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22q13.33CNV Type: Deletion-Duplication


Largest CNV size: 2260000 bp

Statistics Box:
Number of Reports: 54



Summary Information

Microdeletions within the 22q13.3 locus can lead to 22q13.3 microdeletion syndrome; individuals with this syndrome frequently display global developmental delay and delayed speech. CNVs within this locus in autistic individuals may include or be adjacent to the SHANK3 gene.

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Contribution of SHANK3 mutations to autism spectrum disorder.
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Deletion
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
Duplication
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion.
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
Deletion
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum dis...
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Genome-wide characteristics of de novo mutations in autism.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Deletion-Duplication
NA
Deletion-Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
De novo 11q deletion including SHANK2 in a patient with global developmental delay.
Deletion
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
 Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
 584
 Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
 N/A
 N/A
 1201518
 1
 0
 1
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 615000
 1
 0
 1
 boccuto_12_ASD_discovery_cases
 133 ASD cases from South Carolina Autism Project (SCAP) and 88 ASD cases from Italy screened for variants in the SHANK3 gene
 221
 Diagnosis of ASD. Diagnosis of SCAP cohort established by ADI-R, ADOS, and/or CARS. Diagnosis of Italian cohirt based on meeting ADI-R and/or ADOS criteria. 203 isolated cases, 18 familial cases.
 NA
 76.02% Male
 106000
 1
 0
 1
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 428500
 2
 0
 2
 breckpot_16_ID/catatonia_discovery_cases
 Adult psychiatric patients with intellectual disability and catatonia recruited from an inpatient unit in the St-Camillus Psychiatric Hospital (Bierbeek, Belgium) from January 2005-January 2015
 15
 Cases diagnosed with intellectual disability (ID) and catatonia (DSM-5 criteria)
 Adult
 N/A
 97000
 2
 0
 2
 bremer_11_ASD_discovery_cases
 223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
 223
 25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
 
 71.3% Male
 25000
 1
 0
 1
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 147000
 2
 0
 2
 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
 13000
 1
 0
 1
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 570000
 0
 1
 1
 coe_14_ASD/DD/ID_discovery_cases
 Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
 29085
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 60000
 43
 11
 54
 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
 864461
 1
 1
 2
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 115268
 6
 1
 7
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 41658
 1
 0
 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
 
 
 39043
 2
 0
 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
 
 
 59180
 3
 0
 3
 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
 49423
 0
 1
 1
 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
 
 
 55807
 1
 0
 1
 glessner_09_ASD_discovery_cases
 Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
 859
 859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
 Range, 2-21
 81.8% Male
 68098
 2
 0
 2
 glessner_09_ASD_replication_cases
 Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
 1336
 1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
 Mean, 9.2 5.3
 78.7% Male
 68098
 0
 0
 0
 gorker_18_ASD_discovery_cases
  NA NA
 Individuals living in the Trakya region of Turkey with a pre-diagnosis of ASD who were referred to the Trakya University Child and Adolescent Psychiatry Department between January 2015-December 2015
 53
 All cases were diagnosed with ASD according to DSM-V and were further assessed using the Childhood Autism Rating Scales (CARS); 14 cases were comorbid with intellectual disability, 16 cases were comorbid with ADHD (assessed by the Conners Parent Rating Scale-Revised Short/CPRS-RS)
 Mean age, 9.2 years
 74.0% Male
 N/A
 1
 0
 1
 guilherme_14_DD/EP/ASD_discovery_cases
 Patients with deletions in ring chromosome 22
 5
 Four cases with developmental delay (with or without epilepsy/seizures); one case with autism (DSM-IV criteria) and epilepsy
 Range, 1-24 yrs.
 40% Male
 154000
 1
 0
 1
 guilmatre_09_ASD_discovery_cases
 ASD cases from 4 units in Rouen, Tours, and Dijon (France) and in Messina (Italy). 9.6% of cases were familial (multiplex families), 8.5% of cases were syndromic.
 260
 257 cases with autism, 3 cases with Aspberger syndrome
 11.8
 80.5% Male
 2260000
 2
 0
 2
 hnoonual_17_ASD_discovery_cases
 Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
 114
 68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
 Range, 1-18 years (at time of recruitment)
 79.82% Male
 673000
 1
 0
 1
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 594869
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 230485
 6
 1
 7
 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
 2497
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 116370
 1
 1
 2
 leblond_14_ASD_replication_cases
 Additional ASD cases screened for SHANK3 deletions by MLPA
 160
 ASD and intellectual disability (ID)
 N/A
 N/A
 N/A
 2
 0
 2
 marcou_17_DD/ID_discovery_cases
 Third child born to parents with unremarkable family history presenting with a de novo 11q13.2-q13.4 deletion that included the SHANK2 gene
 1
 Case presented with global developmental delay, intellectual disability, microcephaly, and dysmorphic features
 12 yrs.
 Female
 7172
 1
 0
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 276702
 2
 0
 2
 moessner_07_ASD_discovery_cases
 Unrelated subjects recruited from Hospital for Sick Children, Toronto (225), and child diagnostic centers in Hamilton (100) and Newfoundland (75). 62% multiplex, 38% simplex. Possible sample overlap with Marshall et al., 2008 CNV report.
 400
 ASD
 
 
 277000
 1
 0
 1
 moreira_14_ASD/EP_discovery_cases
 ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
 531
 ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
 N/A
 N/A
 1020000
 2
 0
 2
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 19789
 0
 1
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 1258139
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 169750
 0
 1
 1
 pfundt_16_nonNDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1430
 Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
 N/A
 N/A
 124426
 1
 0
 1
 philippe_15_ASD/CDD_discovery_cases
 Second child of first-degree-related healthy parents born in Algeria
 1
 Suspected diagnosis of childhood disintegrative disorder (Heller's dementia infanitilis) based on severe developmental regression following initial normal development. ADI-R scores: score of 20 in domain of reciprocal social interaction (cutoff of 10), score of 13 in communication domain (cutoff of 7), score of 2 in area of repetitive behaviors and stereotyped patterns (cutoff of 3). CARS score of 44.5 (severely autistic)
 10 yrs.
 Female
 40800
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 114886
 2
 1
 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
 97013
 2
 0
 2
 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)
 3277
 1
 0
 1
 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
 300599
 2
 0
 2
 roberts_13_ASD/DD/ID_discovery_cases
 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
 215
 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
 Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
 65.12% Male
 312000
 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
 
 
 184008
 2
 0
 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)
 
 
 
 9
 0
 9
 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
 67748
 20
 3
 23
 shin_15_ASD/DD/ID_discovery_cases
 Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
 96
 34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
 N/A
 69.8% Male
 2756000
 1
 0
 1
 soorya_13_ASD/ID_discovery_cases
 Serially ascertained sample of patients with SHANK3 deficiency evaluated over an 18-month period.
 32
 27/32 (84%) of cases met criteria for ASD; evaluation for ASD made using ADI-R and ADOS-G. 29/30 cases with some degree of intellectual disability (77% with severe-to-profound ID); evaluation for ID made using Mullen Scales of Early Learning (27 cases), Stanford-Binet Intelligence Scales, 5th ed. (1 case), and Leiter-R (2 cases).
 Range, 1.6-45.4 yrs. (mean 8.8, SD 9.2)
 56.25% Male
 1763369
 7
 0
 7
 szatmari_07_ASD_discovery_cases
 ASD patients from 173 families with at least two affected individuals from AGP
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 876700
 2
 0
 2
 tammimies_15_ASD_discovery_cases
 Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
 258
 Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
 4.5 2.8 yrs.
 83.72% Male
 1194074
 2
 0
 2
 van_der_zwaag_09_ASD_discovery_cases
 Samples and phenotypic data from ASD patients, Dept. of Child & Adolescent Psychiatry, UMC Utrcht
 105
 53 cases diagnosed with non-complex autism, 52 diagnosed with complex autism
 
 
 15310
 0
 1
 1
 vucurovic_12_BPD_discovery_cases
 Male patient with late-onset psychiatric features not previously reported in 22q13 deletion/Phelan-McDermid syndrome
 1
 DSM-IV-TR diagnosis of affective bipolar disorder not otherwise specified. Additional phenotypes: onset of early dementia.
 18 yrs.
 Male
 48845
 3
 0
 3
 wang_10_ASD_discovery_cases
 ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
 103
 ASD (according to DSM-IV criteria)
 Mean, 21.5 10.3
 78.6% Male
 691000
 1
 0
 1
 xu_16_ASD/DD/ID_discovery_cases
 Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
 115
 66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
 Range, 18 months-15.1 years (mean age, 5.7 years)
 72.17% Male
 260000
 1
 0
 1
 yingjun_17_ASD_discovery_cases
 ASD probands referred to the Clinical Genetics Service for genetic testing
 64
 Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 N/A
 N/A
 903193
 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
 147180
 2
 0
 2
 yuen_16_ASD_discovery_cases
 Cases from unrelated trio families from a cohort of Canadian ASD families
 200
 Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation
 N/A
 N/A
 256029
 1
 0
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 851669
 4
 2
 6

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chen_17_ASD_discovery_controls1
 Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 Mean age, 68.1 10.1 years
 48.03% Male
 0
 0
 0
 0
 christian_08_ASD_discovery_controls
 Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
 372
 Controls
 
 
 570000
 0
 0
 0
 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
 60000
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 67556
 11
 1
 12
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 55807
 NA
 NA
 NA
 glessner_09_ASD_discovery_controls
 Controls
 1409
 Controls
 
 
 68098
 1
 0
 1
 glessner_09_ASD_replication_controls
 Controls
 1110
 Controls
 
 
 68098
 1
 0
 1
 guilmatre_09_ASD_discovery_controls
 Controls
 236
 Controls
 39.5
 43.8% Male
 0
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 krumm_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
 2497
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 220322
 1
 2
 3
 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
 62432
 1
 0
 1
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 moessner_07_ASD_discovery_controls
 European controls and HapMap sample controls
 500
 controls
 
 
 0
 0
 0
 0
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 0
 0
 0
 0
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 0
 0
 0
 0
 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)
 300599
 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.
 
