1
 0
 1
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 126226
 0
 1
 1
 van_den_bossche_12_BPD_discovery_cases
 Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
 676
 Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.
 NA
 NA
 0
 0
 0
 0
 van_den_bossche_12_ID_discovery_cases
 Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.
 260
 Intellectual disability (ID). Cases with total IQ<70 met definition of ID.
 NA
 NA
 0
 0
 0
 0
 van_den_bossche_12_MDD_discovery_cases
 Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
 169
 Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.
 NA
 NA
 0
 0
 0
 0
 van_den_bossche_12_SCZ_discovery_cases
 Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
 1281
 Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.
 NA
 NA
 197000
 2
 0
 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
 5701000
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 147893
 0
 2
 2
 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
 1708000
 1
 0
 1
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  NA NA
 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
 2602669
 3
 1
 4

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 coe_14_ASD/DD/ID_discovery_controls
 Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
 19584
 Control
 N/A
 N/A
 1740000
 0
 2
 2
 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.
 
 
 119071
 0
 0
 0
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 1610000
 0
 0
 0
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls3
 Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
 8329
 Control
 NA
 NA
 0
 0
 0
 0
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 620472
 20
 18
 38
 handrigan_13_ASD/DD/ID_discovery_controls
 Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
 11019
 Control
 NA
 NA
 NA
 NA
 NA
 NA
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 1588611
 0
 1
 1
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 94065
 1
 5
 6
 kousoulidou_13_ASD_discovery_controls
 Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
 130
 Controls
 N/A
 N/A
 0
 0
 0
 0
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 506006
 1
 2
 3
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 509173
 3
 8
 11
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 226184
 1
 1
 2
 mulle_13_SCZ_discovery_controls_1
 Control subjects selected from three cohorts: a study of Crohn's disease in the Ashkenazim, a study of neuromuscular disease in the Ashkenazim, and the Ashkenazi Jewish Control Registry hosted at Johns Hopkins University.
 1014
 Control. Control subjects from Crohn's and neuromuscular cohorts were not screened for psychiatric disease; Ashkenazi Jewish Control Registry subjects administered a questionnaire about psychiatric conditions.
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 409906
 0
 3
 3
 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)
 701745
 0
 0
 0
 reinthaler_14_EP_discovery_controls
 Unscreened population controls
 1512
 Control
 N/A
 49.93% Male
 636000
 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.
 
 283663
 40
 3
 43
 stamouli_18_ASD/NDD_discovery_controls
  NA NA
 Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
 N/A
 N/A
 27886
 0
 2
 2
 van_den_bossche_12_BPD_discovery_controls
 Control individuals from Belgium, Sweden, and Scotland
 1210
 Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
 NA
 NA
 0
 0
 0
 0
 van_den_bossche_12_ID_discovery_controls
 Control individuals from Belgium, Sweden, and Scotland
 1210
 Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
 NA
 NA
 0
 0
 0
 0
 van_den_bossche_12_MDD_discovery_controls
 Control individuals from Belgium, Sweden, and Scotland
 1210
 Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
 NA
 NA
 0
 0
 0
 0
 van_den_bossche_12_SCZ_discovery_controls
 Control individuals from Belgium, Sweden, and Scotland
 1210
 Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
 NA
 NA
 0
 0
 0
 0
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 147893
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 biamino_15_ASD/ID_discovery_cases
  Italy
 aCGH
  Agilent 44K
 ADM-2
 Agilent CGH Analytics v.4.0.81
 Real-time qPCR
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 chilian_13_DD/ID_discovery_cases
  Germany
 aCGH
  Agilent Human Genome CGH Microarray 244A
 
 
 None
 chong_14_DD/ID/ASD/MCA_discovery_cases
  Chinese
 aCGH
  High-resolution 180K oligoarray
 
 
 aCGH (NimbleGen)
 citta_13_ID/ASD_discovery_cases
  Italy
 aCGH, karyotyping, FISH
  Agilent Human Genome CGH Oligo Microarray 60K, 44K, and 180K
 
 
 None
 cobb_10_ASD_discovery_cases
 
 aCGH
  BACS aCGH (ClariSure 1 MB array)
 
 Genepix 6.0, oneClickCGH (Infoquant)
 FISH
 coe_14_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  N/A
 
 
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 davis_12_ASD_discovery_cases
  NA
 Solid phase hybridization
  Illumina Human 1M-Duo DNA Analysis Bead Chip
 PennCNV, QuantiSNP, Gnosis
 CNVision
 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
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 girirajan_13a_DD_discovery_cases
  NA
 N/A
  N/A
 
 
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 handrigan_13_ASD/DD/ID_discovery_cases
  NA
 aCGH, solid phase hybridization
  Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
 
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 kousoulidou_13_ASD_discovery_cases
  Cyprus
 aCGH
  Agilent 400K custom array-CGH
 
 Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
 qPCR
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 kushima_18_ASD_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 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
 
 aCGH (Agilent 244K)
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP, solid phase hybridization
  Multiple platforms (Agilent, Affymetrix, Illumina)
 
 
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 mulle_13_SCZ_discovery_cases_1
  Ashkenazi Jewish
 Array SNP
  Affymetrix 6.0
 GLAD, GADA, BEAST
 Affymetrix power tools software v1.12.0
 qPCR
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 FISH
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 quintero-rivera_10_ASD_discovery_cases
  Caucasian (n=1), Hispanic (n=1)
 Array SNP
  Affymetrix 6.0
 
 
 FISH
 reinthaler_14_EP_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
 PennCNV
 Illumina Genome Viewer
 None
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 rosenfeld_10_non-ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sagar_13_ASD/ID_discovery_cases
  N/A
 Solid phase hybridization
  Illumina Human 1M BeadChip
 
 
 FISH, aCGH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 qPCR
 sato_12_ASD_discovery_cases_1
  Canadian (n=1158) and European (n=456)
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
 DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
 
 None
 schaefer_10_ASD_discovery_cases
 
 aCGH
  Spectral Genomics Constitutional Array, Spectral Chip 2600 Array (1 Mb)
 
 GenePix Pro 6.0, SpectralWare CGH analysis software
 FISH
 shen_10_ASD_discovery_cases
 
 aCGH, array SNP
  Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
 BRLMM, CNAT4, Partek Genomic Suite
 CGH Analytics, DNA Analytics software
 None
 speevak_11_DD_discovery_cases
  NA
 aCGH
  CytoChip 105K array
 
 BlueFuse Multi
 None
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
 
 
 None
 van_den_bossche_12_BPD_discovery_cases
  264 from Belgium, 305 from Sweden, 107 from Scotland
 MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
 MAQ-S (in-house MAQ software package)
 None
 van_den_bossche_12_ID_discovery_cases
  Scotland
 MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
 MAQ-S (in-house MAQ software package)
 None
 van_den_bossche_12_MDD_discovery_cases
  Scotland
 MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
 MAQ-S (in-house MAQ software package)
 None
 van_den_bossche_12_SCZ_discovery_cases
  170 from Belgium, 543 from Sweden, 568 from Scotland
 MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
 MAQ-S (in-house MAQ software package)
 None
 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
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  coe_14_ASD/DD/ID_discovery_controls
  N/A
  aCGH, solid phase hybridization
  Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  girirajan_13a_ASD_discovery_controls1
  NA
  aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
  ADM-2
  Agilent Genomic Workbench
  None
  girirajan_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  None
  girirajan_13a_ASD_discovery_controls3
  NA
  Array SNP
  N/A
 
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  handrigan_13_ASD/DD/ID_discovery_controls
  NA
  N/A
  N/A
 
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
  FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  kousoulidou_13_ASD_discovery_controls
  Cyprus
  aCGH
  Agilent 400K custom array-CGH
 
  Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
 
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  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
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  mulle_13_SCZ_discovery_controls_1
  Ashkenazi Jewish
  Array SNP
  Affymetrix 6.0
  GLAD, GADA, BEAST
  Affymetrix power tools software v1.12.0
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  reinthaler_14_EP_discovery_controls
  German
  Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
  PennCNV
  Illumina Genome Viewer
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  stamouli_18_ASD/NDD_discovery_controls
  Swedish
  Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
  PennCNV, QuantiSNP, iPattern, iPsychCNV
 
  None
  van_den_bossche_12_BPD_discovery_controls
  357 from Belgium, 502 from Sweden, 351 from Scotland
  MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
  MAQ-S (in-house MAQ software package)
  None
  van_den_bossche_12_ID_discovery_controls
  357 from Belgium, 502 from Sweden, 351 from Scotland
  MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
  MAQ-S (in-house MAQ software package)
  None
  van_den_bossche_12_MDD_discovery_controls
  357 from Belgium, 502 from Sweden, 351 from Scotland
  MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
  MAQ-S (in-house MAQ software package)
  None
  van_den_bossche_12_SCZ_discovery_controls
  357 from Belgium, 502 from Sweden, 351 from Scotland
  MAQ
  50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
 
