19p12CNV Type: Deletion-Duplication
Largest CNV size: 277000 bp
Statistics Box:
Number of Reports: 25
Number of Reports: 25
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion-Duplication
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
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
465550
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
418000
4
0
4
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
984104
7
17
24
fan_18_DD/ID_discovery_cases
Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
3
All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors
Range, 4-9 yrs.
33.33% Male
131869
1
0
1
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
1033076
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
76492
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
437000
1
1
2
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
205175
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1210855
1
1
2
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
102717
1
0
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1100000
2
1
3
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
277000
0
2
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
27862
0
1
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
607000
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
153000
1
1
2
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
110250
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
155777
1
3
4
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
573704
3
2
5
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
357943
3
2
5
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
158522
16
7
23
shen_10b_ASD_discovery_cases
Father and son from a three-generation Chinese family with ASD and language delay.
2
Diagnosis of ASD based upon DSM-IV criteria.
Range, 12-41 yrs.
100% Male
70825
2
0
2
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
120000
5
0
5
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
166181
1
0
1
tabet_12_ASD_discovery_cases
Three affected siblings from an autism multiplex family born to non-consanguineous parents.
3
Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
Range, 17 yrs. 6 mos.-21 yrs.
100% Male
93400
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
67779
0
4
4
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
537693
8
20
28
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
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
600000
0
1
1
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.
95173
1
1
2
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
573704
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.
344809
8
11
19
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
120000
1
0
1
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
166181
1
0
1
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
67779
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
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
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_18_DD/ID_discovery_cases
Chinese
Array SNP, solid phase hybridization
Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
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_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
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
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
shen_10b_ASD_discovery_cases
Chinese
aCGH
Agilent 244K
DNA Analytics
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
tabet_12_ASD_discovery_cases
Mixed ethnic background (father Caucasian, mother from Mauritius)
Solid phase hybridization
Illumina HumanCNV370-Duo BeadChip
CNVPartition v3.1.1, Penn CNV
BeadStudio v3.2
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG0134
N/A
M
Intellectual disability
Intellectual disability with dysmorphic features and microcephaly, bilateral cataract, nystagmus, hypotonia. Consanguineous parents. Father not tested
Intellectual disability
19959419
20412606
453188
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299786
N/A
M
Developmental delay/intellectual disability
23441926
23860253
418328
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299969
N/A
M
Developmental delay/intellectual disability
23672282
23728464
56183
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300768
N/A
M
Developmental delay/intellectual disability
23441926
23860253
418328
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_301218
N/A
M
Developmental delay/intellectual disability
23672282
23809111
136830
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13217_2393
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20553670
20906050
352381
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1395_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20858544
20934997
76454
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14198_3220
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22067334
22170054
102721
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14211_3380
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19862643
20355246
492604
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14260_3830
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22067334
22170054
102721
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14376_4890
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23357415
23763067
405653
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14418_5270
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20651291
20807649
156359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18188_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20651291
20807649
156359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21006_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23437830
24421934
984105
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2279_102
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19887793
20303053
415261
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3436_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4173_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23910181
24122649
212469
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4441_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22791701
22828184
36484
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4450_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23437830
23887495
449666
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5017_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5214_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22708471
22770144
61674
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5244_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20142212
20300734
158523
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5297_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20553670
20626370
72701
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5323_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6006_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6043_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6278_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6357_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8647_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20651291
20807649
156359
GRCh38
Duplication
No
fan_18_DD/ID_discovery_cases-subject3
6 yrs.
F
Developmental delay/intellectual disability and autistic features
Developmental milestones: severe delays in gross and fine motor skill development, extremely severe delays in language development and social communication development, severe delays in adaptivity. Language and communication evaluation: language ability equivalent to 13 months. Behavioral/psychiatric evaluation: autistic behaviors, stereotypic behavior (hand flapping). Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: height and weight both normal, head circumference -1 SD ~ -2 SD.