 61585
 19
 1
 20
 van_der_zwaag_09_ASD_discovery_controls
 Ethnically matched, unrelated, healthy volunteers recruited by Dept. of Neurology, UMC Utrecht
 267
 Controls
 
 
 0
 0
 0
 0
 wang_10_ASD_discovery_controls
 Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
 203
 Controls
 Mean, 32.5 8.06
 71.9% Male
 691000
 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
 147180
 0
 0
 0
 yuen_16_ASD_discovery_controls
 CNVs from Database of Genomic Variants (DGV); used to reduce the false detection of de novo CNVs
 N/A
 Control
 N/A
 N/A
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
  Saudi Arabia
 Array SNP
  Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
 HMM
 Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
 None
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 boccuto_12_ASD_discovery_cases
  164 Caucasian, 53 African-American, 4 from other racial/ethnic backgrounds
 Array SNP
  Affymetrix 6.0
 
 Genotyping Console 4.0 (Affymetrix)
 None
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 breckpot_16_ID/catatonia_discovery_cases
  Belgium
 aCGH
  OGT CytoSure ISCA
 
 
 None
 bremer_11_ASD_discovery_cases
  Swedish
 aCGH
  BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
 
 
 MLPA, FISH
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 chong_14_DD/ID/ASD/MCA_discovery_cases
  Chinese
 aCGH
  High-resolution 180K oligoarray
 
 
 aCGH (NimbleGen)
 christian_08_ASD_discovery_cases
  235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
 aCGH
  RPCI 19K BAC microarray
 
 
 FISH, microsatellite, qPCR
 coe_14_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  N/A
 
 
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 Yes
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 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
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 glessner_09_ASD_discovery_cases
  European
 Solid phase hybridization
  HumanHap550 BeadChip
 PennCNV
 
 qPCR, MLPA, array SNP
 glessner_09_ASD_replication_cases
  European
 Solid phase hybridization
  HumanHap550 BeadChip
 PennCNV
 
 qPCR, MLPA, array SNP
 gorker_18_ASD_discovery_cases
  Turkish
 MLPA
  MRC-Holland P064.C1 and P096.A2 MLPA probe kits
 
 
 None
 guilherme_14_DD/EP/ASD_discovery_cases
  Brazil
 Karyotyping, solid phase hybridization, array SNP
  Illumina Quad610, Affymetrix Genome-Wide Nsp/Sty 6.4
 
 
 FISH
 guilmatre_09_ASD_discovery_cases
  France (231), Italy (29)
 QMPSF
  ABI Prism 3100 sequencer (Applied Biosystems)
 
 GeneScan 3.7
 QMPSF, aCGH, FISH
 hnoonual_17_ASD_discovery_cases
  Thai
 Solid phase hybridization
  Illumina Infinium CytoSNP-850K v1.1 BeadChip
 
 BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
 None
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 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
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leblond_14_ASD_replication_cases
  N/A
 MLPA
  3130xl Genetic Analyser (Applied Biosystems)
 
 GeneMapper v4.0, Coffalyzer v7
 None
 marcou_17_DD/ID_discovery_cases
  N/A
 Array SNP
  Affymetrix Cytoscan HD
 
 
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 moessner_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 500K
 
 
 qPCR, FISH
 moreira_14_ASD/EP_discovery_cases
  Ethnically-mixed Brazilian
 MLPA
 
 
 
 Array SNP
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 N/A
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 pfundt_16_nonNDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 None
 philippe_15_ASD/CDD_discovery_cases
  Algerian
 aCGH
  N/A
 
 
 qPCR, MLPA
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 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
 
 
 shin_15_ASD/DD/ID_discovery_cases
  Korean
 MLPA
  SALSA MLPA P245 Microdeletion Syndromes probemix
 
 GeneMarker (SoftGenetics); Affymetrix ChAS v2.1, Nexus Copy Number v.7.5 (BioDiscovery)
 Array SNP (Affymetrix CytoScan 750K)
 soorya_13_ASD/ID_discovery_cases
  Caucasian
 Karyotyping, FISH, aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0
 
 
 MLPA, solid phase hybridization (Illumina Omni 2.5-8 v1)
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 tammimies_15_ASD_discovery_cases
  Canada
 aCGH, array SNP, solid phase hybridization
  One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
 QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
 Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
 None
 van_der_zwaag_09_ASD_discovery_cases
  Dutch
 Solid phase hybridization
  HumanHap300 Beadchip
 
 BeadStudio genotyping V2.3.41
 qPCR
 vucurovic_12_BPD_discovery_cases
  France
 aCGH
  BlueGnome Array-CGH ISCA
 
 Genepix 6.0, BlueFuse
 qPCR, FISH
 wang_10_ASD_discovery_cases
  Croatian
 Solid phase hybridization
  Illumina HumanHap550 BeadChip
 PennCNV
 BeadStudio
 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
 yingjun_17_ASD_discovery_cases
  Chinese
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS
 N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 yuen_16_ASD_discovery_cases
  Canada
 N/A
  High-resolution microarray platform
 
 Segseq, ERDS
 qPCR, Sanger sequencing
 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)

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  christian_08_ASD_discovery_controls
  262 Caucasians, 100 African-Americans
  aCGH
  RPCI 19K BAC microarray
 
 
 
  coe_14_ASD/DD/ID_discovery_controls
  N/A
  aCGH, solid phase hybridization
  Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
 
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  glessner_09_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  HumanHap550 BeadChip
  PennCNV
 
 
  glessner_09_ASD_replication_controls
  Caucasian
  Solid phase hybridization
  HumanHap550 BeadChip
  PennCNV
 
 
  guilmatre_09_ASD_discovery_controls
  Northwestern France
  QMPSF
  ABI Prism 3100 sequencer (Applied Biosystems)
 
  GeneScan 3.7
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  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
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  moessner_07_ASD_discovery_controls
 
  Array SNP
  Affymetrix 500K
 
 
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  van_der_zwaag_09_ASD_discovery_controls
  Dutch
  Solid phase hybridization
  HumanHap300 Beadchip
 
  BeadStudio genotyping V2.3.41
 
  wang_10_ASD_discovery_controls
  Croatian
  Solid phase hybridization
  Illumina HumanHap550 BeadChip
  PennCNV
  BeadStudio
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None
  yuen_16_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG2451
 N/A
 N/A
 Developmental delay
 Global developmental delay with subtle dysmorphic features, cleft palate, failure to thrive, epilepsy, mosaic hypopigmentation, cardiac abnormalities, and bilateral 2-3 toe syndactyly (Phelan-McDermid Syndrome). Non-consanguineous parents.
 Global developmental delay
 49581118
 50737855
  1156738
 GRCh38
 Deletion
 No
  battaglia_13_DD/ID/ASD_discovery_cases-case67
 4 yrs.
 M
 PDD-NOS and developmental delay/intellectual disability
 Autism: yes (PDD-NOS). Epilepsy: no. Dysmorphic features: yes.
 Moderate DD/ID
 50180248
 50796016
  615769
 GRCh38
 Deletion
 Yes
  boccuto_12_ASD_discovery_cases-case14878
 22 yrs.
 M
 Autistic disorder
 Delayed speech. He was born at the 40th week of an uneventful pregnancy, his birth weight was 3770 g. As newborn, he suffered of frequent colds and ear infection and received three corrective surgeries for hypospadias. At the age of 8, he developed recurrent urinary tract infections and later he had a partial obstruction of his colon. He was saying three words at 1 year of age, but then he stopped using them and became verbal at about 8 years of age. He has never had seizure activity, but several problems have been reported about hyperactivity and behavioral issues, which required a trial of medication. Patient from South Carolina Autism Project (SCAP).
 
 249475238
 249581309
  160000
 NCBI36
 Deletion
 No
  brandler_18_ASD_discovery_cases-caseMT_47.3
 N/A
 M
 ASD
 Case from REACH cohort
 
 49026387
 49028280
  1894
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_discovery_cases-caseSJD_65.3
 N/A
 M
 ASD
 Case from REACH cohort
 