  MAQ-S (in-house MAQ software package)
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  biamino_15_ASD/ID_discovery_cases-probandIV-2
 9 yrs.
 F
 Autism and intellectual disability
 Proband diagnosed with severe autism accompanied with cognitive delay at age of 30 months after evaluation with ADOS module 1 (communication score 9, reciprocal social interaction score 12), CARS (score of 39), and VABS (age-equivalent score of 20 months versus chronological age of 4 years). Birth/neonatal history: pregnancy reported as normal, with exception of a positive Wald test; normal fetal karyotype (46,XX); born by spontaneous delivery at term; birth weight of 3120 g (25th %ile), length of 50 cm (50th %ile), and OFC of 35 cm (75th %ile); Apgar scores 9/10; suffered from GERD and milk protein intolerance since first months of life. Developmental milestones: reached motor milestones within expected range (independent walking at 14 months); initially referred for langauge delay at age of 30 months. EEG: normal. Brain imaging: normal brain MRI. Behavioral/psychiatric evaluation: motor stereotypies and bruxism at last clinical evaluation (age of 9 years), selective eating with no hyperphagia, nocturnal awakenings, occasional self-injuries. Gastrointestinal evaluation: constipation. Dysmorphic features: acanthosis nigricans on neck and armpits, otherwise no evident facial dysmorphisms. Growth parameters: infantile obesity (weight of 53 kg, height of 138 cm, BMI of 27.8) at age of 9 years; normal growth pattern during initial clincial examination at age of 30 months [weight of 14 kg (50th %ile), height of 95 cm (50th %ile), OFC of 48.5 cm (25th %ile)]. Family history: family history remarkable for psychiatric and ophthalmologic disorders that segregate with the 3q29 deletion in this pedigree; proband's mother (III-6) with history of anxiety disorder, major depression, and obesity; two maternal aunts and a brother of the maternal grandmother (individuals III-4, III-5, and II-3 in this family) were institutionalized for schizophrenia; anxiety disorder reported in maternal great-grandmother (I-2); subject III-1 in this family with ASD, social anxiety, and borderline personality disorder; subject II-2 with dysthymia, avoidant personality disorder, and microcephaly; learning disabilities reported for subjects II-3 and III-4; deletion non-carriers III-2 and III-3 had no history of cognitive and psychiatric disorder.
 Severe cognitive delay (Griffith scale total quotient=34) at last clinical evaluation (age of 9 years)
 193329064
 194686656
  1357593
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_replication_cases-case2-1207-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 195299549
 195726122
  426574
 GRCh38
 Deletion
 No
  chilian_13_DD/ID_discovery_cases-case1
 5 yrs.
 M
 Developmental delay/intellectual disability
 Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
 Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
 195631406
 195755761
  124356
 GRCh38
 Deletion
 No
  chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1844
 N/A
 F
 Developmental delay
 Developmental delay
 Developmental delay
 196005085
 197558974
  1553890
 GRCh38
 Deletion
 Yes
  citta_13_ID/ASD_discovery_cases-patient1
 12 yrs.
 M
 Intellectual disability (ID)
 Children Behavioral Check List (CBCL) results (score above 64 equals index of behavioral problems): internalizing, 91; externalizing, 84; total, 66. Vineland Adaptive Behavior Scale (VABS) results (years): communication, 10.0; daily living skills, 9.2; socialization, 10.4; total, 10.0. Birth/neonatal history: delivery at pregnancy week 40; birth weight of 2.850 kg (10th %ile), birth length of 49 cm. Developmental milestones: steady head holding at 3 months, sitting alone at 6 months, walking at 12 months, babbling at 12 months, first word at 15 months. Behavioral/psychiatric evaluation: exhibited both internalizing behaviors (such as withdrawal, anxiety/depression, thought problems) and externalizing behaviors (such as social problems and aggressive behavior) on CBCL test. Skeletal abnormalities and chest wall deformities: brachycephaly and pectus carinatum. EEG: normal. Cardiac defects: none. Ocular abnormalities: yes (not specified). Additional features: joint hyperlaxity; REED nevus. Dysmorphic features: high nasal bridge, large posteriorly rotated ears, long narrow face, high palate. Growth parameters: current weight 75th %ile, current height 75th %ile.
 Mild intellectual disability; IQ score of 63 (WISC-III), similar verbal IQ and performance IQ scores; mainstream school education with support
 196013486
 197583521
  1570036
 GRCh38
 Deletion
 No
  citta_13_ID/ASD_discovery_cases-patient2
 12 yrs.
 F
 Intellectual disability (ID)
 Children Behavioral Check List (CBCL) results (score above 64 equals index of behavioral problems): internalizing, 71; externalizing, 67; total, 71. Vineland Adaptive Behavior Scale (VABS) results (years): communication, 7.0; daily living skills, 6.4; socialization, 5.9; total, 6.4. Birth/neonatal history: delivery at pregnancy week 39; birth weight of 3.250 kg (50th %ile), birth length of 50 cm. Developmental milestones: steady head holding at 3 months, sitting alone at 6 months, walking at 13 months, babbling at 8 months, first word at 12 months. Behavioral/psychiatric evaluation: exhibited both internalizing behaviors (such as withdrawal, anxiety/depression, thought problems) and externalizing behaviors (such as social problems and aggressive behavior) on CBCL test. Skeletal abnormalities and chest wall deformities: brachycephaly and kyphosis. EEG: spikes of right frontal region. Cardiac defects: none. Ocular abnormalities: yes (not specified). Additional features: nasal voice. Dysmorphic features: high nasal bridge, short philtrum, large posteriorly rotated ears, clinodactyly, widely spaced teeth. Growth parameters: current weight 3rd-10th %ile, current height 10th %ile.
 Moderate intellectual disability; IQ score of 48 (WISC-III), verbal IQ score significantly lower than performance IQ score; mainstream school education with support
 196005085
 197612399
  1607315
 GRCh38
 Deletion
 No
  citta_13_ID/ASD_discovery_cases-patient3
 13 yrs.
 M
 Intellectual disability (ID) and PDD-NOS
 Children Behavioral Check List (CBCL) results (score above 64 equals index of behavioral problems): internalizing, 58; externalizing, 53; total, 59. Vineland Adaptive Behavior Scale (VABS) results (years): communication, 5.11; daily living skills, 3.6; socialization, 2.8; total, 3.8. Birth/neonatal history: delivery at pregnancy week 41; birth weight of 2.735 kg (10th %ile), birth length of 47 cm. Developmental milestones: steady head holding at 3 months, sitting alone at 7 months, walking at 15 months, babbling at 8 months, first word at 14 months with subsequent language regression. Behavioral/psychiatric evaluation: exhibited both internalizing behaviors (such as withdrawal, anxiety/depression, thought problems) and externalizing behaviors (such as social problems and aggressive behavior) on CBCL test; patient also showed inattention, repetitive and poorly consistent language production and impaired social interaction suggestive of PDD-NOS. Skeletal abnormalities and chest wall deformities: kyphosis, early closure of fontanelle, pectus carinatum. EEG: poor organization, high amplitude, occasional sequences of slow activity, occasional generalized epileptiform discharges. Cardiac defects: patent foramen ovale. Ocular abnormalities: slight photophobia, ocular fundus, slightly pale optic disc. Additional features: episodes of tremor at birth, possibly due to hypocalcemia; intestinal subocclusion due to Mesenterium Commune; joint hyperlaxity, horseshoe kidney. Dysmorphic features: high nasal bridge, microcephaly, short philtrum, large posteriorly rotated ears, clinodactyly, long narrow face, hypospadias. Growth parameters: current weight 10th-25th %ile, current height 10th-25th %ile.
 Severe intellectual disability; IQ score of 37 (LIPS-R); mainstream school education with support
 N/A
 N/A
  1600000
 NCBI36
 Deletion
 No
  citta_13_ID/ASD_discovery_cases-patient4
 14 yrs.
 F
 Intellectual disability (ID)
 Children Behavioral Check List (CBCL) results (score above 64 equals index of behavioral problems): internalizing, 76; externalizing, 66; total, 73. Vineland Adaptive Behavior Scale (VABS) results (years): communication, 4.3; daily living skills, 2.6; socialization, <1.6; total, 2.8. Birth/neonatal history: delivery at pregnancy week 39; birth weight of 2.200 kg (<3rd %ile), birth length of 47 cm. Developmental milestones: steady head holding at 3 months, sitting alone at 6 months, walking at 17 months, babbling at 9 months, first word at 12 months. Behavioral/psychiatric evaluation: exhibited both internalizing behaviors (such as withdrawal, anxiety/depression, thought problems) and externalizing behaviors (such as social problems and aggressive behavior) on CBCL test; patient had psychotic outburst at age of 8 years; behavior characterized by withdrawal, irritability and oppositive behaviors, poor tolerance of frustration and anxiety, emotional dysregulation with rapid feelings change and non-contextual laughter, stereotyped behavior, immediate echolalia and repetitive and/or telegraphic, incongruent responses at time of evaluation. Skeletal abnormalities and chest wall deformities: none. EEG: normal (slight excess of fast components during sleep). Cardiac defects: none. Ocular abnormalities: yes (not specified). Additional features: slight cerebellar atrophy. Dysmorphic features: high nasal bridge, short philtrum, large posteriorly rotated ears. Growth parameters: current weight 75th %ile, current height 75th-90th %ile.
 Severe intellectual disability; IQ score unable to be evaluated due to neuropsychiatric disorder (Raven Progressive Colored Matrices administered at age of 11 years showed IQ of 50); mainstream school education with support
 196020985
 197612399
  1591415
 GRCh38
 Deletion
 No
  cobb_10_ASD_discovery_cases-case1
 6.75 yrs.
 M
 ASD
 Diagnosed with autism at 3.5 yrs (diagnosis criteria unknown). Diagnosed with ADHD predominantly inattentive type at 6 yrs. 11 mos. Speech delay. Developmental milestones: sat independently at 6.5 months; crawled at 10 months; first words at 15 months; evaluated for speech and pervasive developmental delay at ~3 yrs. Mild facial dysmorphisms: elongated face, down-slanting palpebral fissures, normally set but somewhat prominent ears, high nasal bridge with prominent tip, short but well-delineated philtrum. Ligamentous laxity. Very midly decreased general tone with notable hypermobility of fingers & hands. No gait ataxia. Digit clinodactyly (mild 5th finger bilaterally). Elongated fingers. Growth parameters: weight, 21.6 kg (45th %ile); height, 125 cm (85th %ile); head circumference, 50.5 cm (25th %ile). No family history of learning difficulties, birth defects, or mental retardation; siblings of case in good health with normal intelligence.
 Low-average to average full-scale IQ scores. Stanford-Binet IQ scores (5 yrs.): full-scale IQ 87 (19th %ile, low average), nonverbal IQ 99 (47th%ile, average), verbal IQ 77 (6th %ile, borderline). Weschler Intelligence Scale IQ scores (6 yrs. 11 mos.): full-scale IQ 84 (14th %ile, low average). General Ability Index (GAI) 0f 94 (34th %ile, average). WRAT 4 scores (6 yrs. 11 mos.): math computation score of 80 (9th %ile, K4 grade level), word reading score of 118 (88th %ile, grade 2.8 level). Strengths noted in associative reasoning, vocabulary, spatial organization, individual word reading & sentence comprehension. Weaknesses noted in verbal formulation, working memory tasks, math computation & spelling. Initially startedin pre-school program for autistic children after ASD diagnosis, transitioned to public mainstream kindergarten at 5 yrs., currently in 1st grade with good-to-satisfactory performance in all academic areas.
 196044872
 197358752
  1313881
 GRCh38
 Deletion
 Yes
  coe_14_ASD/DD/ID_discovery_cases-case632
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case633
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case634
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case635
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case636
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case637
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case638
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case639
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case640
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case641
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case642
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case643
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case644
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case645
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case646
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case647
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case648
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 195988732
 197628732
  1640001
 GRCh38
 Duplication
 No
  davis_09_ASD_discovery_cases-AU072004
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: fused ribs
 
 196743818
 196991485
  247667
 Unknown
 Deletion
 No
  davis_09_ASD_discovery_cases-AU072005
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: fused ribs
 
 196743818
 196991485
  247667
 Unknown
 Deletion
 No
  davis_12_ASD_discovery_cases-case1
 12 yrs.
 M
 Autism
 Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
 Vineland adaptive behavior scale, 98 (45th %ile).
 195620156
 195749118
  128963
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299796
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 CNV was inherited from a parent affected with a similar or milder phenotype
 
 193392064
 194686656
  1294593
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300605
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 196051094
 197553580
  1502487
 GRCh38
 Deletion
 Yes
  feliciano_19_ASD_discovery_cases-caseSP0049279
 N/A
 F
 ASD
 Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
 
 197044623
 197066755
  22133
 GRCh38
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1087301
 
 
 Autism
 
 
 198679410
 198828573
  149164
 Unknown
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1087302
 
 
 Autism
 
 
 198679410
 198828573
  149164
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU056803
 
 
 Autism
 
 
 195847296
 195981661
  134366
 Unknown
 Duplication
 No
  gannon_11_ASD/DD_discovery_cases-patientD
 