Severe intellectual disability
20412607
20537899
125293
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU014505
Autism
21867544
22887073
1019530
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU014506
Autism
21853998
22887073
1033076
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0915302
Autism
23412472
23851795
439324
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case537-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
23712213
23788705
76493
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-12224.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
20425354
20805354
380001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU0915301
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
23445358
23875358
430001
GRCh38
Deletion
No
itsara_10_ASD_discovery_cases-HI1617
NA
NA
Autism
NA
NA
20499249
20704424
205176
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003916
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20105221
20818543
713323
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004170
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21591877
22802732
1210856
GRCh38
Duplication
Yes
leblond_12_ASD_replication_cases-Pintocase5237_3
NA
M
Autism
Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
Below average non-verbal IQ (<1st %ile)
20429839
20532555
102717
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU01456
N/A
M
ASD
21879198
22935198
1056001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU0915302
N/A
M
ASD
23438198
23970198
532001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU1749302
N/A
M
ASD
23426198
23935198
509001
GRCh38
Duplication
No
morrow_08_ASD_discovery_cases-case3601
NA
ASD
NA
NA
19914000
20178000
264000
Unknown
Duplication
No
morrow_08_ASD_discovery_cases-case3602
NA
ASD
NA
NA
19875000
20152000
277000
Unknown
Duplication
No
mosca_16_DCD_discovery_cases-case103303
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
20168800
20196661
27862
GRCh38
Duplication
No
napoli_17_ASD_discovery_cases-case33
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
23253739
23860253
606515
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam1020Proband10760
N/A
F
ASD
Additional clinical profile info N/A
ID
23659821
23752196
92376
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam1027Proband10761
N/A
M
ASD
Additional clinical profile info N/A
ID
20652173
20804744
152572
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
N/A
M
ASD and ADHD
Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
TIQ score of 109
20412607
20518814
106208
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5017_3
NA
M
Autism
Below average language (1%ile), no epilepsy, no dysmorphic features
MR (unable to complete IQ measure)
20651291
20807067
155777
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5214_3
NA
M
ASD
NA
NA
22708471
22770144
61674
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5297_3
NA
M
ASD
NA
NA
20553670
20626370
72701
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5323_3
NA
M
ASD
NA
NA
20651291
20807067
155777
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case47838
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
21510580
21516979
6400
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case60965L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
20530252
20601219
70968
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68257
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
20114929
20270925
155997
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case89772
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
22679225
22743516
64292
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case94478
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
19943896
20517599
573704
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1055-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
20411294
20548739
137446
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1213-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: yes.
20439022
20553670
114649
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1296-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
20661070
20807067
145998
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1390-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: yes.
20411294
20548739
137446
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1392-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: no.
Developmental delay: yes. Intellectual disability: yes.
23278622
23636564
357943
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
21209042
21211375
2334
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11216.p1
4.7
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