 50292072
 50720572
  428501
 GRCh38
 Deletion
 Yes
  breckpot_16_ID/catatonia_discovery_cases-case1
 N/A (adult)
 F
 Intellectual disability and catatonia
 Case met DSM-5 criteria for catatonia (symptoms included waxy flexibility, stupor, agitation, posturing, mannerisms, echopraxia, and staring rigidity). Behavioral/psychiatric evaluation: unspecified nonorganic psychosis, autistic behavior. Epilepsy/seizures: post-operative seizure. Dysmorphic features: low anterior hairline, long fingers. Additional medical history: cerebral and cerebellar atrophy.
 Profound intellectual disability (FSIQ 19, performance IQ 15, verbal IQ 23)
 50685069
 50782495
  97427
 GRCh38
 Deletion
 No
  breckpot_16_ID/catatonia_discovery_cases-case2
 N/A (adult)
 F
 Intellectual disability and catatonia
 Case met DSM-5 criteria for catatonia (symptoms included catalepsy, stupor, and agitation). Behavioral/psychiatric evaluation: unspecified nonorganic psychosis, pervasive developmental disorder. Epilepsy/seizures: post-electroconvulsive therpay seizures. Dysmorphic features: micrognathia, mild facial asymmetry. Additional medical history:.
 Severe intellectual disability (FSIQ 39)
 50685069
 50782495
  97427
 GRCh38
 Deletion
 No
  bremer_11_ASD_discovery_cases-case11
 7
 F
 ASD
 Non-syndromic ASD, familial case
 MR (IQ<70)
 50714417
 50739836
  25420
 GRCh38
 Deletion
 Yes
  chen_17_ASD_discovery_cases-caseU-1459
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 24 (past score 27); Qualitative abnormalities in verbal and nonverbal communication, current score n/a (past score n/a); Qualitative abnormalities in nonverbal communication, current score 12 (past score 14); Restricted, repetitive, and stereotyped patterns of behaviour, current score 5 (past score 7); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 119; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 35. Epilepsy: no history of epilepsy.
 Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
 50689477
 50796015
  106539
 GRCh38
 Deletion
 Yes
  chen_17_ASD_discovery_cases-caseU-1957
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 27 (past score 29); Qualitative abnormalities in verbal and nonverbal communication, current score n/a (past score n/a); Qualitative abnormalities in nonverbal communication, current score 11 (past score 12); Restricted, repetitive, and stereotyped patterns of behaviour, current score 8 (past score 8); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 129; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 41. Epilepsy: no history of epilepsy.
 Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
 50648836
 50796015
  147180
 GRCh38
 Deletion
 Yes
  chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH2159
 N/A
 F
 Developmental delay
 Severe developmental delay, hypotonia, tuneal ataxia & dymentia, retractory seisure
 Severe developmental delay
 50694375
 50706904
  12530
 GRCh38
 Deletion
 Yes
  christian_08_ASD_discovery_cases-AU003404
 NA
 F
 ASD
 NA
 NA
 49009664
 49578110
  568447
 GRCh38
 Duplication
 Yes
  coe_14_ASD/DD/ID_discovery_cases-case448
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case449
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case450
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case451
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case452
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case453
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case454
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case455
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case456
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case457
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case458
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case459
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case460
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case461
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case462
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case463
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case464
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case465
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case466
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case467
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case468
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case469
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case470
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case471
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case472
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case473
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case474
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case475
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case476
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case477
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case478
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case479
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case480
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case481
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case482
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case483
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case484
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case485
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case486
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case487
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case488
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case489
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case490
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case491
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case492
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case493
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case494
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case495
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case496
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case497
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case498
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case499
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case500
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case501
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 50674706
 50734706
  60001
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_296424
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 50268422
 50739836
  471415
 GRCh38
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300608
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 49920156
 50739836
  819681
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case13162_1793
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49447421
 49506600
  59180
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16079_1571066001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 50685077
 50782089
  97013
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case3394_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49447421
 49506600
  59180
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3505_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 50508269
 50572812
  64544
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5125_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49447421
 49506600
  59180
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5519_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49447421
 49506600
  59180
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6125_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 50030504
 50145772
  115269
 GRCh38
 Deletion
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER264167
 N/A
 M
 Developmental delay
 Global developmental delay; Delayed speech and language development
 
 50703654
 50745312
  41659
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1289301
 
 
 Autism
 
 
 48202636
 48241678
  39043
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1289302
 
 
 Autism
 
 
 48202636
 48241678
  39043
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU024003
 
 
 Autism
 
 
 49447421
 49506600
  59180
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU069404
 
 
 Autism
 
 
 49447421
 49506600
  59180
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU069405
 
 
 Autism
 
 
 49447421
 49506600
  59180
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case533-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 49606572
 49655995
  49424
 GRCh38
 Duplication
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case32825
 18 yrs.
 M
 ASD
 Severely limited expressive language. Behavioral problems: autism, ADHD, anxiety. Mild hypotonia. Focal epilepsy. Mild asymmetry of hippocampi, small gliosis in frontal lobe, absence of neural hypophysis. Nondysmorphic. Other features: delayed puberty. Growth parameters: short stature. Noncontributory family history.
 Developmental delay
 50684023
 50739830
  55808
 GRCh38
 Deletion
 Yes
  glessner_09_ASD_discovery_cases-9742760001
 NA
 
 ASD
 NA
 NA
 50671564
 50739662
  68099
 GRCh38
 Deletion
 Yes
  glessner_09_ASD_discovery_cases-AU02603
 NA
 
 ASD
 NA
 NA
 50671564
 50739662
  68099
 GRCh38
 Deletion
 Yes
  gorker_18_ASD_discovery_cases-case1
  NA NA
 N/A
 N/A
 ASD
 ASD; clinical and physical manifestations matched those of Phelan-McDermid syndrome (no further information provided)
 
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 No
  guilherme_14_DD/EP/ASD_discovery_cases-case5
 15 yrs.
 M
 ASD and epilepsy
 Case met DSM-IV criteria for typical autism. Birth/neonatal history: uneventful pregnancy, delivery at term by C-section; birth weight of 2450 g (<3rd %ile), birth length of 44 cm (<3rd %ile), and head circumference of 33 cm (3rd %ile). Developmental milestones: normal motor milestones; diminished speech and social interaction at age of 2 years. Language and communication evaluation: delay/absence of expressive speech. Motor and musculoskeletal evaluation: long and thin fingers, bilateral postaxial poldactyly of hands, flat feet. Behavioral/psychiatric evaluation: aggressive behavior beginning at 15 years of age (treated with haloperodil and risperidone). Epilepsy/seizures: seizures beginning at 15 years of age (controlled by carbamazepine). Dysmorphic features: thin habitus, long face, low frontal hairline, thick eyebrows (similar to father), bulbous nose, upper central incisors diastema. Growth parameters: weight of 47 kg (50th-75th %ile), height of 160 cm (75th %ile), and head circumference of 54 cm (50th %ile) at age of 13 years. Family history: first child of healthy non-consanguineous parents; two healthy paternal half-brothers; mother and several other relatives presented post-axial polydactyly of the hands, following autosomal dominant pattern.
 
 51061393
 51215613
  154000
 Unknown
 Deletion
 Yes
  guilmatre_09_ASD_discovery_cases-case47604
 8
 M
 ASD
 NA
 IQ<40
 47265476
 49525070
  2260000
 Unknown
 Deletion
 Yes
  guilmatre_09_ASD_discovery_cases-caseSi22
 9
 M
 ASD
 Dysmorphism, epilepsy
 IQ<40
 
 
  NA
 Unknown
 Deletion
 Yes
  hnoonual_17_ASD_discovery_cases-case2950
 N/A
 F
 ASD
 Familial history of lissencephaly
 
 50099472
 50772964
  673493
 GRCh38
 Deletion
 No
  iourov_12_ASD/ID/EP_discovery_cases-case22
 1 yr 11 mos.
 M
 Developmental delay
 Congenital heart disease (long QT syndrome). Karyotype: 9phqh, 22ps.
 Severe developmental delay
 49538472
 50088561
  550090
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000790
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 50685063
 50739836
  54774
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000944
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 50658268
 50739836
  81569
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001206
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 50368887
 50599372
  230486
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001887
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 50620720
 50745568
  124849
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004051
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 50685063
 50739836
  54774
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004935
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 50677679
 50739836
  62158
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005376
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 50684863
 50739977
  55115
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11716.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11716. SRS score of 90.
 Full-scale IQ (FSIQ) score of 49.
 50577774
 50580271
  2498
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11716.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 50576856
 50580271
  3416
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13647.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 50117156
 50233526
  116371
 GRCh38
 Duplication
 Yes
  leblond_14_ASD_replication_cases-caseAUN_006
 N/A
 M
 ASD and ID
 Autism
 Severe intellectual disability
 N/A
 N/A
  N/A
 NCBI36
 Deletion
 No
  leblond_14_ASD_replication_cases-caseAUN_007
 N/A
 M
 ASD and ID
 Autism
 Severe intellectual disability
 N/A
 N/A
  N/A
 NCBI36
 Deletion
 No
  marcou_17_DD/ID_discovery_cases-case1
 12 yrs.
 F
 Global developmental delay/intellectual disability
 Birth/neonatal history: born to a 36-year-old, gravida three, para three mother via natural conception; pregnancy not complicated by maternal illness or exposure to known teratogens, although the mother did take birth control pills during the first trimester and an antidepressant medication throughout gestation; birth at 36-1/2 weeks gestation via spontaneous vaginal delivery; birth weight of 2814 g (5th %ile), length of 45.08 cm (5th %ile), and head circumference of 32 cm (25th %ile); postnatal complications included need for oxygen and resuscitation for first 5 minutes of life; no additional postnatal complications observed prior to release from hospital; normal newborn screening; weak cry and weak suck as an infant, resulting in feeding difficulties and failure to thrive (weight <5th %ile); microcephaly (head circumference fell from 25th %ile to <5th %ile), hypotonia, and global developmental delay noted at this time. Developmental milestones: global developmental delay; rolling from front to back at 7 months, unassisted sitting between 9-11 months, crawling at 1 year, began pulling to stand at 14 months, independent walking at 22 months, climbing stairs between 4-5 years; did not use words until 3-4 years, did not speak in complete sentences until 8 years; no developmental regression. Lanaguge and communication evaluation: severe language delay, receives speech therapy twice a week. Motor and musculoskeletal evaluation: hypotonia; hypermobility in the small joints of the hand, mild pectus excavatum, evidence of scoliosis, arachnodactyly, long and thin feet, long and slender figners, clinodactyly of both fifth fingers, mild pes planus, piezogenic apules. EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: microcephaly, mild dolichocephaly, mild malar hypoplasia, mild retrognathia, fine hair, posterior hair whorl, prominent forehead, bilateral epicanthal folds, long palpebral fissures, deep-set eyes, low-set ears, petite ears, long ears with over-folding of the superior helix and with no tags or pits, broad nasal tip, depressed nasal bridge, small mouth, slight downturned corners of the mouth, widely spaced teeth. Growth parameters: height of 148.3 cm (19th %ile), weight of 36.1 kg (15th %ile), and head circumference of 50 cm (<3rd %ile) at 12 years. Family history: third child of parents; family history on both the maternal and paternal side is unremarkable with no documentation of any congenital anomalies or developmental delay; 48-year-old mother, 51-year-old father, and 23-year-old sister are healthy, 28-year-old brother was treated for testicular cancer at 21 years of age and a recurrence at 26 years of age.
 Moderate-severe intellectual disability; case currently in 6th grade but performs work at 1st grade level.
 49900884
 49908055
  7172
 GRCh38
 Deletion
 No
  marshall_08_ASD_discovery_cases-MM0102-003
 NA
 M
 ASD
 Mild language delay, weakness & hypotonia of arms
 IQ/LOF 60
 49437779
 49518159
  80381
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-MM0109-003
 NA
 F
 ASD
 nonverbal, severe repetitive behavior, mild dysmorphism
 IQ/LOF 27
 50514674
 50791377
  276704
 GRCh38
 Deletion
 Yes
  moessner_07_ASD_discovery_cases-case1
 NA
 F
 ASD
 Nonverbal speech, poor social interaction, repetitive behaviors
 Global developmental delay
 50514674
 50791377
  276704
 GRCh38
 Deletion
 Yes
  moreira_14_ASD/EP_discovery_cases-case10
 6 yrs.
 F
 ASD
 Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hypotonia. Epilepsy/seizures: none. Dysmorphic features: none reported. Growth parameters: height of 110 cm (10th-25th %ile), weight of 15.3 kg (<3rd %ile), and head circumference of 51 cm (50th-75th %ile).
 