 
 ASD and/or DD
 Dysmorphic features: unknown
 IQ unknown
 NA
 NA
  NA
 Unknown
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case667-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 192650008
 192701164
  51157
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si1
 12
 M
 Autism
 ADOS score: 8. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 120; Non-verbal IQ, 126.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si117
 10
 M
 Autism
 ADOS score: 9. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.
 195669236
 195769501
  100266
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si122
 8
 F
 Autism
 ADOS score: 6. Vineland composite score: 80.
 No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 122; Non-verbal IQ, 95.
 195669236
 195765787
  96552
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si130
 11
 M
 Autism
 ADOS score: 6. Vineland composite score: 68.
 Mild mental retardation/intellectual disability. Full-scale IQ, 67; Verbal IQ, 54; Non-verbal IQ, 74.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si133
 12
 F
 Autism
 ADOS score: 9. Vineland composite score: 67.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 39; Non-verbal IQ, 59.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si140
 12
 M
 Autism
 ADOS score: 10. Vineland composite score: 64.
 No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 84; Non-verbal IQ, 71.
 195669236
 195731060
  61825
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si152
 12
 M
 Autism
 ADOS score: 9. Vineland composite score: 69.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 94.
 195669236
 195789093
  119858
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si153
 10
 M
 Autism
 ADOS score: 10. Vineland composite score: 75.
 No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 74; Non-verbal IQ, 103.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si155
 13
 M
 Autism
 ADOS score: 8. Vineland composite score: 80.
 No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 120; Non-verbal IQ, 93.
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si170
 18
 M
 Autism
 ADOS score: NA. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 128; Non-verbal IQ, 97.
 195669236
 195766651
  97416
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si174
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 104; Non-verbal IQ, 104.
 195669236
 195719111
  49876
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si178
 7
 M
 Autism
 ADOS score: 9. Vineland composite score: 70.
 Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 64; Non-verbal IQ, 67.
 195669236
 195769501
  100266
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si182
 9
 M
 Autism
 ADOS score: 8. Vineland composite score: 62.
 No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 60; Non-verbal IQ, 92.
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si189
 9
 F
 Autism
 ADOS score: 10. Vineland composite score: 72.
 No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 99; Non-verbal IQ, 119.
 195669236
 195731060
  61825
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si192
 7
 M
 Autism
 ADOS score: 6. Vineland composite score: 85.
 No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 60; Non-verbal IQ, 94.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si217
 10
 M
 Autism
 ADOS score: 7. Vineland composite score: 86.
 No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 82; Non-verbal IQ, 90.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si226
 12
 M
 Autism
 ADOS score: 4. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si227
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 63.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 38; Non-verbal IQ, 57.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si233
 10
 M
 Autism
 ADOS score: 7. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 85; Non-verbal IQ, 114.
 195669236
 195735986
  66751
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si235
 10
 M
 Autism
 ADOS score: 9. Vineland composite score: 95.
 No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 99; Non-verbal IQ, 119.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si243
 12
 M
 Autism
 ADOS score: 10. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 83; Non-verbal IQ, 96.
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si244
 17
 M
 Autism
 ADOS score: 9. Vineland composite score: 58.
 No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 110.
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si247
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 57.
 No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 46; Non-verbal IQ, 93.
 195669236
 195753566
  84331
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si3
 8
 M
 Autism
 ADOS score: 10. Vineland composite score: 110.
 No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 80; Non-verbal IQ, 96.
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si315
 9
 M
 Autism
 ADOS score: 10. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 97; Non-verbal IQ, 89.
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si34
 10
 M
 Autism
 ADOS score: 10. Vineland composite score: 74.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 55; Verbal IQ, 63; Non-verbal IQ, 55.
 195669236
 195789093
  119858
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si343
 11
 M
 Autism
 ADOS score: 8. Vineland composite score: 77.
 No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 72; Non-verbal IQ, 89.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si344
 15
 M
 Autism
 ADOS score: 6. Vineland composite score: 52.
 Severe mental retardation/intellectual disability. Full-scale IQ, 31; Verbal IQ, 28; Non-verbal IQ, 33.
 195669236
 195719111
  49876
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si37
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 82.
 No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 115; Non-verbal IQ, 129.
 195669236
 195719111
  49876
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si40
 16
 M
 Autism
 ADOS score: 7. Vineland composite score: 78.
 No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 82; Non-verbal IQ, 77.
 195669236
 195732699
  63464
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si48
 11
 M
 Autism
 ADOS score: 10. Vineland composite score: 57.
 Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 30; Non-verbal IQ, 45.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si5
 8
 M
 Autism
 ADOS score: 8. Vineland composite score: 63.
 No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 92; Non-verbal IQ, 81.
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si54
 8
 M
 Autism
 ADOS score: NA. Vineland composite score: NA
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si56
 15
 M
 Autism
 ADOS score: 7. Vineland composite score: 64.
 No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 106; Non-verbal IQ, 77.
 195669236
 195753566
  84331
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si62
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 60.
 Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 15; Non-verbal IQ, 49.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si69
 6
 M
 Autism
 ADOS score: 5. Vineland composite score: 62.
 No mental retardation/intellectual disability. Full-scale IQ, 98; Verbal IQ, 95; Non-verbal IQ, 101.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si82
 14
 M
 Autism
 ADOS score: 4. Vineland composite score: 81.
 No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 104; Non-verbal IQ, 100.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si83
 12
 M
 Autism
 ADOS score: 10. Vineland composite score: 64.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 41; Verbal IQ, 40; Non-verbal IQ, 41.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si88
 7
 F
 Autism
 ADOS score: 5. Vineland composite score: 83.
 No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 91; Non-verbal IQ, 94.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si93
 14
 M
 Autism
 ADOS score: 4. Vineland composite score: 80.
 No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 111; Non-verbal IQ, 114.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si94
 14
 M
 Autism
 ADOS score: 8. Vineland composite score: 83.
 No mental retardation/intellectual disability. Full-scale IQ, 137; Verbal IQ, 106; Non-verbal IQ, 146.
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case1940
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1941
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1942
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1943
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1944
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1945
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1946
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1947
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1948
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1949
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1950
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1951
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1952
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1953
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1954
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1955
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1956
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1957
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1958
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1959
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1960
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1961
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1962
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1963
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1964
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1965
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1966
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1967
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1968
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1969
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1970
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1971
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1972
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1973
 NA
 NA
 Developmental delay
 NA
 NA
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case25870
 NA
 NA
 Developmental delay
 Dysmorphic features, seizure disorder, multiple congenital anomalies
 Developmental delay
 196018732
 197628732
  1610001
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case33529
 NA
 NA
 Cardiac defects
 Aberrant subclavian artery
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case42267
 NA
 NA
 Dysmorphic features
 Dysmorphic features
 NA
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case67345
 8 yrs.
 M
 Developmental delay
 Mixed developmental disorder, microcephalus, failure to thrive. Speech delay, ADHD, some sensory issues. Normal tone. Dysmorphic features: bitemporal narrowing, thin nose, epicanthal folds, rotated ears, absent antitragus, small philtrum, high palate. Other features: hypothyroidism, rectal prolapsed. Growth parameters: weight 10th %ile, height 25th-50th %ile, OFC -2.7 SD. Family history: mother has mitral valve prolapse.
 IQ 90
 196018732
 197628732
  1610001
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-13064.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 195581503
 197731977
  2150475
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-13144.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 196811429
 196843407
  31979
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-13746.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 197471446
 197625714
  154269
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-14045.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 196551691
 196556032
  4342
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-AU1087301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 197471446
 197625714
  154269
 GRCh38
 Duplication
 Yes
  girirajan_13a_DD_discovery_cases-DDcase101
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 195581503
 197731977
  2150475
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase102
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 195581503
 197731977
  2150475
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase103
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 195581503
 197731977
  2150475
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase104
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 195581503
 197731977
  2150475
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase105
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 195581503
 197731977
  2150475
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase106
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 195581503
 197731977
  2150475
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-12210113025
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-13107107988
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195736875
  67640
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-1709110692
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-20604100546
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-21409111351
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
 N/A
 195669236
 195731060
  61825
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-24705103861
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195763652
  94417
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-27008110148
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 195669236
 195732699
  63464
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-28208110205
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 195669236
 195719111
  49876
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-28506106267
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-29806106231
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-29905103852
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-29909111597
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-31906106492
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-34904101211
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-34905104010
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195731060
  61825
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-3508108947
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-38105103519
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-40406106815
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-46805104136
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-4709110813
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195719111
  49876
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-51206107184
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-51604101884
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195719111
  49876
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-52904101932
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-55704100868
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-5603100206
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195699052
 195759381
  60330
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-57105104492
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195849961
 195906118
  56158
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-6208109266
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-62104102284
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
 N/A
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-708108819
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195719111
  49876
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-8103100683
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-8405102790
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-8705102962
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-9005102681
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195719111
  49876
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-9405102860
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 195669236
 195746085
  76850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-9907107878
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 195669236
 195766651
  97416
 GRCh38
 Duplication
 No
  handrigan_13_ASD/DD/ID_discovery_cases-patient18
 20 yrs.
 F
 Intellectual disability
 Neurodevelopmental abnormalities: intellectual disability. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
 Intellectual disability
 196233399
 196615552
  382154
 GRCh38
 Duplication
 No
  handrigan_13_ASD/DD/ID_discovery_cases-patient18
 20 yrs.
 F
 Intellectual disability
 Neurodevelopmental abnormalities: intellectual disability. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
 Intellectual disability
 194834085
 195289201
  455117
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000876
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196013486
 197590232
  1576747
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000980
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196013486
 197503306
  1489821
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001057
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196013486
 197590232
  1576747
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001139
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196077857
 197165715
  1087859
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001715
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 195972720
 197658495
  1685776
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002147
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196035777
 197606438
  1570662
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002156
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196035777
 196189197
  153421
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002156
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 197511726
 197833102
  321377
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002337
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 195917073
 196336765
  419693
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002366
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 195997494
 197662231
  1664738
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002773
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196035777
 197658540
  1622764
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003765
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 195965316
 197625573
  1660258
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003907
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196035777
 197662231
  1626455
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003934
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196280954
 197590232
  1309279
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004256
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196013486
 197590232
  1576747
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004313
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196035777
 197625573
  1589797
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004385
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 195755702
 197583580
  1827879
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004618
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 195711798
 197976152
  2264355
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004638
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196013486
 197590232
  1576747
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004747
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196077857
 197693741
  1615885
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004858
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196013486
 197590232
  1576747
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004887
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 195896948
 198110178
  2213231
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005045
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 193917490
 198110319
  4192830
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005073
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196013486
 197590232
  1576747
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005162
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 194424496
 198168758
  3744263
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case1974
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 197744198
 197838262
  94065
 Unknown
 Duplication
 No
  kousoulidou_13_ASD_discovery_cases-patient11
 N/A
 M
 ID and autistic features
 Autistic features. Poor concentration. EEG: normal. Family history: affected father with autistic features.
 Intellectual disability (mild), learning difficulties
 196005085
 197075850
  1070766
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11079.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11079. SRS score of 83.
 Full-scale IQ (FSIQ) score of 53.
 196051941
 197546443
  1494503
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11108.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11108. SRS score of 75.
 Full-scale IQ (FSIQ) score of 104.
 197847408
 197914042
  66635
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case11336.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11336. SRS score of 81.
 Full-scale IQ (FSIQ) score of 123.
 197826877
 197829673
  2797
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11079.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 196471818
 197546443
  1074626
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11079.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 196217841
 196327590
  109750
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11079.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 195895245
 196075360
  180116
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11108.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 197847408
 197914042
  66635
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11859.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 193255650
 193263235
  7586
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13901.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 197781810
 197996282
  214473
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14265.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 197960221
 198003125
  42905
 GRCh38
 Duplication
 Yes
  kushima_18_ASD_discovery_cases-caseASD0434
 14 yrs.
 M
 ASD, ADHD, epilepsy/seizures
 Developmental milestones: motor delay. Motor and musculoskeletal evaluation: motor coordination deficits. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Family history: positive for epilepsy.
 IQ > 70
 195939900
 197632041
  1692142
 GRCh38
 Duplication
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ0094
 30 yrs.
 F
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 15 years of age (core symptoms include auditory hallucinations, persecutory delusions). Physical comorbidities: asthma, atopic dermatitis. Brain imaging: frontal atrophy on brain MRI. EEG: abnormal EEG. Family history: negative.
 IQ > 70
 195990063
 197617301
  1627239
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ0801
 55 yrs.
 F
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 20 years of age (core symptoms include persecutory delusions, auditory hallucinations, negative symptoms). Brain imaging: punctate high intensity lesions in white matter and pituitary gland enlargement on brain MRI. Physical comorbidities: hyperlipidemia. Congenital and developmental phenotypes: low birth weight, patent ductus arteriosus, strabismus, cranial deformation. Family history: positive for Parkinson's disease and suicide.
 IQ > 70
 195990063
 197617301
  1627239
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ2020
 39 yrs.
 M
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 28 years of age (core symptoms include delusions, hallucinations). Family history: positive for schizophrenia (SCZ).
 IQ > 70
 196154147
 197376501
  1222355
 GRCh38
 Deletion
 N/A
  leppa_16_ASD_discovery_cases-AU1042303
 N/A
 N/A
 ASD
 