24117919
24122649
4731
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11220.p1
12.1
F
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
20651291
20807067
155777
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11252.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
21209042
21211375
2334
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11290.p1
11.3
M
ASD
NA
Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 115
19915131
20019429
104299
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11356.p1
11.5
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
20142212
20300734
158523
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11464.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
24117919
24120621
2703
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11473.p1
11.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
21209042
21211375
2334
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11498.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 102; verbal IQ, 110
20583852
20588017
4166
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11910.p1
5.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 113
20898213
20918943
20731
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
22239628
22262849
23222
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12087.p1
5.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 108
21282297
21291587
9291
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12224.p1
4.3
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 78
24117919
24120621
2703
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12274.p1
5.4
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 30
21852017
21927417
75401
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12335.p1
6.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
20660867
20807649
146783
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12456.p1
14.3
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
24117919
24122649
4731
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12645.p1
4.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 84; verbal IQ, 94
20660867
20807649
146783
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12787.p1
7.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
20918943
20932323
13381
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12923.p1
4.4
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
21209042
21211375
2334
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12933.p1
10
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 41; verbal IQ, 44
20217070
20300734
83665
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12939.p1
12.8
M
Autism
NA
Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
23629658
23641058
11401
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12998.p1
4.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
24304548
24308142
3595
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13168.p1
7.9
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
20651291
20807649
156359
GRCh38
Duplication
No
shen_10b_ASD_discovery_cases-caseII:5
41 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
IQ not tested; significant childhood learning disability
20422576
20493401
70825
Unknown
Deletion
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
20422576
20493401
70825
Unknown
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK42
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
20413299
20533334
120036
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK43
N/A
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
20415623
20533347
117725
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK44
N/A
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
20413299
20533334
120036
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK45
N/A
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
20413299
20533570
120272
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK46
N/A
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
20415623
20533570
117948
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family7_Twin_2
N/A
N/A
NDD
Case is from a monozygotic twin pair from the Discordant NDD diagnostic group
21765722
21931902
166181
GRCh38
Deletion
No
tabet_12_ASD_discovery_cases-patient2
