12p12.3CNV Type: Deletion-Duplication
Largest CNV size: 109029 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
De novo 11q deletion including SHANK2 in a patient with global developmental delay.
Duplication
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
59829
0
1
1
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
77930
1
0
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
14708
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
119876
3
0
3
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
1560336
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
113568
1
23
24
leblond_19_ASD_discovery_cases
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
36
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
N/A
77.78% Male
49300
0
1
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
41000
3
0
3
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
109978
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
252317
0
1
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
100287
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
77893
0
2
2
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
53623
1
1
2
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
109030
0
2
2
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
109029
12
17
29
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
112000
0
1
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
128351
0
1
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
63550
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
144622
0
1
1
brandler_16_ASD_discovery_controls
Healthy siblings of ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios
26
Control
N/A
N/A
35975
1
0
1
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
35959
1
0
1
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
303952
2
3
5
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
147149
2
15
17
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
196536
1
0
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.
28310
1
0
1
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)
53623
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.
200405
4
15
19
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
63550
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_19_ASD_discovery_cases
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
marcou_17_DD/ID_discovery_cases
N/A
Array SNP
Affymetrix Cytoscan HD
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
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
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
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_16_ASD_discovery_controls
N/A
WGS
Illumina HiSeq
Lumpy, ForestSV
SVtyper, gtCNV
Solid phase hybridization (Illumina 2.5M)
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
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
bacchelli_20_ASD_discovery_cases-caseAB53
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
15849688
15909516
59829
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case68
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
15690763
15768692
77930
GRCh38
Deletion
No
davis_09_ASD_discovery_cases-AU019705
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
16150174
16164882
14708
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1242303
Autism
17377253
17482570
105318
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1393301
Autism
17965970
18085845
119876
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1393306
Autism
17981926
18085845
103920
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005374
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
16019165
17579501
1560337
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11114.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19320561
19369787
49227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11122.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
19322309
19369787
47479
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11215.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19319688
19369787
50100
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11348.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19314503
19369787
55285
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11429.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19320561
19369787
49227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11520.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19320561
19369787
49227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11526.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
14914734
14921048
6315
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12238.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
19319688
19369787
50100
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12323.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19320561
19369787
49227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12345.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19322309
19369787
47479
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12526.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19320561
19369787
49227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12550.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
18496061
18609629
113569
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12619.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19319688
19369787
50100
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12778.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19322309
19369787
47479
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13407.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
19319688
19369787
50100
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13512.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19319688
19369787
50100
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13584.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19319688
19369787
50100
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13730.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19320543
19369792
49250
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13793.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19320561
19369787
49227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13804.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19319988
19369792
49805
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14147.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19319688
19369787
50100
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14229.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19319688
19369787
50100
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14331.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
19320561
19369787
49227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14455.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19320561
19369787
49227
GRCh38
Duplication
Yes
leblond_19_ASD_discovery_cases-casePN400100
N/A
M
ASD
Diagnosis of Asperger syndrome (ADOS=14)
Full-scale IQ 102
19320545
19369844
49300
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-case003a
NA
M
Epilepsy + autistic features
Phenotype: i-CSWSS. Seizure Characteristics: FS, CPS, GTCS. Autistic features: Yes. ADHD features: Yes. Other features: None.
Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 112, performance IQ 114 (at 5 years of age).
17694708
17735370
40663
GRCh38
Deletion
No
lesca_12_EP_discovery_cases-case12-522
NA
M
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: Absences, PS with dysarthria. Autistic features: No. ADHD features: No. Other features: None.
Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 112, performance IQ 107 (at 12 years of age).
17694708
17735370
40663
GRCh38
Deletion
No
lesca_12_EP_discovery_cases-case16-1514
NA
F
Epilepsy
Phenotype: LKS-wiESES. Seizure Characteristics: Awake and nocturnal GTCS . Autistic features: No. ADHD features: Yes. Other features: mutism.
Initial cognitive development: Normal. Cognitive regression: Yes. Performance IQ 92 (at 7 years of age).
17694708
17735370
40663
GRCh38
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.
19314224
19424201
109978
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case126903
N/A
M
DCD/ADHD
Ancestry: European. Family history: maternal diagnosis ADHD and reading disorder; paternal diagnosis unaffected; sibling diagnosis ADHD and reading disorder (positive for CNV).
15456143
15708459
252317
GRCh38
Duplication
Yes
o'roak_12_ASD_discovery_cases-case13793.p1
NA
M
ASD/Autism
Case also identified with de novo PCDHB4 and SBF1 missense mutations. No additional clinical info available.