 
 196966129
 197515129
  549001
 GRCh38
 Duplication
 No
  lesca_12_EP_discovery_cases-case016a
 NA
 M
 Epilepsy + autistic features
 Phenotype: s-CSWSS . Seizure Characteristics: Nocturnal. Autistic features: Yes. ADHD features: Yes. Other features: Global hemi-atrophy of the left hemisphere.
 Initial cognitive development: Delayed. Cognitive regression: No. Verbal IQ 46, performance IQ 50 (at 13 years of age).
 194367828
 194409416
  41589
 GRCh38
 Duplication
 Yes
  lesca_12_EP_discovery_cases-case7-1514
 NA
 M
 Epilepsy
 Phenotype: i-CSWSS. Seizure Characteristics: Mycoclonic, atonic. Autistic features: No. ADHD features: No. Other features: None.
 Initial cognitive development: Normal. Cognitive regression: No.
 192495164
 192634676
  139513
 GRCh38
 Duplication
 Yes
  lesca_12_EP_discovery_cases-case7-1514
 NA
 M
 Epilepsy
 Phenotype: i-CSWSS. Seizure Characteristics: Mycoclonic, atonic. Autistic features: No. ADHD features: No. Other features: None.
 Initial cognitive development: Normal. Cognitive regression: No.
 193152832
 193667233
  514402
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11079.p1
 NA
 M
 ASD
 NA
 NA
 195997095
 197627154
  1630060
 GRCh38
 Deletion
 Yes
  levy_11_ASD_discovery_cases-11108.p1
 NA
 M
 ASD
 NA
 NA
 197837092
 197924839
  87748
 GRCh38
 Duplication
 No
  lionel_13_ASD/ADHD/DD/ID_discovery_cases-case58
 N/A
 F
 Intellectual disability
 Dysmorphic features and congenital anomalies: frontal bossing, craniosynostosis.
 Intellectual disability
 195974314
 197647014
  1672701
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown155
  NA NA
 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)
 
 195192780
 196629012
  1436233
 GRCh38
 Duplication
 No
  mulle_13_SCZ_discovery_cases_1-caseAJ_8986_2
 N/A
 N/A
 Schizophrenia
 N/A
 N/A
 196201397
 197047485
  846089
 GRCh38
 Deletion
 Yes
  nava_13_ASD_discovery_cases-Fam1315Proband433
 4 yrs. 8 mos.
 M
 ASD
 Developmental milestones: age of walking of 16 months, language delay. Epilepsy/seizures: none. Neurological examination: normal. Dysmorphic features: none. Growth parameters: height, weight, and head circumference within normal ranges.
 No ID
 196011535
 197605279
  1593745
 GRCh38
 Deletion
 Yes
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
 N/A
 M
 ASD and intellectual disability
 Developmental milestones: mild delay in walking (18 months); language regression after 2.5 years of age. Language and communication evaluation: non-verbal autism. Behavioral/psychiatric evaluation: non-verbal autism; OCD; irritability; mood disorder; stereotypies. Family history: father affected by mood disorder, anxiety, and chronic alcoholism; father's cousin affected by language delay; mother with autoimmune connective tissue disease.
 Severe intellectual disability
 195693716
 195717322
  23607
 GRCh38
 Duplication
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 N/A
 M
 ASD and ADHD
 Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
 TIQ score of 109
 195692297
 195729669
  37373
 GRCh38
 Duplication
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
 N/A
 M
 Developmental delay
 Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.
 Developmental delay (TIQ score of 54)
 195692297
 195745984
  53688
 GRCh38
 Duplication
 No
  pinto_10_ASD_discovery_cases-case1260_10
 NA
 M
 ASD
 NA
 NA
 199052058
 199402546
  350489
 Unknown
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5065_3
 NA
 M
 Autism
 Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted
 Below average nonverbal IQ (<1%ile)
 197219312
 197527449
  308138
 Unknown
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5542_3
 NA
 M
 ASD
 NA
 NA
 196499613
 196835453
  335841
 Unknown
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case8588_201
 N/A
 M
 ASD
 Autism on ADI-R and ADOS, no language delay, hypotonia during childhood, sleep disorder, no epilepsy. Family history: father with socialization difficulties and rigidity; mother healthy; autistic traits in paternal uncle.
 Average IQ (WISC-III at 14 y: VIQ 87, PIQ 78, FSIQ 81)
 194769492
 196464563
  1695072
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case04HI2755A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1172301; NDAR ID NDAR_INVKH996HE1)
 
 197985794
 198038669
  52876
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI3164A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0597302; NDAR ID NDAR_INVVY213RWC)
 
 195725798
 195749066
  23269
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI3174A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
 
 197511893
 197675517
  163625
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0744A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU007504; NDAR ID NDAR_INVCU989WJU)
 
 195523690
 195579463
  55774
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case122686L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 196502163
 196822333
  320171
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case123422L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 197276356
 197978100
  701745
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case126047
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 195668849
 195739218
  70370
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case138645L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 195847835
 195869640
  21806
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case76066
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 198909674
 198937189
  27516
 Unknown
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case91085L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 197537670
 197561134
  23465
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case99746
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 195717607
 195753225
  35619
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case99746
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 195019470
 195065221
  45752
 Unknown
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_109
 13 yrs.
 F
 Developmental delay/intellectual disability
 Patient originally reported in Quintela et al., 2015b (P1 in that report)
 
 195963356
 197629463
  1666108
 GRCh38
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_245
 10 yrs.
 M
 Developmental delay/intellectual disability
 Patient originally reported in Quintela et al., 2015b (P2 in that report)
 
 195991874
 197617305
  1625432
 GRCh38
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_354
 12 yrs.
 F
 Intellectual disability
 Hypotonia, difficulties in motor skills, social interaction problems. Incomplete parental clinical history.
 Intellectual disability
 196808979
 197933168
  1124190
 GRCh38
 Duplication
 No
  quintero-rivera_10_ASD_discovery_cases-patient1
 10 yrs.
 F
 Autism
 Diagnosis of autism at 5 yrs. Additional diagnosis of bipolar disorder with psychotic features at 10 yrs. Psychiatric symptoms: auditory hallucinations, anger rages, violence towards others. Developmental regression. Speech delay. Delayed walking. Age-appropriate fine motor skills, underdeveloped gross motor skills. Global Assessment of Functioning score: 30/100. Dysmorphic features: bilateral epicanthal folds, high nasal bridge, prominent metopic suture, micrognathia, asymmetrical face, brachy-dolicocpehaly, small mouth and chin with mandibular hypoplasia. Tapered fingers. Growth parameters: height, 139 cm (50-75th %ile); head circumference, 52.5 cm (50th %ile). Family history: father & paternal grandfather with a history of bipolar disorder, maternal cousin diagnosed with ADHD, aunt with anorexia, no psychiatric history in siblings.
 Mental retardation
 195982791
 197611830
  1629040
 GRCh38
 Deletion
 Yes
  quintero-rivera_10_ASD_discovery_cases-patient2
 15 yrs.
 M
 Autism
 Initial diagnosis of autism at 6 yrs confirmed at 9 yrs. Diagnosis of ADHD and failure to thrive at 7 yrs. Developed repetitive behaviors at 2 yrs. Behavioral and psychiatric features: self-injurious behaviors, anxiety, impulsiveness, nervousness, aggression sleep disturbances; behaviors treated with multiple medications. Delayed developmental milestones: walking and first words at 2 yrs., first sentences at 7 yrs. Delay in fine motor skills. Sensitivity to noises & touch. Hypotonia. Dystonic posturing. Scoliosis. Microcephaly. Dysmorphic features: left eye esotropia, ears with simple helices, dentition with poor enamel and mulitple cavities, facial asymmetry & droop, high nasal bridge, high-arched palate, long narrow face. Tapered fingers, slight finger camptodactyly, clinodactyly of toes, restricted flexion & extension of elbows. Abnormal skin pigmentation. Growth parameters: height, 171.4 cm (50-75th %ile); weight, 52 kg (25th %ile); head circumference, 53 cm (<5th %ile). Family history: no family history of autism or psychiatric disease.
 Diagnosed with borderline mental retardation at 7 yrs. Wechsler Intelligence Test for Children (WISC-III) scores at 7 yrs.: full-scale IQ, 77; verbal, 74; performance IQ, 83. Leiter International Performance Scale-Revised score at 5 yrs.: full IQ, 72. Peabody Picture Vocabulary test at 14 yrs.: low-average range. Weakness in reading comprehension (2nd grade level).
 195729073
 197832022
  2102950
 GRCh38
 Deletion
 Yes
  reinthaler_14_EP_discovery_cases-caseAVRE02
 N/A
 M
 Epilepsy
 Epilepsy phenotype: rolandic epilepsy.
 
 195733678
 196369580
  635903
 GRCh38
 Duplication
 No
  roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase9
 8 yrs.
 F
 Learning disability (developmental delay/intellectual disability)
 Dysmorphism
 