 49889338
 50806138
  916801
 GRCh38
 Deletion
 Yes
  moreira_14_ASD/EP_discovery_cases-case9
 11 yrs.
 M
 ASD and epilepsy
 Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: muscular atrophy of the legs. Epilepsy/seizures: yes. Dysmorphic features: none reported. Growth parameters: height of 160 cm (>97th %ile), weight of 50.5 kg (90th-95th %ile), and head circumference of 54.5 cm (75th-98th %ile).
 
 50589152
 50796015
  206864
 GRCh38
 Deletion
 Yes
  mosca_16_DCD_discovery_cases-case121503
 N/A
 M
 DCD
 Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected; sibling diagnosis unaffected (positive for CNV).
 
 50716723
 50736511
  19789
 GRCh38
 Duplication
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-258891
 N/A
 F
 DD/ID/MCA
 Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
 
 49526476
 50739836
  1213361
 GRCh38
 Deletion
 N/A
  nord_11_ASD_discovery_cases-255-1
 
 
 ASD
 
 
 48313972
 48483721
  169750
 Unknown
 Duplication
 No
  pfundt_16_nonNDD_discovery_cases-case132
 N/A
 N/A
 Non-NDD
 Disease cohort: renal disoder. Description: ALG12 deletion
 
 49794033
 49918459
  124427
 GRCh38
 Deletion
 No
  philippe_15_ASD/CDD_discovery_cases-case1
 10 yrs.
 F
 Childhood disintegrative disorder
 Suspected diagnosis of childhood disintegrative disorder (Heller's dementia infanitilis) based on severe developmental regression following initial normal development.. ADI-R scores: score of 20 in domain of reciprocal social interaction (cutoff of 10), score of 13 in communication domain (cutoff of 7), score of 2 in area of repetitive behaviors and stereotyped patterns (cutoff of 3). CARS score of 44.5 (severely autistic). Birth/neonatal history: born by vaginal delivery at full terms (birth weight of 3570 g, length of 51.5 cm, head circumference of 35 cm, Apgar scores 10/10), experienced slowing of embryonic cardiac rhythm during delivery but recovered quickly. Developmental milestones: reportedly normal psychomotor and social development until 2 years of age (sitting on 6 months, starting to walk at 12 months, babbling present before 12 months, able to duplicate syllables at 9 months, pronounced first words at 10 months, first association of words around 18 months, able to use a few words at 2 years, toilet training acquired around 2 years); lack of progression, very poor language, and difficulty focusing attention noted at age of 4 years; increasing agitation and social withdrawal; loss of language skills, toilet-training, and aggravation of agitated behavior following febrile seizure episodes between 5-6 years of age. Language and communication evaluation: language limited to a few words at 7 years, unable to compensate by alternative modes of communication (gesture or mime); complete loss of language abilities by age of 10 years. Behavioral/psychiatric evaluation: very limited imitation and shared attention skills, lack of interest in developing peer relationships, low-grade repetitive activities, extreme agitation, sleep disorders (difficulty falling asleep, frequent night-awakenings), eating disorders (induced vomiting, merycism, pica). Epilepsy/seizures: three episodes of febrile seizures between 5-6 years of age; no overt clincial seizures episode afterwards. EEG: no seizure activity detected after age of 5 years. Brain imaging: cerebral MRI at age of 8 years showed thin corpus callosum in posterior part, hyperintensity on T2-weighted images localized in the hippocampus, and sub-cortical hyperintensity on T2-weighted images localized in the temporal lobes (bilateral temporal gliosis). Auditory and visual evaluation: no auditory or visual impairment. Additional medical history: gastroesophageal reflux. Dysmorphic features: none. Growth parameters: within normal range. Family history: second child of first-degree-related healthy parents born in Algeria; father not available for testing.
 Neuropsychomotor asssessment at age of 7 years: unable to obtain developmental profile with Psycho-Educative Profile (PEP-R) due to agitation and lack of participation; heterozygous developmental profile on Brunet-Lezine Scale (development ages of 14 months on language and socialization items, 18 months on visuo-manual prehension coordination, and 42 months for global motor development).
 50666057
 50706931
  40875
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5125_3
 NA
 M
 ASD
 NA
 NA
 49447421
 49506600
  59180
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5519_3
 NA
 F
 ASD
 NA
 NA
 49447421
 49506600
  59180
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case6046_4
 NA
 M
 Autism
 No language, normal physical exam, no epilepsy, normal brain MRI. Younger brother: autism, severe MR, no language, normal physical exam
 Severe MR
 49452422
 49567307
  114886
 Unknown
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case14291_4120
 N/A
 F
 ASD
 Autism on ADI-R, ASD on ADOS, language delay (first words 9 mo, first phrases 40 mo), walked at 10 mo, verbal (speaks fluently, spontaneously, with clear pronunciation, but with limited language and without complex sentences), no dysmorphic features or other anomalies, normal neurological exam, normal growth, no epilepsy. Negative family history.
 No ID (Griffiths at 5 y: language DQ 69, performance DQ 109, global DQ 93)
 50685077
 50695152
  10076
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case16079_1571066001
 N/A
 M
 ASD
 Autism (ADI-R and ADOS positive), language delay (first words 15 mo, first phrases 60 mo), very limited language, lost it at age 12 y, spontaneously. Full term birth, pyloric stenosis, surgery at 10 days old; no other major illness. Chronic encopresis. No dysmorphic features; hypotonia impacts ability to move arms and legs. Generalized seizures at age 16, abnormal EEG. Family history: both parents unaffected; two affected siblings (not tested).
 Profound ID (Vineland at 21 y: Communication 19, Daily Living Skills 19, Socialization 19, Adaptive Behavior Composite 19)
 50685077
 50782089
  97013
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case04HI2885A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU1164303; NDAR ID NDAR_INVRW499TKW)
 
 49997318
 50000594
  3277
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case168999
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 49145912
 49154382
  8471
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case46486
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 49270670
 49571268
  300599
 Unknown
 Deletion
 No
  roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase27
 8 yrs.
 F
 Learning disability (developmental delay/intellectual disability)
 No reported clinical features
 
 50594515
 50806138
  211624
 GRCh38
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case18388
 NA
 NA
 ASD
 NA
 NA
 49493686
 49549855
  56169
 Unknown
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case6385
 NA
 NA
 ASD
 NA
 NA
 49161956
 49345964
  184008
 Unknown
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11066.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ 86
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11098.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
 49422983
 49467384
  44402
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11101.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 57; verbal IQ, 38
 50630132
 50639823
  9692
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11195.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 93; verbal IQ, 86
 49447421
 49515169
  67749
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11239.p1
 17.3
 F
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 109; verbal IQ, 140
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11257.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 118
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11277.p1
 10.2
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
 50344544
 50345584
  1041
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11322.p1
 4.2
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11545.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 114; verbal IQ, 83
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11572.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 83; verbal IQ, 93
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11716.p1
 16.2
 M
 Autism
 NA
 Full-scale IQ, 48.88; non-verbal IQ, 78; verbal IQ, 20
 50577245
 50580150
  2906
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11878.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11914.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12073.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 105
 49447421
 49506600
  59180
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12255.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12339.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 63; verbal IQ, 33
 50630132
 50639823
  9692
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12366.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12376.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 104
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12483.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 92; verbal IQ, 102
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12671.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 98; verbal IQ, 108
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12820.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 72; verbal IQ, 47
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12960.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 52; verbal IQ, 42
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13065.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
 50344544
 50345584
  1041
 GRCh38
 Deletion
 No
  shin_15_ASD/DD/ID_discovery_cases-case15
 2 yrs.
 M
 Developmental delay
 Developmental delay
 