17 yrs. 6 mos.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 3 yrs. 2 mos.): social score, 23; communication score, 14 (non-verbal); repetitive behavior, 4; onset, 4; diagnosis of autism. ADOS module 1 evaluation (at 18 yrs. 5 mos.): communication, 6; social interaction, 14; total; 20; play, 4; interesta and behavior, 8; diagnosis of autism. CARS evaluation (at 10 yrs. 3 mos.): composite score of 37; diagnosis of mild-moderate autism. VABS II evaluation (at 18 yrs. 5 mos.): communication, 11; daily living, 23; socialization, 1; maladaptive behaviors, 20. Developmental milestones: normal development followed by regression at 26 mo; language regression at 26 mo; non verbal. Neurological evaluation: hyporeflexia, no motor deficit. Other behaviors: not fully toilet trained, hyperactivity, short and agitated sleep . Brain MRI: white matter hyperintensities, moderate cortical atrophy and thin corpus callosum. Dysmorphic features & malformations: triangular face, broad forehead, prominent orbital ridge, deep set eyes, upslanting palpebral fissures, thick upslant eyebrows, myopia, strabismus, large, prominent nasal bridge, wide, bulbous tip, anteverted nares, everted lower lip, tented philtrum wide cupid's bow, overbite, retrognathia with marked chin, backward tilted ears, ventricular septal defect (VSD), slender habitus, sternum deformity, mild scoliosis, cubitus valgus, long fingers and toes, bilateral single palmar creases and sandal gap. Growth parameters: height, 173 cm (normal range); weight, 49 kg (-2 SD); head circumference, 55 cm (-1 SD). Recurrent infections: recurrent otitis, nose and throat infections in childhood. Family history: monozygotic twin brother with autism; older brother with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
Severe intellectual disability. Ravens Colored Progressive Matrices (RCPM) at 18 yrs 4 mos.: full-scale IQ <1st %ile
20439022
20532422
93401
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case544
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
21901463
21969241
67779
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case545
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
21901463
21969241
67779
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case546
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
23029470
23063598
34129
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case547
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
23308435
23349206
40772
GRCh38
Duplication
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-control110036023307_
N/A
N/A
Control
No previous psychiatric history
19965350
20273247
307898
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB224293_1007841226
N/A
N/A
Control
No previous psychiatric history
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB231021_1007853960
N/A
N/A
Control
No previous psychiatric history
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB246221_1007853829
N/A
N/A
Control
No previous psychiatric history
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB267330_1007841417
N/A
N/A
Control
No previous psychiatric history
21120940
21172670
51731
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB382816_1007872257
N/A
N/A
Control
No previous psychiatric history
22089813
22288354
198542
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB402156_0067942641
N/A
N/A
Control
No previous psychiatric history
20660867
20870118
209252
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB407698_1007840266
N/A
N/A
Control
No previous psychiatric history
23421111
23958804
537694
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB468914_1007854173
N/A
N/A
Control
No previous psychiatric history
21618479
21709141
90663
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB476509_1007853948
N/A
N/A
Control
No previous psychiatric history
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB621318_1007875104
N/A
N/A
Control
No previous psychiatric history
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB649933_1007874697
N/A
N/A
Control
No previous psychiatric history
22986997
23225327
238331
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB701542_1007873365
N/A
N/A
Control
No previous psychiatric history
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB752003_1007876006
N/A
N/A
Control
No previous psychiatric history
20651291
20807067
155777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900049_900049
N/A
N/A
Control
No previous psychiatric history
20865508
20932323
66816
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900088_900088
N/A
N/A
Control
No previous psychiatric history
20651291
20807649
156359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900102_900102
N/A
N/A
Control
No previous psychiatric history
20651291
20807649
156359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900130_900130
N/A
N/A
Control
No previous psychiatric history
21063815
21168324
104510
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900270_900270
N/A
N/A
Control
No previous psychiatric history
20651291
20807649