 195963101
 197631263
  1668163
 GRCh38
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case15066
 NA
 NA
 ASD
 NA
 NA
 198615692
 199230435
  614743
 Unknown
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case17184
 NA
 NA
 ASD
 NA
 NA
 194057893
 196496805
  2438912
 Unknown
 Deletion
 Yes
  sagar_13_ASD/ID_discovery_cases-case1
 16 yrs.
 M
 Autism
 Case was previousy described in Sanders et al. 2011 CNV report (sanders_11_ASD_discovery_cases-11079.p1). Diagnosis of autism based on meeting criteria on ADOS and ADI-R following enrollment in SSC study (case previoulsy diagnosed with PDD-NOS around age of 4 years). Birth/neonatal history: uncomplicated pregnancy; vaginal birth at gestational age of 40 weeks; birth weight 50th %ile, birth length 95th %ile; difficulties regulating temperature at birth; gastroesophageal reflux as infant; hypotonia and difficulty bearing weight at 6-9 months of age; abnormal movements of arms and legs; diagnosed with possible phenylketonuria and possible Tourette's syndrome. Language and communication evaluation: Peabody Picture Vocabulary Test 4 (PPVT4) administrated to assess receptive language (standard score of 87; mean 100, SD 15). Motor and musculoskeletal evaluation: choreoathetoid at age of 2 years; evaluation by pediatric neurologist at 2 years of age noted mild asymmetries on the right including abnormal gait, brisker reflexes on right, upgoing toe on right, tendency to circumduct right foot during gait testing, some delay of right compared to left sided smile. Behavioral/psychiatric evaluation: tics, obsessive compulsive behaviors, and stereotyped movements at 2 years of age; diagnosis of Sydenham chorea and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS) considereed at around 4 years of age (due to worsening of abnormal movements and tics with pharyngitis); chicken pox at age of 5 years reported to have led to onset of childhood psychosis; history of psychotic symptoms included auditory and visual hallucinations. Other features: severity of movement disorder led to fractures of ulna and at least one toe before age of 5 years; severe presentation of antipsychotic withdrwaral dyskinesia noted on examination at age of 16 years (after many medication trials, treatment with loxapine led to improvement; exacerbation of symptoms at age of 16 years led to discontinuation of loxapine and subsequent withdrawal dyskinesia); Abnormal Involuntary Movements Scale (AIMS) score of 25 (max score of 40). Brain imaging: normal brain MRI (at age of 2 years). Dysmorphic features: dysmorphic pinnae, wide and high nasal bridge, pectus excavatum. Growth parameters: not reported. Family history: nonconsanguienous healthy parents; family history significant for bipolar disorder in maternal aunt.
 Intellectual disability; full-scale IQ of 53 on Differential Abilities Scales (DAS) 2nd edition (mean 100, SD 15); overall adaptive behavior composite standard score of 64 on Vineland II (mean 100, SD 15).
 196013531
 197590232
  1576702
 GRCh38
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 197842688
 197978058
  135371
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11039.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 43; verbal IQ 29
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11079.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
 195949805
 197639761
  1689957
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11099.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11108.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
 197838124
 197921554
  83431
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11114.p1
 8.8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11133.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
 197985888
 198111391
  125504
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11135.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11158.p1
 10.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11167.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11202.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11270.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47
 198072067
 198137592
  65526
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11277.p1
 10.2
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11289.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11304.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 61; verbal IQ, 47
 196473866
 196476395
  2530
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11336.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
 197823908
 197829263
  5356
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11375.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 115; verbal IQ, 93
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11376.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11412.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 119; verbal IQ, 85
 193418687
 193430105
  11419
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11447.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11453.p1
 8.8
 M
 ASD
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
 198078659
 198129562
  50904
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11463.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 98; verbal IQ, 79
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11464.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11465.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 73; verbal IQ, 95
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11468.p1
 10.7
 M
 Aspergers
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11485.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11495.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11509.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 83; verbal IQ, 80
 193617202
 193651674
  34473
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11550.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 99
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11612.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 90; verbal IQ, 79
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11677.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
 193418687
 193422559
  3873
 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
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11721.p1
 4.8
 M
 ASD
 NA
 Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11775.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
 198067034
 198137592
  70559
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11939.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11981.p1
 6.6
 F
 Aspergers
 NA
 Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12006.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 104; verbal IQ, 50
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12014.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12033.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12052.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12060.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12117.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12330.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
 197390615
 197391716
  1102
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12330.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12332.p1
 12.3
 M
 ASD
 NA
 Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12343.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12359.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12460.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
 197006634
 197012082
  5449
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12469.p1
 10.7
 M
 Aspergers
 NA
 Full-scale IQ, 125; non-verbal IQ, 105; verbal IQ, 151
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12581.p1
 12.4
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12591.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 69
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12595.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 122; verbal IQ, 108
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12598.p1
 17.4
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 83; verbal IQ, 34
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12648.p1
 9.8
 F
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12701.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12722.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12787.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
 197985888
 198137592
  151705
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12944.p1
 7.9
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13010.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 122; verbal IQ, 99
 193418687
 193426029
  7343
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13041.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
 194793379
 195152900
  359522
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13083.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13120.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 109; verbal IQ, 118
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13175.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13251.p1
 7.7
 F
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
 198084813
 198111391
  26579
 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
 193418687
 193422559
  3873
 GRCh38
 Deletion
 No
  sato_12_ASD_discovery_cases_1-family1caseIII-5
 32 yrs.
 M
 Asperger
 Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
 Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
 195627053
 195748896
  121844
 GRCh38
 Duplication
 No
  sato_12_ASD_discovery_cases_1-family1caseIII-5
 32 yrs.
 M
 Asperger
 Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
 Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
 193153822
 193166667
  12846
 GRCh38
 Duplication
 No
  schaefer_10_ASD_discovery_cases-case2
 NA
 M
 Autism
 Complex (syndromic) autism. Behavior problems. Pectus excavatum, aberrant hair whorl, widow's peak.
 Mental retardation
 NA
 NA
  NA
 Unknown
 Deletion
 Yes
  shen_10_ASD_discovery_cases-ASD-09-037
 NA
 M
 ASD
 NA
 NA
 197158988
 197612458
  453471
 GRCh38
 Duplication
 No
  speevak_11_DD_discovery_cases-case1
 4.5 yrs.
 M
 Developmental delay/speech delay
 Developmental milestones: significant speech delay (first words at 2 yrs.; at 4.5 yrs., patient was only able to use a few words in a sentence, which were not easily understood). Behavioral characteristics: aggressive behavior, autistic traits (spitting and rocking with excessive hand movements and solitary play noted at 3.5 yrs.; however, a differential diagnosis of ASD ruled out by psychiatric assessment at the time, but no specific diagnosis was suggested). Dysmorphic features: no major dysmorphic or congenitally abnormal features, other than mild 2-3 toe syndactyly. Growth parameters: height, 90th %ile; wieght, 50th %ile; head circumference, 10th %ile.
 
 195674866
 195711828
  36963
 GRCh38
 Deletion
 No
  vaags_11_ASD_discovery_cases-probandF2-003
 3 yrs. 5 mos.
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 195627053
 195748896
  121844
 GRCh38
 Duplication
 No
  van_den_bossche_12_SCZ_discovery_cases-Zas8751
 21
 M
 SCZ
 Age of onset: 12.
 
 196584423
 196781581
  197159
 GRCh38
 Deletion
 No
  van_den_bossche_12_SCZ_discovery_cases-Zas8756
 56
 M
 SCZ
 Age of onset: 23. Dementia diagnosis.
 
 196584423
 196781581
  197159
 GRCh38
 Deletion
 No
  xu_16_ASD/DD/ID_discovery_cases-case4
 N/A
 N/A
 Developmental delay
 Primary diagnosis of developmental delay based on DQ scores.
 
 192599518
 198235559
  5636042
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case159
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 194514724
 194517661
  2938
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case160
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 195826388
 195974280
  147893
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-case2-1702-004
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: allergies; anxiety; asthma; sensory problems; low tone - hand and extremities, odd gait; broken clavical during delivery, jaundice; astigmatism in one eye, Raynaud's phenomenon; aortic bicuspid valve with slight regigitation; heart murmur
 
 195747129
 197455129
  1708001
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0738-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 197288783
 197629463
  340681
 GRCh38
 Duplication
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case11-0025-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 196788286
 196825276
  36991
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case11-0029-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 196794253
 196825276
  31024
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1702-004
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 194853119
 197449645
  2596527
 GRCh38
 Deletion
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  coe_14_ASD/DD/ID_discovery_controls-control70
  N/A
  N/A
  Control
  N/A
  N/A
  195988732
  197628732
  1640001
  GRCh38
  Duplication
  No
  coe_14_ASD/DD/ID_discovery_controls-control71
  N/A
  N/A
  Control
  N/A
  N/A
  195988732
  197628732
  1640001
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-10208109404
  N/A
  N/A
  Control
  Ethnicity: Asian
  N/A
  195669236
  195746085
  76850
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-11406105845
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195719111
  49876
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-11510113081
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195699052
  195763652
  64601
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-12508109518
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195731060
  61825
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-14710112915
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195765609
  96374
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-20308109922
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  195700099
  195769501
  69403
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-23107108218
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195719111
  49876
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-25204100801
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  196928822
  196988730
  59909
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-2608108900
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  195669236
  195746085
  76850
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-26405103148
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  195669236
  195719111
  49876
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-28706106413
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195732699
  195790002
  57304
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-30109111610
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195732699
  63464
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-31207108545
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195731060
  61825
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-31407108557
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  195669236
  195719111
  49876
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-33409111730
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  195669236
  195719111
  49876
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-34306106585
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195699052
  195763652
  64601
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-37209111863
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195719111
  49876
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-38206106769
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195746085
  76850
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-38308110558
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  195669236
  195789093
  119858
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-38606106778
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195735986
  66751
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-39306106798
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195719111
  49876
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-40005104405
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  195669236
  195738276
  69041
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-43206106894
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195746085
  76850
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-45304101644
  N/A
  N/A
  Control
  Ethnicity: African American
  N/A
  195669236
  195731060
  61825
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-46006106980
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195731060
  61825
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-48906107104
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  195669236
  195719111
  49876
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-4906105609
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195719111
  49876
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-54206107480
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  195700099
  195769501
  69403
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-54305104360
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  195669236
  195719111
  49876
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-54606107478
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195719111
  49876
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-55105104410
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195731060
  61825
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-6007107751
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195746085
  76850
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-606105484
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195719111
  49876
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-6106105636
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195719111
  49876
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-6608109280
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  197599185
  198219657
  620473
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-66404102339
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  195669236
  195746085
  76850
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-6808109293
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  195700099
  195790002
  89904
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-9409110993
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  195669236
  195719111
  49876
  GRCh38
  Deletion
  No
  kaminsky_11_DD/ID/ASD_discovery_controls-control0065
  NA
  NA
  Control
  Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
  NA
  196029183
  197617794
  1588612
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1158
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  197806662
  197817520
  10859
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1391
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  197744198
  197838262
  94065
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1494
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  197806662
  197838262
  31601
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1525
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  197744198
  197838262
  94065
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1689
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  196167930
  196170061
  2132
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split2081
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  197811684
  197838262
  26579
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11336.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11336. SRS score of 45.
 
  197826877
  197829673
  2797
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control13169.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 13169. SRS score of 40.
 
  197511894
  197533561
  21668
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13169.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 13169. SRS score of 40.
 
  195226708
  195726572
  499865
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11158.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  196730991
  196828405
  97415
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11208.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  195579338
  195757328
  177991
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11365.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  197514263
  197546443
  32181
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11488.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  195069714
  195156581
  86868
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12274.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  194623223
  194633215
  9993
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13169.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  197297185
  197546443
  249259
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13169.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  195226708
  195729739
  503032
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13287.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  197912674
  197974474
  61801
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13854.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  197999265
  198077588
  78324
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13901.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  197781810
  197996282
  214473
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14197.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  195729643
  195778457
  48815
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11365.s1
  NA
  F
  Control
  NA
  NA
  197349650
  197575833
  226184
  GRCh38
  Deletion
  No
  levy_11_ASD_discovery_controls-11488.s1
  NA
  M
  Control
  NA
  NA
  194960667
  195165147
  204481
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C27077A
  N/A
  M
  Control
  NIMH Control (NIMH ID 74430)
 
  197136540
  197546445
  409906
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C27077A
  N/A
  M
  Control
  NIMH Control (NIMH ID 74430)
 
  195516894
  195579463
  62570
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C39645A
  N/A
  F
  Control
  NIMH Control (NIMH ID 69540)
 