 48002739
 50716230
  2713492
 GRCh38
 Deletion
 Yes
  soorya_13_ASD/ID_discovery_cases-SH10
 2.9
 M
 Hyperactivity and repetitive behaviors
 DSM-IV and confirmed diagnosis of not ASD. ADI-R scores: A (social), 5; B (communication), 8; C (RRBIS), 3. ADOS-G Module 1 scores: communication total, 2; social total, 4; communication + social, 6; RRBI, 1; severity score, 3. VABS-II scores: ABC, 75; communication, 79; socialization, 83; daily living, 75; motor, 78. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hyperactivity, recurring URTIs, seasonal allergies. Dysmorphic features: large fleshy hands, long eyelashes, hypoplastic/dysplastic nails, sparse hair/abnormal whorl.
 Average IQ; non-verbal IQ 97.42
 50684518
 50785780
  101263
 GRCh38
 Deletion
 Yes
  soorya_13_ASD/ID_discovery_cases-SH14
 3.9
 F
 ASD and intellectual disability
 DSM-IV and confirmed diagnosis of ASD. ADI-R scores: A (social), 11; B (communication), 13; C (RRBIS), 3. ADOS-G Module 1 scores: communication total, 3; social total, 8; communication + social, 11; RRBI, 0; severity score, 4. VABS-II scores: ABC, 61; communication, 57; socialization, 75; daily living, 60; motor, 64. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, GERD, recurring URTIs. Dysmorphic features: large fleshy hands, ear anomalies, epicanthal folds, hyperextensibility.
 Moderate ID; non-verbal IQ 40.17
 49873604
 50785780
  912177
 GRCh38
 Deletion
 Yes
  soorya_13_ASD/ID_discovery_cases-SH18
 4.5
 F
 Intellectual disability
 DSM-IV and confirmed diagnosis of not ASD. ADI-R scores: A (social), 21; B (communication), 10; C (RRBIS), 3. ADOS-G Module 1 scores: communication total, 2; social total, 3; communication + social, 5; RRBI, 1; severity score, 2. VABS-II scores: ABC, 69; communication, 59; socialization, 70; daily living, 81; motor, 78. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hyperactivity, aggression, sleep disturbances, febrile seizures. Dysmorphic features: long eyelashes, hypoplastic/dysplastic nails, full lips, full cheeks, microcephaly.
 Mild ID; non-verbal IQ 53.9
 49683714
 50785780
  1102067
 GRCh38
 Deletion
 Yes
  soorya_13_ASD/ID_discovery_cases-SH20
 10.1
 M
 Autism and intellectual disability
 DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 24; B (communication), 14; C (RRBIS), 7. ADOS-G Module 1 scores: communication total, 7; social total, 7; communication + social, 14; RRBI, 5; severity score, 9. VABS-II scores: ABC, 51; communication, 57; socialization, 47; daily living, 50; motor, 61. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, hyperactivity, recurring URTIs, sleep disturbances, constipation/diarrhea. Dysmorphic features: large fleshy hands, long eyelashes, full lips, epicanthal folds, full cheeks.
 Severe ID; non-verbal IQ 23.08
 50644690
 50785780
  141091
 GRCh38
 Deletion
 Yes
  soorya_13_ASD/ID_discovery_cases-SH26
 8
 M
 Autism and intellectual disability
 DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 24; B (communication), 11; C (RRBIS), 6. ADOS-G Module 1 scores: communication total, 4; social total, 13; communication + social, 17; RRBI, 4; severity score, 8. VABS-II scores: ABC, 54; communication, 48; socialization, 57; daily living, 54; motor, 56. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, hyperactivity, aggression, GERD, recurring URTIs, renal abnormalities, seasonal allergies, asthma, eczema. Dysmorphic features: large fleshy hands, bulbous nose, long eyelashes, ear anomalies, hypoplastic/dysplastic nails, epicanthal folds, dolichocephaly, high arched palate, full cheeks, periorbital fullness, wide nasal bridge, long philtrum, sparse hair/abnormal whorl.
 Profound ID; non-verbal IQ 15.72
 49065028
 50785780
  1720753
 GRCh38
 Deletion
 Yes
  soorya_13_ASD/ID_discovery_cases-SH27
 27.8
 M
 Autism
 DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 18; B (communication), 6; C (RRBIS), 6. ADOS-G Module 1 scores: communication total, 6; social total, 8; communication + social, 14; RRBI, 4; severity score, 8. VABS-II scores: ABC, 20; communication, 21; socialization, 20; daily living, 21; motor, 22. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hyperactivity, aggression, GERD, sleep disturbances, constipation/diarrhea, seizures, celiac disease. Dysmorphic features: ear anomalies, full lips, macrocephaly, abnormal spine curvature, short stature, 5th finger clinodactyly.
 Non-verbal IQ N/A
 50677098
 50796015
  118918
 GRCh38
 Deletion
 No
  soorya_13_ASD/ID_discovery_cases-SH8
 3.6
 F
 Intellectual disability
 DSM-IV and confirmed diagnosis of not ASD. ADI-R scores: A (social), 20; B (communication), 8; C (RRBIS), 6. ADOS-G Module 1 scores: communication total, 2; social total, 3; communication + social, 5; RRBI, 2; severity score, 1. VABS-II scores: ABC, 65; communication, 59; socialization, 72; daily living, 66; motor, 75. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, hyperactivity, aggression, GERD, recurring URTIs, sleep disturbances, food allergies. Dysmorphic features: large fleshy hands, hypoplastic/dysplastic nails, epicanthal folds, hyperextensibility, abnormal spine curvature, wide nasal bridge, sacral dimple, syndactyly of toes 2-3.
 Mild ID; non-verbal IQ 57.74
 49178198
 50785780
  1607583
 GRCh38
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR053-F1-03C15328
 NA
 
 ASD
 NA
 NA
 49287813
 50140414
  852602
 GRCh38
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR072-F11-200501053
 NA
 
 ASD
 NA
 NA
 49287813
 50140414
  852602
 GRCh38
 Deletion
 Yes
  tammimies_15_ASD_discovery_cases-case3-0391-000
 N/A
 M
 ASD and intellectual disability
 Complex pineal gland cyst (7 mm). Dysmorphic features: double whorl, brachycephaly, upslanting palpebral fissures, short philtrum, smooth philtrum, thin upper lip, deep set fingernails, deep set toenails.
 Moderate intellectual disability (IQ of 59)
 50252394
 50759422
  507029
 GRCh38
 Deletion
 No
  tammimies_15_ASD_discovery_cases-case3-0392-000
 N/A
 F
 ASD and intellectual disability
 Bilateral vesicoureteral reflux. Dysmorphic features: macrocephaly, double crown and low hairlines, short prominent forehead and glabella, long palpebral fissures, hypertelorism, short and smooth philtrum, large fleshy ears, attached lobules, cross bite, cubitis valgus, large feet.
 Moderate intellectual disability (IQ of 51)
 49646734
 50796027
  1149294
 GRCh38
 Deletion
 No
  van_der_zwaag_09_ASD_discovery_cases-subject140-003
 NA
 F
 Non-complex autism
 NA
 NA
 49353082
 49368395
  15310
 Unknown
 Duplication
 Yes
  vucurovic_12_BPD_discovery_cases-case1
 18 yrs.
 M
 Bipolar disorder (BPD)
 DSM-IV-TR diagnosis of affective bipolar disorder not otherwise specified. Onset of early dementia suspected due to displays of stereotyped behavior, speech regression, and loss of bladder control at age of 17 years. Birth/neonatal history: prenatal karyotype performed due to advanced maternal age; born after full-term pregnancy without complication; growth parameters at birth within normal range. Developmental milestones: no hypotonia in early childhood; walked at 18 months; no difficulties in non-verbal communication and social integration skills in early childhood; daily bladder control acquired by age of 4 years (which was lost at age of 17 yrs.). Language and communication evaluation: severe expressive speech and receptive language delay noted at age of 3 years; poor language development noted at 6 years; regression of expressive speech at age of 17 years. Motor evaluation: motor hyperactivity noted at 16 years. Behavioral/psychiatric evaluation: mental status at age of 3 years associated a persistent pattern of inattention, hyperactivity and impulsive behavior; CARS evaluation score of 28 at age of 6 rated patient as "non-autistic'; patient displayed depressive mood and social isolation around age of 16 years; inpatient psychiatric evaluation at age of 16 years revealed euphoric mood, anorexia with weight loss, poor attention span, difficulties in concentration, disinhibited behavior, affective instability, expensive modd with rapid depressive shifts, but no stereotyped behavior; stereotyped behavior noted at age of 17 years. Brain imaging: no abnormalities observed on brain MRI. Sleep disturbances: non-specific sleep disorder that associated successive hypersomnia and insomnia periods noted at age of 6 years; total insomnia with psychomotor agitation noted at 16 years. Laboratory evaluation: lumbar puncture with dosage of CSF revealed low amyloid beta, low total tau, and normal phosphorylated tau levels. Other medical concerns and comorbidities: twice underwent surgery for severe gastro-esophageal reflux during early childhood. Dysmorphic features: high and narrow forehead, down-slanted palpebral fissures, high and broad nose, microstomia, asymmetric face, protruding ears, ptosis. Growth parameters: height of 1.68 m at 18 yrs. Karyotype: maternally-inherited balanced robertsonain translocation [rob(13;14)(q10;q10). Family history: older brother also inherited maternal rob(13;14)(q10;q10) translocation with no clinical consequences; recurrent depressive disorder in father reported in psychiatric family history.
 Diagnosis of severe intellectual deficiency made at age of 6 years after measure of adaptive functioning indicated behavioral profile of 3-year-old child; WISC assessment not possible due to poor language development.
 50642219
 50660852
  18634
 GRCh38
 Deletion
 Yes
  vucurovic_12_BPD_discovery_cases-case1
 18 yrs.
 M
 Bipolar disorder (BPD)
 DSM-IV-TR diagnosis of affective bipolar disorder not otherwise specified. Onset of early dementia suspected due to displays of stereotyped behavior, speech regression, and loss of bladder control at age of 17 years. Birth/neonatal history: prenatal karyotype performed due to advanced maternal age; born after full-term pregnancy without complication; growth parameters at birth within normal range. Developmental milestones: no hypotonia in early childhood; walked at 18 months; no difficulties in non-verbal communication and social integration skills in early childhood; daily bladder control acquired by age of 4 years (which was lost at age of 17 yrs.). Language and communication evaluation: severe expressive speech and receptive language delay noted at age of 3 years; poor language development noted at 6 years; regression of expressive speech at age of 17 years. Motor evaluation: motor hyperactivity noted at 16 years. Behavioral/psychiatric evaluation: mental status at age of 3 years associated a persistent pattern of inattention, hyperactivity and impulsive behavior; CARS evaluation score of 28 at age of 6 rated patient as "non-autistic'; patient displayed depressive mood and social isolation around age of 16 years; inpatient psychiatric evaluation at age of 16 years revealed euphoric mood, anorexia with weight loss, poor attention span, difficulties in concentration, disinhibited behavior, affective instability, expensive modd with rapid depressive shifts, but no stereotyped behavior; stereotyped behavior noted at age of 17 years. Brain imaging: no abnormalities observed on brain MRI. Sleep disturbances: non-specific sleep disorder that associated successive hypersomnia and insomnia periods noted at age of 6 years; total insomnia with psychomotor agitation noted at 16 years. Laboratory evaluation: lumbar puncture with dosage of CSF revealed low amyloid beta, low total tau, and normal phosphorylated tau levels. Other medical concerns and comorbidities: twice underwent surgery for severe gastro-esophageal reflux during early childhood. Dysmorphic features: high and narrow forehead, down-slanted palpebral fissures, high and broad nose, microstomia, asymmetric face, protruding ears, ptosis. Growth parameters: height of 1.68 m at 18 yrs. Karyotype: maternally-inherited balanced robertsonain translocation [rob(13;14)(q10;q10). Family history: older brother also inherited maternal rob(13;14)(q10;q10) translocation with no clinical consequences; recurrent depressive disorder in father reported in psychiatric family history.
 Diagnosis of severe intellectual deficiency made at age of 6 years after measure of adaptive functioning indicated behavioral profile of 3-year-old child; WISC assessment not possible due to poor language development.
 50677679
 50698957
  21279
 GRCh38
 Deletion
 Yes
  vucurovic_12_BPD_discovery_cases-case1
 18 yrs.
 M
 Bipolar disorder (BPD)
 DSM-IV-TR diagnosis of affective bipolar disorder not otherwise specified. Onset of early dementia suspected due to displays of stereotyped behavior, speech regression, and loss of bladder control at age of 17 years. Birth/neonatal history: prenatal karyotype performed due to advanced maternal age; born after full-term pregnancy without complication; growth parameters at birth within normal range. Developmental milestones: no hypotonia in early childhood; walked at 18 months; no difficulties in non-verbal communication and social integration skills in early childhood; daily bladder control acquired by age of 4 years (which was lost at age of 17 yrs.). Language and communication evaluation: severe expressive speech and receptive language delay noted at age of 3 years; poor language development noted at 6 years; regression of expressive speech at age of 17 years. Motor evaluation: motor hyperactivity noted at 16 years. Behavioral/psychiatric evaluation: mental status at age of 3 years associated a persistent pattern of inattention, hyperactivity and impulsive behavior; CARS evaluation score of 28 at age of 6 rated patient as "non-autistic'; patient displayed depressive mood and social isolation around age of 16 years; inpatient psychiatric evaluation at age of 16 years revealed euphoric mood, anorexia with weight loss, poor attention span, difficulties in concentration, disinhibited behavior, affective instability, expensive modd with rapid depressive shifts, but no stereotyped behavior; stereotyped behavior noted at age of 17 years. Brain imaging: no abnormalities observed on brain MRI. Sleep disturbances: non-specific sleep disorder that associated successive hypersomnia and insomnia periods noted at age of 6 years; total insomnia with psychomotor agitation noted at 16 years. Laboratory evaluation: lumbar puncture with dosage of CSF revealed low amyloid beta, low total tau, and normal phosphorylated tau levels. Other medical concerns and comorbidities: twice underwent surgery for severe gastro-esophageal reflux during early childhood. Dysmorphic features: high and narrow forehead, down-slanted palpebral fissures, high and broad nose, microstomia, asymmetric face, protruding ears, ptosis. Growth parameters: height of 1.68 m at 18 yrs. Karyotype: maternally-inherited balanced robertsonain translocation [rob(13;14)(q10;q10). Family history: older brother also inherited maternal rob(13;14)(q10;q10) translocation with no clinical consequences; recurrent depressive disorder in father reported in psychiatric family history.
 Diagnosis of severe intellectual deficiency made at age of 6 years after measure of adaptive functioning indicated behavioral profile of 3-year-old child; WISC assessment not possible due to poor language development.
 50731736
 50780581
  48846
 GRCh38
 Deletion
 Yes
  wang_10_ASD_discovery_cases-AC0058
 35
 F
 ASD
 NA
 NA
 50053284
 50739662
  686379
 GRCh38
 Deletion
 No
  xu_16_ASD/DD/ID_discovery_cases-case37
 N/A
 F
 Phelan-McDermid syndrome
 Profound speech delay, motor developmental delay, repetitive behaviors, significant self-injurious behaviors, aggression
 Severe intellectual disability
 50535313
 50796015
  260703
 GRCh38
 Deletion
 No
  yingjun_17_ASD_discovery_cases-case4229
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
 