156359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900335_900335
N/A
N/A
Control
No previous psychiatric history
23703596
23864558
160963
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900466_900466
N/A
N/A
Control
No previous psychiatric history
23713402
23776036
62635
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900696_900696
N/A
N/A
Control
No previous psychiatric history
20651291
20807649
156359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900775_900775
N/A
N/A
Control
No previous psychiatric history
23872409
23969933
97525
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
N/A
N/A
Control
No previous psychiatric history
20651291
20807649
156359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901120_901120
N/A
N/A
Control
No previous psychiatric history
20743945
20831597
87653
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901122_901122
N/A
N/A
Control
No previous psychiatric history
20651291
20807649
156359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902569_902569
N/A
N/A
Control
No previous psychiatric history
20651291
20807649
156359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902593_902593
N/A
N/A
Control
No previous psychiatric history
20651291
20807649
156359
GRCh38
Duplication
No
leppa_16_ASD_discovery_controls-AU4014303
N/A
F
Control
Unaffected sibling
19925191
20412606
487416
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27245
Control
23673332
23707350
34019
Unknown
Deletion
nord_11_ASD_discovery_controls-04C28227
Control
23847827
23942999
95173
Unknown
Duplication
sanders_11_ASD_discovery_controls-11216.s1
6.4
M
Control (matched sibling)
NA
NA
22242787
22258369
15583
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11235.s1
4.8
M
Control (matched sibling)
NA
NA
20583852
20588017
4166
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11356.s1
9.3
M
Control (matched sibling)
NA
NA
20142212
20300734
158523
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11360.s1
8.4
F
Control (matched sibling)
NA
NA
24304548
24335807
31260
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11475.s1
5.5
F
Control (matched sibling)
NA
NA
22230349
22243718
13370
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11520.s1
10.8
M
Control (matched sibling)
NA
NA
20651291
20807067
155777
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11561.s1
8.9
M
Control (matched sibling)
NA
NA
20583852
20588017
4166
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11590.s1
7.9
F
Control (matched sibling)
NA
NA
20651291
20807067
155777
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11615.s1
10.7
F
Control (matched sibling)
NA
NA
20651291
20818370
167080
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11627.s1
8.2
F
Control (matched sibling)
NA
NA
20651291
20807649
156359
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11711.s1
7
M
Control (matched sibling)
NA
NA
24117919
24120621
2703
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
22723931
22753738
29808
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12224.s1
6
M
Control (matched sibling)
NA
NA
24117919
24122649
4731
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12645.s1
11.3
M
Control (matched sibling)
NA
NA
20651291
20807649
156359
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12838.s1
7.1
F
Control (matched sibling)
NA
NA
24046420
24391229
344810
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12933.s1
7.2
F
Control (matched sibling)
NA
NA
20217070
20303053
85984
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12969.s1
5.8
M
Control (matched sibling)
NA
NA
23629658
23641058
11401
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13168.s1
4.7
F
Control (matched sibling)
NA
NA
20651291
20807649
156359
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13251.s1
6.3
F
Control (matched sibling)
NA
NA
20651291
20818370
167080
GRCh38
Duplication
No
soueid_16_ASD_discovery_controls-control12
N/A
N/A
Control
N/A
N/A
120000
GRCh37
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family7_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant NDD diagnostic subgroup
21765722
21931902
166181
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-case11DG0134
Unknown
Unknown
Unknown
BNIP3P13,BNIP3P15,BNIP3P16,BNIP3P17,BNIP3P18,BNIP3P19,BNIP3P20,MIR1270,ZNF682,ZNF90,ZNF826P,ZNF486,ZNF93
digregorio_17_DD/ID_discovery_cases-DECIPHER_299786
Unknown
VN1R92P,RPS27P29,VN1R93P,BNIP3P39,RPSAP58,ZNF725P,ZNF681,ZNF675
digregorio_17_DD/ID_discovery_cases-DECIPHER_299969
Unknown
ZNF675
digregorio_17_DD/ID_discovery_cases-DECIPHER_300768
Unknown
VN1R92P,RPS27P29,VN1R93P,BNIP3P39,RPSAP58,ZNF725P,ZNF681,ZNF675
digregorio_17_DD/ID_discovery_cases-DECIPHER_301218
Unknown
BNIP3P39,ZNF681,ZNF675