Low IQ. Non verbal IQ, 56
19317259
19417546
100288
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case03HI2580A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0924301; NDAR ID NDAR_INVCE056PE7)
14917176
14981478
64303
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
15580695
15658587
77893
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case121571
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
16896828
16921296
24469
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case85274L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
17064769
17118391
53623
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1351-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
19316144
19425173
109030
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-323
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
19375704
19411788
36085
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
15414989
15419670
4682
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11086.p1
7.4
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
15414989
15419670
4682
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
17829381
17832067
2687
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11114.p1
8.8
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
19316144
19420716
104573
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11122.p1
7.8
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
19331742
19420716
88975
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11189.p1
14.5
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 77; verbal IQ, 37
19316144
19425173
109030
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11215.p1
9.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 114; verbal IQ, 80
19316144
19425173
109030
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11346.p1
11
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 132; verbal IQ, 121
15703351
15707009
3659
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11348.p1
7.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 64
19319901
19420716
100816
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11350.p1
9.1
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 92; verbal IQ, 93
16750700
16751527
828
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11356.p1
11.5
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
18982008
18996774
14767
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11371.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
15414989
15419670
4682
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11371.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
18233857
18240578
6722
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11429.p1
11.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
19316144
19425173
109030
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11520.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 77; verbal IQ, 57
19319901
19408609
88709
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
14911061
14921379
10319
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11718.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
19316144
19389229
73086
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
17438369
17445037
6669
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11969.p1
14.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
19370129
19415464
45336
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
15861668
15895275
33608
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12238.p1
8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ, 84
19316144
19425173
109030
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12323.p1
10.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 92
19319901
19425173
105273
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12345.p1
11.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
19316144
19425173
109030
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
15703351
15707009
3659
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12566.p1
10.4
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 43
19316144
19376134
59991
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12619.p1
7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
19316144
19425173
109030
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12933.p1
10
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 41; verbal IQ, 44
16132604
16211950
79347
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13216.p1
4.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93
19319901
19415464
95564
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13388.p1
5.4
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 81; verbal IQ, 113
19316144
19425173
109030
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseLAS6
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
19315135
19427444
112310
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family48_Twin_2
N/A
N/A
NDD
Case is from a monozygotic twin pair from the Discordant NDD diagnostic group
19316386
19444736
128351
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case434
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
19215242
19278791
63550
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
bacchelli_20_ASD_discovery_controls-control20081
N/A
M
Control
Control
15526264
15670885
144622
GRCh38
Duplication
No
brandler_16_ASD_discovery_controls_controlREACH000076
N/A
F
Control
Control; healthy sibling of ASD proband
19104965
19140940
35976
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_controls-controlREACH000076
N/A
F
Control
Control from REACH cohort
19104985
19140944
35960
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB266791_1007871681
N/A
N/A
Control
No previous psychiatric history
16456104
16557871
101768
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB359435_1007843544
N/A
N/A
Control
No previous psychiatric history
18157060
18461012
303953
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB724913_1007872636
N/A
N/A
Control
No previous psychiatric history
18072810
18163015
90206
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901107_901107
N/A
N/A
Control
No previous psychiatric history
18137709
18268141
130433
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901113_901113
N/A
N/A
Control
No previous psychiatric history
15596958
15809832
212875
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11008.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19320561
19369787
49227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11194.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19320561
19462717
142157
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11215.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19319688
19369787
50100
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11282.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19322309
19369787
47479
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11304.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19320561
19462717
142157
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11484.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19320561
19369787
49227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11797.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19320561
19369787
49227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12219.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19320561