 49900884
 50759297
  858414
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case633
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 50648836
 50796015
  147180
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case634
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 50648836
 50796015
  147180
 GRCh38
 Deletion
 No
  yuen_16_ASD_discovery_cases-sample3-0392-000
 N/A
 N/A
 ASD
 Case met criteria for ASD based on ADI-R, ADOS, and clinical evaluation. CNV detected in this case was not present in DGV.
 
 49645515
 49901543
  256029
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case2-0109-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
 
 50563571
 50787572
  224002
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case2-0242-003
 N/A
 M
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: milk intolerance. Additional genetic information: 46,XY,der(22)t(1;22)(q44;q13.33)pat.
 
 49991571
 50791572
  800002
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case2-0242-004
 N/A
 M
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: seasonal allergies and milk intolerance. Additional genetic information: 46,XY,der(1)t(1;22)(q44;q13.33)pat.
 
 49989571
 50806138
  816568
 GRCh38
 Duplication
 Yes
  yuen_17_ASD_discovery_cases-case2-0242-005
 N/A
 M
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: seasonal allergies, severe egg allergy and milk intolerance; cortical displacia. Additional genetic information: 46,XY,der(1)t(1;22)(q44;q13.33)pat.
 
 49991571
 50806138
  814568
 GRCh38
 Duplication
 Yes
  yuen_17_ASD_discovery_cases-case3-0391-000
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: Speech and Language Delay, Communication Skills Problem; Complex pineal gland cys; Double whorl, brachycephaly, upslanting palpebral fissures, short smooth philtrum and thin upper lip, deep set fingers and toe nails
 
 50246772
 50791572
  544801
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-caseAU2333302
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 50014902
 50806138
  791237
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB239915_1007841983
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49447421
  49506600
  59180
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB287525_1007875241
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49445015
  49506600
  61586
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB435341_1007840517
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49447421
  49506600
  59180
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB693312_1007841026
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49447421
  49506600
  59180
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB849884_1007854315
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49447421
  49514719
  67299
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900140_900140
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49447421
  49514719
  67299
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900597_900597
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49439044
  49506600
  67557
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900976_900976
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49963768
  50026435
  62668
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901236_901236
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49447421
  49506600
  59180
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901266_901266
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49447421
  49506600
  59180
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902681_902681
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49447421
  49506600
  59180
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902883_902883
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49447421
  49506600
  59180
  GRCh38
  Deletion
  No
  glessner_09_ASD_discovery_controls-disccontrol7
  NA
 
  Control
  NA
  NA
  50671564
  50739662
  68099
  GRCh38
  Deletion
  No
  glessner_09_ASD_replication_controls-repcontrol3
  NA
 
  Control
  NA
  NA
  50671564
  50739662
  68099
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11716.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11716. SRS score of 42.
 
  50577774
  50580271
  2498
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11716.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  50576856
  50580271
  3416
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13647.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  50117156
  50233526
  116371
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13851.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  50464328
  50684651
  220324
  GRCh38
  Duplication
  Yes
  kushima_18_ASD/SCZ_discovery_controls-controlCON1359
  23 yrs.
  F
  Control
  This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
 
  50438175
  50500606
  62432
  GRCh38
  Deletion
  N/A
  sanders_11_ASD_discovery_controls-11029.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  50344544
  50345584
  1041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11073.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  50344544
  50347289
  2746
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11098.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  50344544
  50345584
  1041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11234.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  50344544
  50345584
  1041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11372.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  49925431
  49955996
  30566
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11374.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  50344544
  50355232
  10689
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11410.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  50344544
  50345584
  1041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11450.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  50344544
  50345584
  1041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11568.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  50344544
  50345584
  1041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11712.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  50344544
  50345584
  1041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11716.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  50577245
  50580150
  2906
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11818.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  50344544
  50345584
  1041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11935.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  49445015
  49506600
  61586
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12157.s1
  12.8
  M
  Control (matched sibling)
  NA
  NA
  50271920
  50282064
  10145
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12255.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  50344544
  50345584
  1041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12438.s1
  6.4
  M
  Control (matched sibling)
  NA
  NA
  50344544
  50345584
  1041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12573.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  50344544
  50345584
  1041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12617.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  50344544
  50345584
  1041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12736.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  49533683
  49549848
  16166
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13005.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  49447421
  49506600
  59180
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG2451
 
 
 Unknown
 Unknown
 Unknown
 RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
 
 battaglia_13_DD/ID/ASD_discovery_cases-case67
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,SBF1,CHKB,SHANK3
 
 boccuto_12_ASD_discovery_cases-case14878
 
 
 De novo
 
 
 SHANK3
 
 brandler_18_ASD_discovery_cases-caseMT_47.3
 SNP VCF
 
 De novo
 
 
 
 
 brandler_18_ASD_discovery_cases-caseSJD_65.3
 PCR or SNP data validation (SNP VCF)
 