engchuan_15_ASD_discovery_cases-case13217_2393
Unknown
VN1R78P,BNIP3P24,ZNF737,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_cases-case1395_301
Unknown
ZNF85
engchuan_15_ASD_discovery_cases-case14198_3220
Unknown
ZNF92P2,PCGF7P,MTDHP5,ZNF257
engchuan_15_ASD_discovery_cases-case14211_3380
Unknown
BNIP3P10,BNIP3P13,BNIP3P15,BNIP3P16,BNIP3P17,BNIP3P18,BNIP3P19,BNIP3P20,ZNF253,ZNF682,ZNF90,ZNF826P,ZNF486,ZNF93
engchuan_15_ASD_discovery_cases-case14260_3830
Unknown
ZNF92P2,PCGF7P,MTDHP5,ZNF257
engchuan_15_ASD_discovery_cases-case14376_4890
Unknown
BNIP3P8,CDC42EP3P1,VN1R92P,RPS27P29,VN1R93P,LINC01224,ZNF725P,ZNF681,ZNF91,ZNF675
engchuan_15_ASD_discovery_cases-case14418_5270
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_cases-case18188_301
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_cases-case21006_1
Unknown
VN1R92P,RPS27P29,VN1R93P,BNIP3P39,RPSAP58,RNA5-8SP4,BNIP3P40,HAVCR1P1,ZNF725P,ZNF681,ZNF726,ZNF675,ZNF254
engchuan_15_ASD_discovery_cases-case2279_102
Unknown
BNIP3P13,BNIP3P15,BNIP3P16,BNIP3P17,BNIP3P18,ZNF253,ZNF682,ZNF90,ZNF486,ZNF93
engchuan_15_ASD_discovery_cases-case3436_3
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_cases-case4173_1
Unknown
RNA5-8SP4,BNIP3P40,ZNF726,ZNF254
engchuan_15_ASD_discovery_cases-case4441_1
Unknown
engchuan_15_ASD_discovery_cases-case4450_1
Unknown
VN1R92P,RPS27P29,VN1R93P,BNIP3P39,RPSAP58,ZNF725P,ZNF681,ZNF675
engchuan_15_ASD_discovery_cases-case5017_3
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_cases-case5214_3
Unknown
VN1R87P,ZNF99
engchuan_15_ASD_discovery_cases-case5244_3
Unknown
BNIP3P16,BNIP3P17,BNIP3P18,ZNF486
engchuan_15_ASD_discovery_cases-case5297_3
Unknown
VN1R78P,ZNF737,ZNF626
engchuan_15_ASD_discovery_cases-case5323_3
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_cases-case6006_5
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_cases-case6043_4
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_cases-case6278_3
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_cases-case6357_3
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_cases-case8647_201
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
fan_18_DD/ID_discovery_cases-subject3
Unknown
Unknown
BNIP3P22,BNIP3P23,ZNF826P,ZNF737
gai_11_ASD_replication_cases-AU014505
Inherited
ZNF208, ZNF257, ZNF676, ZNF98, ZNF492, ZNF99
gai_11_ASD_replication_cases-AU014506
Inherited
ZNF208, ZNF257, ZNF676, ZNF98, ZNF492, ZNF99
gai_11_ASD_replication_cases-AU0915302
Inherited
ZNF675, ZNF681, RPSAP58
gazzellone_14_ASD_discovery_cases-case537-3
Unknown
Unknown
Unknown
ZNF681
girirajan_13a_ASD_discovery_cases-12224.p1
Unknown
Simplex
Unknown
BNIP3P23,VN1R78P,BNIP3P24,ZNF737,ZNF626,VN1R79P,ZNF66
girirajan_13a_ASD_discovery_cases-AU0915301
Unknown
Multiplex
Unknown
RPS27P29,VN1R93P,BNIP3P39,RPSAP58,ZNF725P,ZNF681,ZNF675
itsara_10_ASD_discovery_cases-HI1617
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
VN1R78P,ZNF737,ZNF626
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003916
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BNIP3P15,BNIP3P16,BNIP3P17,BNIP3P18,BNIP3P19,BNIP3P20,MIR1270,BNIP3P22,BNIP3P23,VN1R78P,BNIP3P24,ZNF90,ZNF826P,ZNF737,ZNF626,VN1R79P,ZNF66,ZNF486
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004170
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MTDHP3,MTDHP4,VN1R84P,BRI3BPP1,BNIP3P27,MTDHP2,BNIP3P28,BNIP3P29,ZNF92P2,PCGF7P,MTDHP5,VN1R85P,BNIP3P30,BNIP3P31,RPL34P34,BNIP3P32,BNIP3P33,ZNF209P,LINC01233,RNU6-1179P,GOLGA2P9,RN7SL860P,LINC01785,ZNF849P,RPL34P33,VN1R87P,BNIP3P34,ZNF43,ZNF208,ZNF257,ZNF676,ZNF729,ZNF492,ZNF99,ZNF100,ZNF98
leblond_12_ASD_replication_cases-Pintocase5237_3
Maternal
BNIP3P23
leppa_16_ASD_discovery_cases-AU01456
Maternal
Multiplex
Not segregated (CNV not present in affected sibling)
MTDHP2,BNIP3P28,BNIP3P29,ZNF92P2,PCGF7P,MTDHP5,VN1R85P,BNIP3P30,BNIP3P31,RPL34P34,BNIP3P32,BNIP3P33,ZNF209P,LINC01233,RNU6-1179P,GOLGA2P9,RN7SL860P,LINC01785,ZNF849P,RPL34P33,VN1R87P,BNIP3P34,BNIP3P35,VN1R88P,ZNF208,ZNF257,ZNF676,ZNF729,ZNF492,ZNF99,ZNF723,ZNF98
leppa_16_ASD_discovery_cases-AU0915302
Maternal
Multiplex
Not segregated (CNV not present in affected sibling)
VN1R92P,RPS27P29,VN1R93P,BNIP3P39,RPSAP58,ZNF725P,ZNF681,ZNF726,ZNF675
leppa_16_ASD_discovery_cases-AU1749302
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
VN1R92P,RPS27P29,VN1R93P,BNIP3P39,RPSAP58,ZNF725P,ZNF681,ZNF726,ZNF675
morrow_08_ASD_discovery_cases-case3601
Maternal
Multiplex
NA
ZNF682
morrow_08_ASD_discovery_cases-case3602
Maternal
Multiplex
NA
ZNF682, ZNF93
mosca_16_DCD_discovery_cases-case103303
Unknown
Unknown
Unknown
BNIP3P16,ZNF486
napoli_17_ASD_discovery_cases-case33
RT-PCR
Maternal