  195872274
  195888608
  16335
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11038.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11086.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11099.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11108.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11234.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  198008009
  198014865
  6857
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11307.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11310.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  193416970
  193422559
  5590
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11328.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11339.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11365.s1
  13.1
  F
  Control (matched sibling)
  NA
  NA
  197348850
  197573881
  225032
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11375.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193430105
  11419
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11376.s1
  23.8
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11412.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11447.s1
  8.4
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11488.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  194968684
  195156783
  188100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11494.s1
  19.3
  M
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11526.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11542.s1
  14.6
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11550.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193426029
  7343
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11667.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11793.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11939.s1
  12.4
  M
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  195196302
  195200528
  4227
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11981.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12014.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12060.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12359.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12441.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12494.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12561.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12581.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12638.s1
  17.8
  F
  Control (matched sibling)
  NA
  NA
  192881547
  192891927
  10381
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12648.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12722.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12788.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13005.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13010.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  193418687
  193426029
  7343
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13169.s1
  16
  M
  Control (matched sibling)
  NA
  NA
  197336437
  197620100
  283664
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13175.s1
  13.7
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13251.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  198084813
  198137592
  52780
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13296.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  192881547
  192891927
  10381
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13322.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  193418687
  193422559
  3873
  GRCh38
  Deletion
  No
  stamouli_18_ASD/NDD_discovery_controls-family42_Twin_2
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
 
  195866951
  195878463
  11513
  GRCh38
  Duplication
  No
  stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
  N/A
  N/A
  Control
  Control is from a dizygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
 
  195866951
  195894836
  27886
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 biamino_15_ASD/ID_discovery_cases-probandIV-2
 Real-time qPCR
 Maternal
 Maternal
 Multi-generational
 Segregated
 ATP13A4-AS1,RN7SL447P,LINC02038,DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,OPA1-AS1,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,ATP13A5,ATP13A4,OPA1,LINC02036,LINC02037,LINC00884,LSG1,LINC02026
 
 brandler_18_ASD_replication_cases-case2-1207-003
 No validation step reported
 
 Maternal
 
 
 RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,ACAP2,MUC20-OT1
 
 chilian_13_DD/ID_discovery_cases-case1
 
 
 Unknown
 Possibly simplex (no info on 1st child)
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1844
 Nimblegen aCGH
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 citta_13_ID/ASD_discovery_cases-patient1
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 citta_13_ID/ASD_discovery_cases-patient2
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 citta_13_ID/ASD_discovery_cases-patient3
 
 
 Unknown
 Unknown
 Unknown
 Estimated gene content: TFRC,ZDHHC19,SLC51A,PCYT1A,TCTEX1D2,TM4SF19,UBXN7,RNF168,C3orf43,WDR53,FBXO45,NRROS,CEP19,PIGX,PAK2,SENP5,NCBP2,PIGZ,MFI2,DLG1,BDH1
 
 citta_13_ID/ASD_discovery_cases-patient4
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 cobb_10_ASD_discovery_cases-case1
 FISH
 
 De novo
 Simplex
 NA
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case632
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case633
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case634
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case635
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case636
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case637
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case638
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case639
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case640
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case641
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case642
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case643
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case644
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case645
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case646
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case647
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 coe_14_ASD/DD/ID_discovery_cases-case648
 
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 davis_09_ASD_discovery_cases-AU072004
 
 
 Unknown
 Unknown
 Unknown
 MUC4, MUC20, PPP1R2
 
 davis_09_ASD_discovery_cases-AU072005
 
 
 Unknown
 Unknown
 Unknown
 MUC4, MUC20, PPP1R2
 
 davis_12_ASD_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown
 MUC20P1,MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299796
 qPCR
 Maternal
 Maternal
 Multi-generational
 
 ATP13A4-AS1,RN7SL447P,LINC02038,DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,OPA1-AS1,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,ATP13A4,OPA1,LINC02036,LINC02037,LINC00884,LSG1,LINC02026
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300605
 qPCR
 
 De novo
 
 
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 feliciano_19_ASD_discovery_cases-caseSP0049279
 
 
 Paternal
 
 
 DLG1
 null
 gai_11_ASD_discovery_cases-AU1087301
 
 
 Inherited
 
 
 BDH1, LOC220729
 
 gai_11_ASD_discovery_cases-AU1087302
 
 
 Inherited
 
 
 BDH1, LOC220729
 
 gai_11_ASD_replication_cases-AU056803
 
 
 Inherited
 
 
 LSG1, FAM43A
 
 gannon_11_ASD/DD_discovery_cases-patientD
 
 
 Unknown
 Unknown
 
 NA
 
 gazzellone_14_ASD_discovery_cases-case667-3
 
 
 Unknown
 Unknown
 Unknown
 FGF12
 
 girirajan_11_ASD_discovery_cases-Si1
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si117
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si122
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si130
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si133
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si140
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si152
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si153
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si155
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si170
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si174
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si178
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si182
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si189
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si192
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si217
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si226
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si227
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si233
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si235
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si243
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si244
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si247
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si3
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si315
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si34
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si343
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si344
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si37
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si40
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si48
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si5
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si54
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si56
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si62
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si69
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si82
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si83
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si88
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si93
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_11_ASD_discovery_cases-Si94
 
 
 Unknown
 Simplex
 
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1940
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1941
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1942
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1943
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1944
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1945
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1946
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1947
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1948
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1949
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1950
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1951
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1952
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1953
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1954
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1955
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1956
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1957
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1958
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1959
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1960
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1961
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1962
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1963
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1964
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1965
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1966
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1967
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1968
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1969
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1970
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1971
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1972
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case1973
 NA
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case25870
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case33529
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case42267
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case67345
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_13a_ASD_discovery_cases-13064.p1
 aCGH (NimbleGen 135K array)
 
 De novo
 Simplex
 Possibly segregated
 MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_13a_ASD_discovery_cases-13144.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 PAK2
 
 girirajan_13a_ASD_discovery_cases-13746.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 LINC02012,BDH1
 
 girirajan_13a_ASD_discovery_cases-14045.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 WDR53
 
 girirajan_13a_ASD_discovery_cases-AU1087301
 aCGH (NimbleGen 135K array)
 
 Paternal
 Multiplex
 Unknown
 LINC02012,BDH1
 
 girirajan_13a_DD_discovery_cases-DDcase101
 
 
 Unknown
 
 
 MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_13a_DD_discovery_cases-DDcase102
 
 
 Unknown
 
 
 MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_13a_DD_discovery_cases-DDcase103
 
 
 Unknown
 
 
 MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_13a_DD_discovery_cases-DDcase104
 
 
 Unknown
 
 
 MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_13a_DD_discovery_cases-DDcase105
 
 
 Unknown
 
 
 MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_13a_DD_discovery_cases-DDcase106
 
 
 Unknown
 
 
 MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 girirajan_13b_ASD_discovery_cases-12210113025
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-13107107988
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-1709110692
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-20604100546
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-21409111351
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-24705103861
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-27008110148
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-28208110205
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-28506106267
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-29806106231
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-29905103852
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-29909111597
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-31906106492
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-34904101211
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-34905104010
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-3508108947
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-38105103519
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-40406106815
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-46805104136
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-4709110813
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-51206107184
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-51604101884
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-52904101932
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-55704100868
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-5603100206
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-57105104492
 
 
 Unknown
 Unknown
 Unknown
 MIR6829,LINC01983,TNK2
 
 girirajan_13b_ASD_discovery_cases-6208109266
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-62104102284
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-708108819
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-8103100683
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-8405102790
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-8705102962
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-9005102681
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-9405102860
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
 girirajan_13b_ASD_discovery_cases-9907107878
 
 
 Unknown
 Unknown
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 handrigan_13_ASD/DD/ID_discovery_cases-patient18
 
 
 Unknown
 Unknown
 Unknown
 TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,SLC51A,PCYT1A,RNF168
 
 handrigan_13_ASD/DD/ID_discovery_cases-patient18
 
 
 Unknown
 Unknown
 Unknown
 XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,XXYLT1-AS2,ACAP2-IT1,XXYLT1,ACAP2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000876
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000980
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001057
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001139
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001715
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002147
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002156
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RNU7-18P,TFRC,LINC00885
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002156
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MIR922,RUBCN,FYTTD1,LRCH3,BDH1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002337
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU2-11P,RNU7-18P,TM4SF19-AS1,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,SLC51A,PCYT1A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002366
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002773
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003765
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003907
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003934
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004256
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004313
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004385
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004618
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004638
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004747
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004858
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004887
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005045
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,LINC01972,XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,LINC02036,LINC02037,LINC00884,LSG1,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,LINC02026,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005073
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005162
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,LINC01972,XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TUBB8P8,ATP13A3,TMEM44,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,LINC00884,LSG1,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,DLG1,FAM157A
 
 kanduri_15_ASD_discovery_cases-case1974
 
 
 Paternal
 Unknown
 Unknown
 LMLN
 
 kousoulidou_13_ASD_discovery_cases-patient11
 qPCR
 Paternal
 Paternal
 Unknown
 Possibly segregated (deletion inherited from father with autistic features)
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
 
 krumm_13_ASD_discovery_cases-case11079.p1
 Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
 
 De novo
 Simplex
 Segregated
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 krumm_13_ASD_discovery_cases-case11108.p1
 
 
 Maternal
 Simplex
 Segregated
 RNU6-858P,LRCH3,IQCG
 
 krumm_13_ASD_discovery_cases-case11336.p1
 
 
 Maternal
 Simplex
 Not segregated
 LRCH3
 
 krumm_15_ASD_discovery_cases-case11079.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 krumm_15_ASD_discovery_cases-case11079.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 TM4SF19-AS1,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,SLC51A,PCYT1A
 
 krumm_15_ASD_discovery_cases-case11079.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 TNK2-AS1,RNU2-11P,RNU7-18P,TNK2,SDHAP1,TFRC
 
 krumm_15_ASD_discovery_cases-case11108.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 RNU6-858P,LRCH3,IQCG
 
 krumm_15_ASD_discovery_cases-case11859.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 HRASLS
 
 krumm_15_ASD_discovery_cases-case13901.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 RNU6-858P,RNU6-621P,FYTTD1,LRCH3,RPL35A,LMLN,IQCG
 
 krumm_15_ASD_discovery_cases-case14265.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 RNU6-621P,LMLN
 
 kushima_18_ASD_discovery_cases-caseASD0434
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Not simplex
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kushima_18_SCZ_discovery_cases-caseSCZ0094
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 De novo
 Simplex
 Segregated
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kushima_18_SCZ_discovery_cases-caseSCZ0801
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 De novo
 
 
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 kushima_18_SCZ_discovery_cases-caseSCZ2020
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Not simplex
 Unknown
 TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
 
 leppa_16_ASD_discovery_cases-AU1042303
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected sibling)
 MIR4797,DLG1-AS1,LINC02012,PIGZ,RPSAP69,MELTF,MELTF-AS1,BDH1,DLG1
 
 lesca_12_EP_discovery_cases-case016a
 qPCR
 
 Maternal
 Unknown
 Unknown
 LRRC15,GP5,ATP13A3
 
 lesca_12_EP_discovery_cases-case7-1514
 qPCR
 
 Maternal
 Unknown
 Unknown
 FGF12-AS2,FGF12-AS3,FGF12
 
 lesca_12_EP_discovery_cases-case7-1514
 qPCR
 
 Maternal
 Unknown
 Unknown
 VEZF1P1,ATP13A5-AS1,ATP13A4-AS1,HRASLS,OPA1-AS1,ATP13A5,ATP13A4,OPA1
 
 levy_11_ASD_discovery_cases-11079.p1
 aCGH (Agilent 244K)
 
 De novo
 Simplex
 Segregated
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 levy_11_ASD_discovery_cases-11108.p1
 
 
 Maternal
 Simplex
 Segregated
 RNU6-858P,LRCH3,IQCG
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases-case58
 
 
 Unknown
 
 
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown155
 
 
 De novo
 Unknown
 Unknown
 RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168
 
 mulle_13_SCZ_discovery_cases_1-caseAJ_8986_2
 qPCR
 
 De novo
 Unknown
 Unknown
 TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
 
 nava_13_ASD_discovery_cases-Fam1315Proband433
 FISH
 
 De novo
 Simplex
 Likely segregated
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
 