 De novo
 
 
 ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,SBF1,CHKB,SHANK3
 
 breckpot_16_ID/catatonia_discovery_cases-case1
 
 
 De novo
 
 Possibly segregated
 RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
 
 breckpot_16_ID/catatonia_discovery_cases-case2
 
 
 Unknown
 
 Unknown
 RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
 
 bremer_11_ASD_discovery_cases-case11
 MLPA, FISH
 
 De novo
 NA
 NA
 ACR,SHANK3
 
 chen_17_ASD_discovery_cases-caseU-1459
 RT-qPCR
 
 Unknown
 
 
 RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
 
 chen_17_ASD_discovery_cases-caseU-1957
 RT-qPCR
 
 Unknown
 
 
 RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
 
 chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH2159
 Nimblegen aCGH
 
 De novo
 Unknown
 Unknown
 SHANK3
 
 christian_08_ASD_discovery_cases-AU003404
 FISH, microsatellite
 
 inherited
 Multiplex
 NA
 RPL35P8,MIR3667,C22orf34
 
 coe_14_ASD/DD/ID_discovery_cases-case448
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case449
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case450
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case451
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case452
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case453
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case454
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case455
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case456
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case457
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case458
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case459
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case460
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case461
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case462
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case463
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case464
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case465
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case466
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case467
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case468
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case469
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case470
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case471
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case472
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case473
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case474
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case475
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case476
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case477
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case478
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case479
 
 
 Unknown
 Unknown
 
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case480
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case481
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case482
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case483
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case484
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case485
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case486
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case487
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case488
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case489
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case490
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case491
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case492
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case493
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case494
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case495
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case496
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case497
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case498
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case499
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case500
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 coe_14_ASD/DD/ID_discovery_cases-case501
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,SHANK3
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_296424
 qPCR
 
 Paternal (translocation)
 
 
 ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,SBF1,CHKB,SHANK3
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300608
 qPCR
 
 Unknown
 
 
 PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,MLC1,SBF1,CHKB,SHANK3
 
 engchuan_15_ASD_discovery_cases-case13162_1793
 
 
 Unknown
 
 
 C22orf34
 
 engchuan_15_ASD_discovery_cases-case16079_1571066001
 
 
 De novo
 
 
 RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
 
 engchuan_15_ASD_discovery_cases-case3394_3
 
 
 Unknown
 
 
 C22orf34
 
 engchuan_15_ASD_discovery_cases-case3505_3
 
 
 Unknown
 
 
 SCO2,ODF3B,KLHDC7B,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B
 
 engchuan_15_ASD_discovery_cases-case5125_3
 
 
 Unknown
 
 
 C22orf34
 
 engchuan_15_ASD_discovery_cases-case5519_3
 
 
 Unknown
 
 
 C22orf34
 
 engchuan_15_ASD_discovery_cases-case6125_4
 
 
 Unknown
 
 
 TTLL8,MOV10L1,MLC1
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER264167
 
 
 De novo
 Simplex
 Segregated
 ACR,SHANK3
 
 gai_11_ASD_discovery_cases-AU1289301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1289302
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU024003
 
 
 Inherited
 
 
 C22orf34
 
 gai_11_ASD_replication_cases-AU069404
 
 
 Inherited
 
 
 C22orf34
 
 gai_11_ASD_replication_cases-AU069405
 
 
 Inherited
 
 
 C22orf34
 
 gazzellone_14_ASD_discovery_cases-case533-3
 
 
 Unknown
 Unknown
 Unknown
 C22orf34
 
 girirajan_12_ASD/DD/ID_discovery_cases-case32825
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,ACR,SHANK3
 
 glessner_09_ASD_discovery_cases-9742760001
 Array SNP
 
 Unknown
 Unknown
 NA
 RNU6-409P,ACR,SHANK3
 
 glessner_09_ASD_discovery_cases-AU02603
 Array SNP
 
 Unknown
 Unknown
 NA
 RNU6-409P,ACR,SHANK3
 
 gorker_18_ASD_discovery_cases-case1
 
 
 Unknown
 Unknown
 Unknown
 CNV gene content N/A
 
 guilherme_14_DD/EP/ASD_discovery_cases-case5
 FISH
 
 De novo
 Simplex
 Segregated
 ARSA,SHANK3,ACR,RABL2B
 
 guilmatre_09_ASD_discovery_cases-case47604
 QMPSF, aCGH, or FISH
 
 De novo
 NA
 NA
 SHANK3, 28 other genes
 
 guilmatre_09_ASD_discovery_cases-caseSi22
 QMPSF, aCGH, or FISH
 
 De novo
 NA
 NA
 SHANK3
 
 hnoonual_17_ASD_discovery_cases-case2950
 
 
 Unknown
 
 
 PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,SBF1,CHKB,SHANK3
 
 iourov_12_ASD/ID/EP_discovery_cases-case22
 
 
 Unknown
 Unknown
 Unknown
 MIR3667,RN7SKP252,PIM3,MIR6821,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,C22orf34,BRD1,MLC1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000790
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,ACR,SHANK3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000944
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,ACR,SHANK3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001206
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,SBF1,CHKB
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001887
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,ARSA,ACR,SHANK3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004051
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,ACR,SHANK3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004935
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,ACR,SHANK3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005376
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,ACR,SHANK3
 
 krumm_13_ASD_discovery_cases-case11716.p1
 
 
 Paternal
 Simplex
 Not segregated
 CPT1B,CHKB-CPT1B,CHKB
 
 krumm_15_ASD_discovery_cases-case11716.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CPT1B,CHKB-CPT1B,CHKB
 
 krumm_15_ASD_discovery_cases-case13647.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 PANX2,TRABD,MOV10L1,SELENOO,TUBGCP6
 
 leblond_14_ASD_replication_cases-caseAUN_006
 
 
 De novo
 Unknown
 Possibly segregated
 SHANK3, ACR, RABL2B
 
 leblond_14_ASD_replication_cases-caseAUN_007
 
 
 De novo
 Unknown
 Possibly segregated
 SHANK3, ACR
 
 marcou_17_DD/ID_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown
 ALG12
 
 marshall_08_ASD_discovery_cases-MM0102-003
 qPCR, qmPCR
 
 Maternal
 Multiplex
 NA
 C22orf34
 
 marshall_08_ASD_discovery_cases-MM0109-003
 qPCR, qmPCR
 
 De novo
 Simplex
 NA
 SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CHKB,SHANK3
 
 moessner_07_ASD_discovery_cases-case1
 qPCR, FISH
 
 De novo
 Simplex
 NA
 SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CHKB,SHANK3
 
 moreira_14_ASD/EP_discovery_cases-case10
 Array SNP
 
 De novo
 Unknown
 Unknown
 PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,MLC1,SBF1,CHKB,SHANK3
 
 moreira_14_ASD/EP_discovery_cases-case9
 Array SNP
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CHKB,SHANK3
 
 mosca_16_DCD_discovery_cases-case121503
 qPCR
 
 Maternal
 Simplex
 Not segregated
 SHANK3
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-258891
 
 
 Unknown
 Unknown
 Unknown
 MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
 
 nord_11_ASD_discovery_cases-255-1
 
 
 Paternal
 
 
 C22orf34
 
 pfundt_16_nonNDD_discovery_cases-case132
 
 
 
 
 
 ZBED4,ALG12,CRELD2,BRD1
 
 philippe_15_ASD/CDD_discovery_cases-case1
 qPCR, MLPA
 
 Unknown (not maternal)
 
 Unknown
 RNU6-409P,SHANK3
 
 pinto_10_ASD_discovery_cases-case5125_3
 Agilent1M
 
 paternal
 NA
 NA
 C22orf34
 
 pinto_10_ASD_discovery_cases-case5519_3
 Agilent1M
 
 paternal
 NA
 NA
 C22orf34
 
 pinto_10_ASD_discovery_cases-case6046_4
 qPCR-Bothparents,MLPA
 
 Both parents
 Multiplex
 Segregated
 ACR,MGC70863,SHANK3,RABL2B
 
 pinto_14_ASD_discovery_cases2-case14291_4120
 LR-PCR (sequencing coordinates: 49468716-49485255, size 16,540 bp)
 
 De novo
 Simplex
 Segregated (no siblings)
 RNU6-409P,SHANK3
 
 pinto_14_ASD_discovery_cases2-case16079_1571066001
 qPCR (mother has a DNA issue; not-paternal by qPCR; de novo DEL by plotting-visual inspection)
 
 De novo
 Simplex
 Likely segregated (2 unaffected siblings, not tested)
 RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
 
 poultney_13_ASD_discovery_cases-case04HI2885A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 IL17REL
 
 prasad_12_ASD_discovery_cases-case168999
 
 
 Unknown
 Unknown
 Unknown
 PPP6R2
 
 prasad_12_ASD_discovery_cases-case46486
 
 
 Unknown
 Unknown
 Unknown
 LMF2,NCAPH2,C22orf41,MAPK8IP2,ARSA,RPL23AP82,CHKB-CPT1B,ODF3B,CPT1B,RABL2B,ACR,TYMP,MIOX,SCO2,KLHDC7B,CHKB,SHANK3,ADM2,LOC100144603
 
 roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase27
 BACs aCGH or FISH
 
 De novo
 Unknown
 Unknown
 RNU6-409P,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CHKB,SHANK3
 
 rosenfeld_10_ASD_discovery_cases-case18388
 FISH
 
 De novo
 Unknown
 Unknown
 SHANK3,ACR
 
 rosenfeld_10_ASD_discovery_cases-case6385
 FISH
 
 Unknown
 Unknown
 Unknown
 PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3
 
 sanders_11_ASD_discovery_cases-11066.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 PPP6R2
 
 sanders_11_ASD_discovery_cases-11098.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 C22orf34
 
 sanders_11_ASD_discovery_cases-11101.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11195.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C22orf34
 
 sanders_11_ASD_discovery_cases-11239.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PPP6R2
 
 sanders_11_ASD_discovery_cases-11257.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 PPP6R2
 
 sanders_11_ASD_discovery_cases-11277.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 PPP6R2
 
 sanders_11_ASD_discovery_cases-11322.p1
 
 
 Both parents
 Simplex (trio)
 NA
 PPP6R2
 
 sanders_11_ASD_discovery_cases-11545.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PPP6R2
 
 sanders_11_ASD_discovery_cases-11572.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PPP6R2
 
 sanders_11_ASD_discovery_cases-11716.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CPT1B,CHKB-CPT1B,CHKB
 
 sanders_11_ASD_discovery_cases-11878.p1
 
 
 Both parents
 Simplex (trio)
 NA
 PPP6R2
 
 sanders_11_ASD_discovery_cases-11914.p1
 
 
 Both parents
 Simplex (trio)
 NA
 PPP6R2
 
 sanders_11_ASD_discovery_cases-12073.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C22orf34
 
 sanders_11_ASD_discovery_cases-12255.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 PPP6R2
 
 sanders_11_ASD_discovery_cases-12339.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12366.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 PPP6R2
 
 sanders_11_ASD_discovery_cases-12376.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PPP6R2
 
 sanders_11_ASD_discovery_cases-12483.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PPP6R2
 
 sanders_11_ASD_discovery_cases-12671.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PPP6R2
 
 sanders_11_ASD_discovery_cases-12820.p1
 
 
 Both parents
 Simplex (trio)
 NA
 PPP6R2
 
 sanders_11_ASD_discovery_cases-12960.p1
 
 
 Both parents
 Simplex (trio)
 NA
 PPP6R2
 
 sanders_11_ASD_discovery_cases-13065.p1
 
 
 Both parents
 Simplex (trio)
 NA
 PPP6R2
 
 shin_15_ASD/DD/ID_discovery_cases-case15
 Array SNP (Affymetrix CytoScan 750K)
 