VN1R90P,VN1R91P,BNIP3P8,CDC42EP3P1,VN1R92P,RPS27P29,VN1R93P,BNIP3P39,RPSAP58,IPO5P1,LINC01224,ZNF725P,ZNF681,ZNF91,ZNF675
nava_13_ASD_discovery_cases-Fam1020Proband10760
Paternal
Simplex
Unknown
ZNF681,ZNF675
nava_13_ASD_discovery_cases-Fam1027Proband10761
Unknown
Simplex
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
Paternal
Multi-generational
Unknown
BNIP3P22,BNIP3P23,ZNF826P
pinto_10_ASD_discovery_cases-case5017_3
Agilent1M
paternal
Multiplex
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
pinto_10_ASD_discovery_cases-case5214_3
Agilent1M
paternal
NA
NA
VN1R87P,ZNF99
pinto_10_ASD_discovery_cases-case5297_3
Agilent1M
maternal
NA
NA
VN1R78P,ZNF737,ZNF626
pinto_10_ASD_discovery_cases-case5323_3
Agilent1M
maternal
NA
NA
BNIP3P24,ZNF626,VN1R79P,ZNF66
prasad_12_ASD_discovery_cases-case47838
Unknown
Unknown
Unknown
ZNF429
prasad_12_ASD_discovery_cases-case60965L
Unknown
Unknown
Unknown
ZNF626,ZNF737
prasad_12_ASD_discovery_cases-case68257
Unknown
Unknown
Unknown
ZNF486
prasad_12_ASD_discovery_cases-case89772
Unknown
Unknown
Unknown
ZNF99
prasad_12_ASD_discovery_cases-case94478
Unknown
Simplex
Unknown
ZNF826P,ZNF737,ZNF682,ZNF486,ZNF90,MIR1270-2,MIR1270-1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1055-0
Not tested by qPCR
Unknown
Unknown
Unknown
BNIP3P22,BNIP3P23,ZNF826P,ZNF737
sajan_13_ACC/CBLH/PMG_discovery_cases-case1213-0
Not tested by qPCR
Unknown
Unknown
Unknown
BNIP3P23,ZNF737
sajan_13_ACC/CBLH/PMG_discovery_cases-case1296-0
Not tested by qPCR
Unknown
Unknown
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
sajan_13_ACC/CBLH/PMG_discovery_cases-case1390-0
Not tested by qPCR
Unknown
Unknown
Unknown
BNIP3P22,BNIP3P23,ZNF826P,ZNF737
sajan_13_ACC/CBLH/PMG_discovery_cases-case1392-0
qPCR
Maternal
Unknown
Unknown
VN1R90P,VN1R91P,BNIP3P8,CDC42EP3P1,VN1R92P,RPS27P29,VN1R93P,LINC01224,ZNF725P,ZNF91,ZNF675
sanders_11_ASD_discovery_cases-11129.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11216.p1
Maternal
Simplex (quad-proband matched)
Segregated
ZNF254
sanders_11_ASD_discovery_cases-11220.p1
Paternal
Simplex (quad-proband matched)
Segregated
BNIP3P24,ZNF626,VN1R79P,ZNF66
sanders_11_ASD_discovery_cases-11252.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11290.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF682,ZNF93
sanders_11_ASD_discovery_cases-11356.p1
Paternal
Simplex (quad-proband matched)
Not segregated
BNIP3P16,BNIP3P17,BNIP3P18,ZNF486
sanders_11_ASD_discovery_cases-11464.p1
Paternal
Simplex (trio)
NA
ZNF254
sanders_11_ASD_discovery_cases-11473.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11498.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11910.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11918.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12087.p1
Paternal
Simplex (trio)
NA
VN1R83P,ZNF708
sanders_11_ASD_discovery_cases-12224.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF254
sanders_11_ASD_discovery_cases-12274.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF43
sanders_11_ASD_discovery_cases-12335.p1
Paternal
Simplex (quad-proband matched)
Not segregated
BNIP3P24,ZNF626,VN1R79P,ZNF66
sanders_11_ASD_discovery_cases-12456.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF254
sanders_11_ASD_discovery_cases-12645.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BNIP3P24,ZNF626,VN1R79P,ZNF66
sanders_11_ASD_discovery_cases-12787.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF85
sanders_11_ASD_discovery_cases-12923.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12933.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BNIP3P17,BNIP3P18
sanders_11_ASD_discovery_cases-12939.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF675
sanders_11_ASD_discovery_cases-12998.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13168.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BNIP3P24,ZNF626,VN1R79P,ZNF66
shen_10b_ASD_discovery_cases-caseII:5
Paternal
Simplex
Unknown
0 genes
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Paternal
Simplex (ASD), Multiplex (language delay)
Not segregated
0 genes
soueid_16_ASD_discovery_cases-caseBAK42
Paternal
Simplex
BNIP3P22,BNIP3P23,ZNF826P
soueid_16_ASD_discovery_cases-caseBAK43
Paternal
N/A
BNIP3P22,BNIP3P23,ZNF826P
soueid_16_ASD_discovery_cases-caseBAK44
Paternal
N/A
BNIP3P22,BNIP3P23,ZNF826P
soueid_16_ASD_discovery_cases-caseBAK45
Both parents
Simplex
BNIP3P22,BNIP3P23,ZNF826P
soueid_16_ASD_discovery_cases-caseBAK46
Paternal
N/A
BNIP3P22,BNIP3P23,ZNF826P
stamouli_18_ASD/NDD_discovery_cases-family7_Twin_2
Paternal
Simplex
Not segregated (CNV also present in unaffected twin)
BRI3BPP1,BNIP3P27,ZNF43,ZNF100
tabet_12_ASD_discovery_cases-patient2
Maternal
Multiplex
Unknown
BNIP3P23
yin_16_ASD_discovery_cases-case544
Unknown