 
 Unknown
 Multi-generational
 Unknown
 MIR570,SMBD1P,MUC20-OT1
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 
 
 Maternal
 Multi-generational
 Unknown
 MIR570,SMBD1P,MUC20,MUC20-OT1
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
 
 
 Maternal
 Multi-generational
 Unknown
 MIR570,SMBD1P,MUC20,MUC20-OT1
 
 pinto_10_ASD_discovery_cases-case1260_10
 Illumina550
 
 Unknown
 NA
 NA
 LMLN,IQCG,RPL35A,LOC348840,LRCH3
 
 pinto_10_ASD_discovery_cases-case5065_3
 Agilent1M
 
 maternal
 Multiplex
 Unknown
 PCYT1A,TCTEX1D2,TFRC,ZDHHC19,OSTalpha
 
 pinto_10_ASD_discovery_cases-case5542_3
 Agilent1M
 
 maternal
 NA
 NA
 APOD,ACAP2,PPP1R2
 
 pinto_14_ASD_discovery_cases2-case8588_201
 qPCR
 Possibly paternal
 De novo
 Unknown
 Unknown (no siblings)
 XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A
 
 poultney_13_ASD_discovery_cases-case04HI2755A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RNU6-621P,LMLN-AS1,LMLN
 
 poultney_13_ASD_discovery_cases-case04HI3164A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MUC20,MUC4,MUC20-OT1
 
 poultney_13_ASD_discovery_cases-case04HI3174A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MIR922,RUBCN,BDH1
 
 poultney_13_ASD_discovery_cases-case99HI0744A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RN7SL73P,PPP1R2,APOD
 
 prasad_12_ASD_discovery_cases-case122686L
 
 
 Unknown
 Unknown
 Unknown
 APOD,ACAP2,PPP1R2
 
 prasad_12_ASD_discovery_cases-case123422L
 
 
 Unknown
 Unknown
 Unknown
 PCYT1A,FBXO45,LRRC33,WDR53,CEP19,TM4SF19-TCTEX1D2,RNF168,ZDHHC19,OSTalpha,PIGX,TFRC,C3orf43,TM4SF19,LOC401109,TCTEX1D2,UBXN7,PAK2
 
 prasad_12_ASD_discovery_cases-case126047
 
 
 Unknown
 Unknown
 Unknown
 ATP13A3,FLJ34208
 
 prasad_12_ASD_discovery_cases-case138645L
 
 
 Unknown
 Unknown
 Unknown
 LSG1
 
 prasad_12_ASD_discovery_cases-case76066
 qPCR
 
 Unknown
 Unknown
 Unknown
 KIAA0226
 
 prasad_12_ASD_discovery_cases-case91085L
 
 
 Unknown
 Unknown
 Unknown
 TM4SF19,TM4SF19-TCTEX1D2
 
 prasad_12_ASD_discovery_cases-case99746
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case99746
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 quintela_17_DD/ID_discovery_cases-caseID_109
 
 
 Unknown (not maternal)
 
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 quintela_17_DD/ID_discovery_cases-caseID_245
 
 
 Unknown
 
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 quintela_17_DD/ID_discovery_cases-caseID_354
 
 
 Maternal
 
 Unknown
 NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,DLG1
 
 quintero-rivera_10_ASD_discovery_cases-patient1
 FISH
 Possible paternal inheritance of bipolar disorder
 De novo
 Simplex
 Segregated
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 quintero-rivera_10_ASD_discovery_cases-patient2
 FISH
 
 De novo
 Simplex
 Segregated
 KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 reinthaler_14_EP_discovery_cases-caseAVRE02
 
 
 Unknown
 Unknown
 Unknown
 KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,MUC20-OT1,SLC51A,PCYT1A
 
 roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase9
 BACs aCGH or FISH
 
 De novo
 Unknown
 Unknown
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 rosenfeld_10_ASD_discovery_cases-case15066
 FISH
 
 Unknown
 Unknown
 Unknown
 BDH1,KIAA0226,FYTTD1,LRCH3,IQCG,RPL35A,LMLN
 
 rosenfeld_10_ASD_discovery_cases-case17184
 FISH
 
 Paternal
 Unknown
 Unknown
 MB21D2,HRASLS,ATP13A5,ATP13A4,OPA1,HES1,CPN2,LRRC15,GP5,ATP13A3,TMEM44,LSG1,FAM43A,XXYLT1,ACAP2
 
 sagar_13_ASD/ID_discovery_cases-case1
 FISH, aCGH
 
 De novo
 Simplex
 Likely segregated
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132
 qPCR
 
 Unknown
 Unknown
 Unknown
 RNU6-858P,LRCH3,RPL35A,LMLN,IQCG
 
 sanders_11_ASD_discovery_cases-11039.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11079.p1
 qPCR
 
 De Novo
 Simplex (quad-proband matched)
 Segregated
 RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
 sanders_11_ASD_discovery_cases-11099.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11108.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 RNU6-858P,LRCH3,IQCG
 
 sanders_11_ASD_discovery_cases-11114.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11133.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,LMLN,ANKRD18DP
 
 sanders_11_ASD_discovery_cases-11135.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11158.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11167.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11202.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11270.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FRG2FP,TUBB8P8,ANKRD18DP
 
 sanders_11_ASD_discovery_cases-11277.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11289.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11304.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNF168
 
 sanders_11_ASD_discovery_cases-11336.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LRCH3
 
 sanders_11_ASD_discovery_cases-11375.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11376.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11412.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11447.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11453.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 FRG2FP,TUBB8P8,ANKRD18DP
 
 sanders_11_ASD_discovery_cases-11463.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11464.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11465.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11468.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11485.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11495.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11509.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OPA1-AS1,OPA1
 
 sanders_11_ASD_discovery_cases-11550.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11612.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11677.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Both parents
 Simplex (trio)
 NA
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11721.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11775.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-821P,FRG2FP,TUBB8P8,ANKRD18DP
 
 sanders_11_ASD_discovery_cases-11939.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-11981.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12006.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12014.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12033.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12052.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12060.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12117.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12330.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12330.p1
 
 
 Both parents
 Simplex (trio)
 NA
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12332.p1
 
 
 Both parents
 Simplex (trio)
 NA
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12343.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12359.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12460.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MELTF
 
 sanders_11_ASD_discovery_cases-12469.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12581.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12591.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12595.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12598.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12648.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12701.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12722.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-12787.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TUBB8P8,LMLN,ANKRD18DP
 
 sanders_11_ASD_discovery_cases-12944.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-13010.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-13041.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 XXYLT1-AS1,MIR3137,RN7SL36P,XXYLT1-AS2,XXYLT1
 
 sanders_11_ASD_discovery_cases-13083.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-13120.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-13175.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sanders_11_ASD_discovery_cases-13251.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FRG2FP
 
 sanders_11_ASD_discovery_cases-13322.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ATP13A4
 
 sato_12_ASD_discovery_cases_1-family1caseIII-5
 
 Possibly maternal
 Unknown
 Simplex for ASD; multiplex for anxiety disorder
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 sato_12_ASD_discovery_cases_1-family1caseIII-5
 
 Possibly maternal
 Unknown
 Simplex for ASD; multiplex for anxiety disorder
 Unknown
 VEZF1P1
 
 schaefer_10_ASD_discovery_cases-case2
 FISH
 
 Unknown
 Unknown
 Unknown
 NA
 
 shen_10_ASD_discovery_cases-ASD-09-037
 
 
 Unknown
 NA
 NA
 MIR4797,DLG1-AS1,LINC02012,BDH1,DLG1
 
 speevak_11_DD_discovery_cases-case1
 
 
 Unknown
 NA
 NA
 MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
 vaags_11_ASD_discovery_cases-probandF2-003
 
 
 Unknown
 Multiplex
 Unknown
 MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
 van_den_bossche_12_SCZ_discovery_cases-Zas8751
 
 
 Unknown
 Unknown
 Unknown
 LINC01063,RNU6-646P,RNU4-89P,FBXO45,NRROS,PIGX,CEP19,PAK2
 
 van_den_bossche_12_SCZ_discovery_cases-Zas8756
 
 
 Unknown
 Unknown
 Unknown
 LINC01063,RNU6-646P,RNU4-89P,FBXO45,NRROS,PIGX,CEP19,PAK2
 
 xu_16_ASD/DD/ID_discovery_cases-case4
 
 
 Maternal
 
 
 RNU1-20P,VEZF1P1,ATP13A5-AS1,ATP13A4-AS1,RN7SL447P,LINC02038,DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,LINC01972,XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TUBB8P8,RNU6-860P,CICP6,SEPT14P3,HRASLS,OPA1-AS1,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,FGF12,MB21D2,ATP13A5,ATP13A4,OPA1,LINC02036,LINC02037,LINC00884,LSG1,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,LINC02026,DLG1,FAM157A
 
 yin_16_ASD_discovery_cases-case159
 
 
 Unknown
 Unknown
 Unknown
 LINC00884
 
 yin_16_ASD_discovery_cases-case160
 
 
 Unknown
 Unknown
 Unknown
 KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,LINC01983,TNK2,SDHAP1
 
 yuen_17_ASD_discovery_cases-case2-1702-004
 Affymetrix CytoScan HD
 
 De novo
 Multiplex
 Not segregated
 KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0738-003
 RT-qPCR or WGS
 
 Unknown
 
 
 MIR4797,DLG1-AS1,LINC02012,BDH1,DLG1
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case11-0025-003
 RT-qPCR or WGS
 
 Unknown
 
 
 PAK2
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case11-0029-003
 RT-qPCR or WGS
 
 Unknown
 
 
 PAK2
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1702-004
 RT-qPCR or WGS
 
 Unknown
 
 
 XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2AS2,MIR4797,DLG1-AS1,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,DLG1
 null

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
coe_14_ASD/DD/ID_discovery_controls-control70
 
 
  Unknown
 
 
  RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
coe_14_ASD/DD/ID_discovery_controls-control71
 
 
  Unknown
 
 
  RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
girirajan_13b_ASD_discovery_controls-10208109404
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-11406105845
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-11510113081
 
 
  Unknown
 
 
  MIR570,SMBD1P,MUC20,MUC4,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-12508109518
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-14710112915
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-20308109922
 
 
  Unknown
 
 
  SMBD1P,MUC20,MUC4,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-23107108218
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-25204100801
 
 
  Unknown
 
 
  NCBP2-AS1,NCBP2-AS2,NCBP2,PIGZ,RPSAP69,SENP5,MELTF
 
girirajan_13b_ASD_discovery_controls-2608108900
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-26405103148
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-28706106413
 
 
  Unknown
 
 
  MUC20,MUC4,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-30109111610
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-31207108545
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-31407108557
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-33409111730
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-34306106585
 
 
  Unknown
 
 
  MIR570,SMBD1P,MUC20,MUC4,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-37209111863
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-38206106769
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-38308110558
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-38606106778
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-39306106798
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-40005104405
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-43206106894
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-45304101644
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-46006106980
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-48906107104
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-4906105609
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-54206107480
 
 
  Unknown
 
 
  SMBD1P,MUC20,MUC4,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-54305104360
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-54606107478
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-55105104410
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-6007107751
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-606105484
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-6106105636
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-6608109280
 