 Unknown
 
 Unknown
 MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
 
 soorya_13_ASD/ID_discovery_cases-SH10
 MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
 
 De novo
 
 
 RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
 
 soorya_13_ASD/ID_discovery_cases-SH14
 MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
 
 De novo
 
 
 PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,MLC1,SBF1,CHKB,SHANK3
 
 soorya_13_ASD/ID_discovery_cases-SH18
 MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
 
 De novo
 
 
 RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,BRD1,MLC1,SBF1,CHKB,SHANK3
 
 soorya_13_ASD/ID_discovery_cases-SH20
 MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
 
 De novo
 
 
 RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
 
 soorya_13_ASD/ID_discovery_cases-SH26
 MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
 
 De novo
 
 
 RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
 
 soorya_13_ASD/ID_discovery_cases-SH27
 
 
 De novo
 
 
 RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
 
 soorya_13_ASD/ID_discovery_cases-SH8
 MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
 
 De novo
 
 
 RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
 
 szatmari_07_ASD_discovery_cases-NAAR053-F1-03C15328
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 MIR3667,RN7SKP252,PIM3,MIR6821,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,C22orf34,BRD1,MLC1
 
 szatmari_07_ASD_discovery_cases-NAAR072-F11-200501053
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 MIR3667,RN7SKP252,PIM3,MIR6821,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,C22orf34,BRD1,MLC1
 
 tammimies_15_ASD_discovery_cases-case3-0391-000
 
 
 De novo
 Unknown
 Possibly segregated
 ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,SBF1,CHKB,SHANK3
 
 tammimies_15_ASD_discovery_cases-case3-0392-000
 
 
 De novo
 Unknown
 Possibly segregated
 RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
 
 van_der_zwaag_09_ASD_discovery_cases-subject140-003
 qPCR
 
 De novo
 NA
 NA
 ARSA
 
 vucurovic_12_BPD_discovery_cases-case1
 qPCR, FISH
 
 De novo
 Simplex
 Likely segregated
 
 
 vucurovic_12_BPD_discovery_cases-case1
 qPCR, FISH
 
 De novo
 Simplex
 Likely segregated
 RNU6-409P,SHANK3
 
 vucurovic_12_BPD_discovery_cases-case1
 qPCR, FISH
 
 De novo
 Simplex
 Likely segregated
 ACR,RPL23AP82,RABL2B,SHANK3
 
 wang_10_ASD_discovery_cases-AC0058
 
 
 Unknown
 NA
 NA
 PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,MLC1,SBF1,CHKB,SHANK3
 
 xu_16_ASD/DD/ID_discovery_cases-case37
 
 
 Unknown (not maternal)
 
 
 KLHDC7B,CHKB-DT,RNU6-409P,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CHKB,SHANK3
 
 yingjun_17_ASD_discovery_cases-case4229
 N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
 
 Unknown
 Unknown
 Unknown
 PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,MLC1,SBF1,CHKB,SHANK3
 
 yin_16_ASD_discovery_cases-case633
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
 
 yin_16_ASD_discovery_cases-case634
 
 
 Unknown
 Unknown
 Unknown
 RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
 
 yuen_16_ASD_discovery_cases-sample3-0392-000
 qPCR and/or Sanger sequencing
 
 De novo
 Simplex
 Segregated
 RN7SKP252,RPL5P35,ZBED4,ALG12,C22orf34,BRD1
 
 yuen_17_ASD_discovery_cases-case2-0109-003
 Affymetrix 6.0
 
 De novo
 Simplex
 Segregated
 CHKB-DT,RNU6-409P,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CHKB,SHANK3
 
 yuen_17_ASD_discovery_cases-case2-0242-003
 Affymetrix 6.0
 
 Possibly paternal [unbalanced translocation 46,XY,der(22)t(1;22)(q44;q13.33)pat]
 Multiplex
 Possibly segregated
 PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,MLC1,SBF1,CHKB,SHANK3
 
 yuen_17_ASD_discovery_cases-case2-0242-004
 Affymetrix 6.0
 
 Possibly paternal [unbalanced translocation 46,XY,der(22)t(1;22)(q44;q13.33)pat]
 Multiplex
 Possibly segregated
 PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,MLC1,SBF1,CHKB,SHANK3
 
 yuen_17_ASD_discovery_cases-case2-0242-005
 Affymetrix 6.0
 
 Possibly paternal [unbalanced translocation 46,XY,der(22)t(1;22)(q44;q13.33)pat]
 Multiplex
 Possibly segregated
 PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,MLC1,SBF1,CHKB,SHANK3
 
 yuen_17_ASD_discovery_cases-case3-0391-000
 Affymetrix CytoScan HD
 
 De novo
 Simplex
 Segregated
 ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,SBF1,CHKB,SHANK3
 
 yuen_17_ASD_discovery_cases-caseAU2333302
 Not available
 
 De novo
 Simplex
 Segregated
 PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,MLC1,SBF1,CHKB,SHANK3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB239915_1007841983
 
 
  Unknown
 
 
  C22orf34
 
engchuan_15_ASD_discovery_controls-controlB287525_1007875241
 
 
  Unknown
 
 
  C22orf34
 
engchuan_15_ASD_discovery_controls-controlB435341_1007840517
 
 
  Unknown
 
 
  C22orf34
 
engchuan_15_ASD_discovery_controls-controlB693312_1007841026
 
 
  Unknown
 
 
  C22orf34
 
engchuan_15_ASD_discovery_controls-controlB849884_1007854315
 
 
  Unknown
 
 
  C22orf34
 
engchuan_15_ASD_discovery_controls-controlHABC_900140_900140
 
 
  Unknown
 
 
  C22orf34
 
engchuan_15_ASD_discovery_controls-controlHABC_900597_900597
 
 
  Unknown
 
 
  C22orf34
 
engchuan_15_ASD_discovery_controls-controlHABC_900976_900976
 
 
  Unknown
 
 
  PIM3,IL17REL,TTLL8
 
engchuan_15_ASD_discovery_controls-controlHABC_901236_901236
 
 
  Unknown
 
 
  C22orf34
 
engchuan_15_ASD_discovery_controls-controlHABC_901266_901266
 
 
  Unknown
 
 
  C22orf34
 
engchuan_15_ASD_discovery_controls-controlHABC_902681_902681
 
 
  Unknown
 
 
  C22orf34
 
engchuan_15_ASD_discovery_controls-controlHABC_902883_902883
 
 
  Unknown
 
 
  C22orf34
 
glessner_09_ASD_discovery_controls-disccontrol7
 
 
  Unknown
  Unknown
  NA
  RNU6-409P,ACR,SHANK3
 
glessner_09_ASD_replication_controls-repcontrol3
 
 
  Unknown
  Unknown
  NA
  RNU6-409P,ACR,SHANK3
 
krumm_13_ASD_discovery_controls-control11716.s1
 
 
  Paternal
  Simplex
 
  CPT1B,CHKB-CPT1B,CHKB
 
krumm_15_ASD_discovery_controls-control11716.s1
  Illumina 1MDuo
 
  Paternal
 
 
  CPT1B,CHKB-CPT1B,CHKB
 
krumm_15_ASD_discovery_controls-control13647.s1
  Omni2.5-4v1
 
  Maternal
 
 
  PANX2,TRABD,MOV10L1,SELENOO,TUBGCP6
 
krumm_15_ASD_discovery_controls-control13851.s1
  Omni2.5-4v1
 
  Maternal
 
 
  ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,SBF1,CHKB,SHANK3
 
kushima_18_ASD/SCZ_discovery_controls-controlCON1359
  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
 
 
  ADM2,MIOX,PPP6R2,SBF1
 
sanders_11_ASD_discovery_controls-11029.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-11073.s1
 
 
  Unknown
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Unknown
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-11234.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-11372.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CRELD2
 
sanders_11_ASD_discovery_controls-11374.s1
 
 
  Unknown
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-11410.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-11450.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-11568.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-11712.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-11716.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CPT1B,CHKB-CPT1B,CHKB
 
sanders_11_ASD_discovery_controls-11818.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-11935.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C22orf34
 
sanders_11_ASD_discovery_controls-12157.s1
 
 
  Unknown
  Simplex (quad)
  NA
  PLXNB2
 
sanders_11_ASD_discovery_controls-12255.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-12438.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-12573.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-12617.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PPP6R2
 
sanders_11_ASD_discovery_controls-12736.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR3667,C22orf34
 
sanders_11_ASD_discovery_controls-13005.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C22orf34
 

No Animal Model Data Available
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