Unknown
Unknown
MTDHP2,ZNF208
yin_16_ASD_discovery_cases-case545
Unknown
Unknown
Unknown
MTDHP2,ZNF208
yin_16_ASD_discovery_cases-case546
Unknown
Unknown
Unknown
LINC01858
yin_16_ASD_discovery_cases-case547
Unknown
Unknown
Unknown
ZNF91
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036023307_
Unknown
BNIP3P13,BNIP3P15,BNIP3P16,BNIP3P17,BNIP3P18,ZNF682,ZNF90,ZNF486
engchuan_15_ASD_discovery_controls-controlB224293_1007841226
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlB231021_1007853960
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlB246221_1007853829
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlB267330_1007841417
Unknown
VN1R81P,RPL7AP10,ZNF431,ZNF714
engchuan_15_ASD_discovery_controls-controlB382816_1007872257
Unknown
ZNF92P2,PCGF7P,MTDHP5,VN1R85P,BNIP3P30,ZNF257,ZNF676,ZNF729
engchuan_15_ASD_discovery_controls-controlB402156_0067942641
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlB407698_1007840266
Unknown
VN1R92P,RPS27P29,VN1R93P,BNIP3P39,RPSAP58,ZNF725P,ZNF681,ZNF726,ZNF675
engchuan_15_ASD_discovery_controls-controlB468914_1007854173
Unknown
MTDHP3
engchuan_15_ASD_discovery_controls-controlB476509_1007853948
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlB621318_1007875104
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlB649933_1007874697
Unknown
BNIP3P36,BNIP3P37,SNX6P1,ZNF728,LINC01859,LINC01858,ZNF730,ZNF724
engchuan_15_ASD_discovery_controls-controlB701542_1007873365
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlB752003_1007876006
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlHABC_900049_900049
Unknown
ZNF85
engchuan_15_ASD_discovery_controls-controlHABC_900088_900088
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlHABC_900102_900102
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlHABC_900130_900130
Unknown
VN1R80P,RNA5SP469,VN1R81P,RPL7AP10,ZNF431,ZNF714
engchuan_15_ASD_discovery_controls-controlHABC_900270_900270
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlHABC_900335_900335
Unknown
BNIP3P39,RPSAP58,ZNF681
engchuan_15_ASD_discovery_controls-controlHABC_900466_900466
Unknown
ZNF681
engchuan_15_ASD_discovery_controls-controlHABC_900696_900696
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlHABC_900775_900775
Unknown
ZNF726
engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlHABC_901120_901120
Unknown
BNIP3P24,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlHABC_901122_901122
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlHABC_902569_902569
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
engchuan_15_ASD_discovery_controls-controlHABC_902593_902593
Unknown
BNIP3P24,ZNF626,VN1R79P,ZNF66
leppa_16_ASD_discovery_controls-AU4014303
Maternal
Simplex
BNIP3P13,BNIP3P15,BNIP3P16,BNIP3P17,BNIP3P18,BNIP3P19,BNIP3P20,MIR1270,ZNF682,ZNF90,ZNF826P,ZNF486,ZNF93
nord_11_ASD_discovery_controls-04C27245
0 genes
nord_11_ASD_discovery_controls-04C28227
0 genes
sanders_11_ASD_discovery_controls-11216.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11235.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11356.s1
Paternal
Simplex (quad)
NA
BNIP3P16,BNIP3P17,BNIP3P18,ZNF486
sanders_11_ASD_discovery_controls-11360.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11475.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11520.s1
Paternal
Simplex (quad)
NA
BNIP3P24,ZNF626,VN1R79P,ZNF66
sanders_11_ASD_discovery_controls-11561.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11590.s1
Paternal
Simplex (quad)
NA
BNIP3P24,ZNF626,VN1R79P,ZNF66
sanders_11_ASD_discovery_controls-11615.s1
Paternal
Simplex (quad)
NA
BNIP3P24,ZNF626,VN1R79P,ZNF66
sanders_11_ASD_discovery_controls-11627.s1
Paternal
Simplex (quad)
NA
BNIP3P24,ZNF626,VN1R79P,ZNF66
sanders_11_ASD_discovery_controls-11711.s1
Paternal
Simplex (quad)
NA
ZNF254
sanders_11_ASD_discovery_controls-11794.s1
Unknown
Simplex (quad)
NA
VN1R87P,ZNF99
sanders_11_ASD_discovery_controls-12224.s1
Paternal
Simplex (quad)
NA
ZNF254
sanders_11_ASD_discovery_controls-12645.s1
Maternal
Simplex (quad)
NA
BNIP3P24,ZNF626,VN1R79P,ZNF66
sanders_11_ASD_discovery_controls-12838.s1
Maternal
Simplex (quad)
NA
BNIP3P40,HAVCR1P1,ZNF254
sanders_11_ASD_discovery_controls-12933.s1
Maternal
Simplex (quad)
NA
BNIP3P17,BNIP3P18
sanders_11_ASD_discovery_controls-12969.s1
Both parents
Simplex (quad)
NA
ZNF675
sanders_11_ASD_discovery_controls-13168.s1
Maternal
Simplex (quad)
NA
BNIP3P24,ZNF626,VN1R79P,ZNF66
sanders_11_ASD_discovery_controls-13251.s1
Maternal
Simplex (quad)
NA
BNIP3P24,ZNF626,VN1R79P,ZNF66
soueid_16_ASD_discovery_controls-control12
ZNF826P
stamouli_18_ASD/NDD_discovery_controls-family7_Twin_1
Paternal
Simplex
BRI3BPP1,BNIP3P27,ZNF43,ZNF100
No Animal Model Data Available