 
  Unknown
 
 
  MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TUBB8P8,RNU6-860P,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,IQCG,FAM157A
 
girirajan_13b_ASD_discovery_controls-66404102339
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-6808109293
 
 
  Unknown
 
 
  SMBD1P,MUC20,MUC4,MUC20-OT1
 
girirajan_13b_ASD_discovery_controls-9409110993
 
 
  Unknown
 
 
  MIR570,SDHAP2,SMBD1P,MUC20-OT1
 
kaminsky_11_DD/ID/ASD_discovery_controls-control0065
 
 
  Unknown
 
 
  RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,DLG1
 
kanduri_15_ASD_discovery_controls-control_split1158
 
 
  Unknown
 
 
  ANKRD18DP (non-coding RNA, exonic)
 
kanduri_15_ASD_discovery_controls-control_split1391
 
 
  Unknown
 
 
  LMLN
 
kanduri_15_ASD_discovery_controls-control_split1494
 
 
  Unknown
 
 
  ANKRD18DP (non-coding RNA, exonic)
 
kanduri_15_ASD_discovery_controls-control_split1525
 
 
  Unknown
 
 
  LMLN
 
kanduri_15_ASD_discovery_controls-control_split1689
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, UBXN7(dist=8585),RNF168(dist=25596)
 
kanduri_15_ASD_discovery_controls-control_split2081
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, ANKRD18DP(dist=4142),FAM157A(dist=40975)
 
krumm_13_ASD_discovery_controls-control11336.s1
 
 
  Maternal
  Simplex
 
  LRCH3
 
krumm_13_ASD_discovery_controls-control13169.s1
 
 
  Maternal
  Simplex
 
  BDH1
 
krumm_13_ASD_discovery_controls-control13169.s1
 
 
  Maternal
  Simplex
 
  RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,XXYLT1,ACAP2,MUC20-OT1
 
krumm_15_ASD_discovery_controls-control11158.s1
  Illumina 1MDuo
 
  De novo
 
 
  RNU4-89P,RNU6-42P,PIGX,PAK2
 
krumm_15_ASD_discovery_controls-control11208.s1
  Illumina 1M
 
  De novo
 
 
  MUC20P1,MIR570,APOD,SDHAP2,SMBD1P,MUC20,MUC4,MUC20-OT1
 
krumm_15_ASD_discovery_controls-control11365.s1
  Illumina 1M
 
  Maternal
 
 
  BDH1
 
krumm_15_ASD_discovery_controls-control11488.s1
  Illumina 1M
 
  Maternal
 
 
  XXYLT1-AS1,MIR3137,RN7SL36P,XXYLT1-AS2,XXYLT1
 
krumm_15_ASD_discovery_controls-control12274.s1
  Illumina 1MDuo
 
  Maternal
 
 
  TMEM44
 
krumm_15_ASD_discovery_controls-control13169.s1
  Illumina 1MDuo
 
  Maternal
 
 
  DLG1-AS1,LINC02012,BDH1,DLG1
 
krumm_15_ASD_discovery_controls-control13169.s1
  Illumina 1MDuo
 
  Maternal
 
 
  RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,XXYLT1,ACAP2,MUC20-OT1
 
krumm_15_ASD_discovery_controls-control13287.s1
  1M-Duov3
 
  Maternal
 
 
  RPL35A,LMLN,IQCG
 
krumm_15_ASD_discovery_controls-control13854.s1
  Omni2.5-4v1
 
  Paternal
 
 
  LMLN-AS1,RNU6-821P,LMLN,ANKRD18DP
 
krumm_15_ASD_discovery_controls-control13901.s1
  Omni2.5-4v1
 
  Paternal
 
 
  RNU6-858P,RNU6-621P,FYTTD1,LRCH3,RPL35A,LMLN,IQCG
 
krumm_15_ASD_discovery_controls-control14197.s1
  Omni2.5-4v1
 
  Maternal
 
 
  MUC20,MUC4,MUC20-OT1
 
levy_11_ASD_discovery_controls-11365.s1
 
 
  Maternal
  Simplex
  NA
  LINC02012,BDH1
 
levy_11_ASD_discovery_controls-11488.s1
 
 
  Maternal
  Simplex
  NA
  XXYLT1-AS1,MIR3137,RN7SL36P,XXYLT1-AS2,XXYLT1
 
poultney_13_ASD_discovery_controls-control04C27077A
 
 
  Unknown
 
 
  MIR4797,DLG1-AS1,LINC02012,BDH1,DLG1
 
poultney_13_ASD_discovery_controls-control04C27077A
 
 
  Unknown
 
 
  RNU6ATAC24P,RN7SL73P,PPP1R2,APOD
 
poultney_13_ASD_discovery_controls-control05C39645A
 
 
  Unknown
 
 
  MIR6829,TNK2
 
sanders_11_ASD_discovery_controls-11038.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11086.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11099.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11108.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11234.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LMLN
 
sanders_11_ASD_discovery_controls-11307.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11310.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11328.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11339.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11365.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02012,BDH1
 
sanders_11_ASD_discovery_controls-11375.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11376.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11412.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11447.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11488.s1
 
 
  Maternal
  Simplex (quad)
  NA
  XXYLT1-AS1,MIR3137,RN7SL36P,XXYLT1-AS2,XXYLT1
 
sanders_11_ASD_discovery_controls-11494.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11526.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11542.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11550.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11667.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11793.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11939.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Unknown
  Simplex (quad)
  NA
  XXYLT1
 
sanders_11_ASD_discovery_controls-11981.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-12014.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-12060.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-12359.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-12441.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-12494.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-12561.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-12581.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-12638.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MB21D2
 
sanders_11_ASD_discovery_controls-12648.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-12722.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-12788.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-13005.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-13010.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-13169.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02012,BDH1
 
sanders_11_ASD_discovery_controls-13175.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP13A4
 
sanders_11_ASD_discovery_controls-13251.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FRG2FP,TUBB8P8
 
sanders_11_ASD_discovery_controls-13296.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MB21D2
 
sanders_11_ASD_discovery_controls-13322.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ATP13A4
 
stamouli_18_ASD/NDD_discovery_controls-family42_Twin_2
 
 
  Unknown
  N/A (both twins typically developing)
 
  TNK2
 
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
 
 
  Unknown
  N/A (both twins typically developing)
 
  MIR6829,TNK2
 

# of Model: 1
# of References: 1

Mouse Chromosome Information

16

Model Summary

C57Bl/6 mice with a CRISPR/Cas9 mediated heterozygous deletion the human 3q29 CNV in the syntenic region on the mouse chromosome 16 show reduced body weight, impaired social interaction, cognitive function, acoustic startle, and amphetamine sensitivity, with some sexual dimorphism. Dlg1het mice did not exhibit the behavioral deficits seen in mice harboring the full 3q29 deletion.

External Links

UCSC Symbol         NCBI Symbol          NCBI Symbol

References

Report Type
Title
Author, Year
Primary
NA

M_DF(3)_1_HT

Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: C57Bl/6 mice with a CRISPR/Cas9 mediated heterozygous deletion of the human 3q29 CNV syntenic region on the mouse chromosome 16 between Chr.16:31,369,117 (GRCm38.p3) and Chr.16:32,634,414 (GRCm38.p3) [ genotype: B6.Del16^+/Bdh1-Tfrc].
Synteny: 1.6Mb on the human chr 3q29 between genes BDH1 and TFRC. The 1.2Mb mouse and 1.6Mb human regions are almost identical with all 21 genes present in the same sequential order in reverse.

M_DF(3)_1_HT

Category Entity Quantity Experimental Paradigm Age at Testing
Motor phenotype Swimming ability 1 Increased
Description:  Female mutants show an increase in swim speed on the 5th day of the Morris water maze trial compared with controls.
Morris water maze test 4 months
Motor phenotype Hyperactivity 1 Decreased
Description:  Female mutants show decrease in ambulation following amphetamine injections compared with controls. Male mutants show no change in ambulation following 2.5mg/kg amphetamine injection but show a decrease in ambulation following 7.5mg/kg amphetamine injection compared with controls.
Exp Paradigm:  Amphetamine was intraperitoneally injected at doses of 2.5 or 7.5 mg/kg and post-injection ambulation were measured for 2 h; Ambulation were recorded for 35-65 mins post-injection.
Novel cage test 4 months
Neuroanatomy / ultrastructure / cytoarchitecture Brain size 1 Decreased
Description:  Mutants show decrease in brain size compared with controls. Only females and not males show an increase in the ratio of brain weight by body weight compared with controls.
Measurement of tissue weight Adult
Sensory Startle response: acoustic stimulus 1 Increased
Description:  Female mutants show increase in startle response compared with controls. Reduced weight had no effect on startle response changes.
Acoustic startle reflex test 4 months
Social behavior Social approach 1 Decreased
Description:  Male mutants did not spend more time interacting with the unfamiliar mouse over the empty cup unlike controls.
Three-chamber social approach test 4 months
Developmental profile Size/growth 1 Decreased
Description:  Mutants show decrease in body weight compared with controls.
Body weight measurement 1 - 17 weeks
Emotion Fear response 1 Increased
Description:  Female mutants show increase in freezing in response to tone-shock pairings in the training phase of the fear conditioning test compared with controls.
Fear conditioning test 4 months
Learning & memory Spatial reference memory 1 Decreased
Description:  Male mutants spent less time in the quadrant that had held the hidden platform compared with controls.
Morris water maze test 4 months
Molecular profile Targeted expression 1 Decreased
Description:  Mutants show ~50% reduction in mRNA abundance for 20 of the 21 genes (except Tfrc was not reduced in female and 30% reduced in male) in the interval compared with controls.
Exp Paradigm:  forebrain
Quantitative pcr (qrt-pcr) Adult
Molecular profile Targeted expression 1 Decreased
Description:  Mutants show reduction in protein abundance of genes (DLG1, UBXN7, PAK2, PCYT1A, WDR53, and BDH1) in the interval compared with controls. Mutants show no change in the protein levels of TFRC, SENP5, RNF168, FBXO45, and NCBP2 compared with controls.
Exp Paradigm:  forebrain
Western blot Adult
Circadian sleep/wake cycle Locomotor activity in diurnal cycle 1 No change Novel cage test 4 months
Emotion Anxiety 1 No change Elevated plus maze test 4 months
Emotion Anxiety 1 No change Open field test 4 months
Emotion Fear response 1 No change Fear conditioning test 4 months
Learning & memory Cued or contextual fear conditioning: memory of context 1 No change Fear conditioning test 4 months
Learning & memory Cued or contextual fear conditioning: memory of cue 1 No change Fear conditioning test 4 months
Learning & memory Spatial learning 1 No change Morris water maze test 4 months
Learning & memory Spatial reference memory 1 No change Morris water maze test 4 months
Motor phenotype Swimming ability 1 No change Morris water maze test 4 months
Neuroanatomy / ultrastructure / cytoarchitecture Brain development 1 No change Immunofluorescence staining E15.5
Neuroanatomy / ultrastructure / cytoarchitecture Brain morphology 1 No change Histology Adult
Repetitive behavior Repetitive digging 1 No change Marble-burying test 4 months
Sensory Sensorimotor gating 1 No change Prepulse inhibition 4 months
Sensory Startle response: acoustic stimulus 1 No change Acoustic startle reflex test 4 months
Social behavior Social approach 1 No change Three-chamber social approach test 4 months
 
Not Reported: Communications,   Immune response,   Maternal behavior,   Neurophysiology,   Physiological parameters,   Seizure,  
References: 1:  NA NA

HELP
Copyright © 2017 MindSpec, Inc.