19369787
49227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12255.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19320561
19369787
49227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12329.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
16216892
16364041
147150
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12526.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19322309
19369787
47479
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12550.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
18488448
18609629
121182
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12619.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19319688
19369787
50100
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13804.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19319988
19369792
49805
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13980.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19322309
19369787
47479
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14127.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19320561
19369787
49227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14229.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19319688
19369787
50100
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-12329.s1
NA
M
Control
NA
NA
16195701
16392236
196536
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C26602
Control
16257322
16285631
28310
Unknown
Deletion
sanders_11_ASD_discovery_controls-11008.s1
26.3
M
Control (matched sibling)
NA
NA
19316144
19425173
109030
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
15881144
15895275
14132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11124.s1
13.3
M
Control (matched sibling)
NA
NA
15784945
15839699
54755
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11194.s1
10.7
M
Control (matched sibling)
NA
NA
19314022
19408609
94588
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11282.s1
8.8
M
Control (matched sibling)
NA
NA
19309335
19425173
115839
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11304.s1
8.3
F
Control (matched sibling)
NA
NA
19314022
19425173
111152
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11346.s1
12.9
M
Control (matched sibling)
NA
NA
15703351
15707009
3659
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11414.s1
14.8
F
Control (matched sibling)
NA
NA
19316144
19425173
109030
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11484.s1
14.4
M
Control (matched sibling)
NA
NA
19316144
19425173
109030
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11797.s1
12.2
F
Control (matched sibling)
NA
NA
19316144
19425173
109030
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11969.s1
17.5
M
Control (matched sibling)
NA
NA
19319901
19425173
105273
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12053.s1
7.1
F
Control (matched sibling)
NA
NA
19316144
19425173
109030
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12219.s1
11.4
F
Control (matched sibling)
NA
NA
19314022
19389229
75208
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12255.s1
14.6
M
Control (matched sibling)
NA
NA
19366199
19420716
54518
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12329.s1
6.3
M
Control (matched sibling)
NA
NA
16197873
16398278
200406
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12541.s1
8.3
M
Control (matched sibling)
NA
NA
19316144
19425173
109030
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12619.s1
4.7
M
Control (matched sibling)
NA
NA
19319901
19425173
105273
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12933.s1
7.2
F
Control (matched sibling)
NA
NA
16132604
16198677
66074
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13216.s1
6
M
Control (matched sibling)
NA
NA
19316144
19415464
99321
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_cases-caseAB53
Paternal
Simplex
STRAP,EPS8
chehbani_22_ASD_discovery_cases-case68
Unknown
Simplex
EPS8
davis_09_ASD_discovery_cases-AU019705
Unknown
Unknown
Unknown
0 genes
gai_11_ASD_discovery_cases-AU1242303
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1393301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1393306
Inherited
0 genes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005374
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
EEF1A1P16,RNU6-837P,RPL7P40,TIMM17BP1,SUPT16HP1,LMO3,PSMC1P8,DERA,SLC15A5,MGST1,LINC02378
krumm_15_ASD_discovery_cases-case11114.p1
Illumina 1M
Maternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case11122.p1
Illumina 1M
Maternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case11215.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PLEKHA5
krumm_15_ASD_discovery_cases-case11348.p1
Illumina 1M
Maternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case11429.p1
Illumina 1M
Paternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case11520.p1
Illumina 1M
Paternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case11526.p1
Illumina 1M
Maternal
Simplex
Segregated
ERP27
krumm_15_ASD_discovery_cases-case12238.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case12323.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case12345.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case12526.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
PLEKHA5
krumm_15_ASD_discovery_cases-case12550.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
PIK3C2G
krumm_15_ASD_discovery_cases-case12619.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
PLEKHA5
krumm_15_ASD_discovery_cases-case12778.p1
1M-Duov3
Paternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case13407.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case13512.p1
1M-Duov3
Paternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case13584.p1
1M-Duov3
Maternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case13730.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case13793.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case13804.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
PLEKHA5
krumm_15_ASD_discovery_cases-case14147.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case14229.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PLEKHA5
krumm_15_ASD_discovery_cases-case14331.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
PLEKHA5
krumm_15_ASD_discovery_cases-case14455.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
PLEKHA5
leblond_19_ASD_discovery_cases-casePN400100
Unknown
Simplex
Unknown
PLEKHA5
lesca_12_EP_discovery_cases-case003a
Unknown
Unknown
Unknown
lesca_12_EP_discovery_cases-case12-522
Unknown
Unknown
Unknown
lesca_12_EP_discovery_cases-case16-1514
Unknown
Unknown
Unknown
marcou_17_DD/ID_discovery_cases-case1
Unknown
Simplex
Unknown
PDCD5P1,PLEKHA5,AEBP2
mosca_16_DCD_discovery_cases-case126903
qPCR
Maternal
Multi-generational
Segregated
RNU6-251P,PTPRO,EPS8
o'roak_12_ASD_discovery_cases-case13793.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
PDCD5P1,PLEKHA5,AEBP2
poultney_13_ASD_discovery_cases-case03HI2580A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ERP27,PDE6H,ARHGDIB
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PTPRO,EPS8
prasad_12_ASD_discovery_cases-case121571
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case85274L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1351-0
Not tested by qPCR
Unknown
Unknown
Unknown
PDCD5P1,PLEKHA5,AEBP2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-323
Not tested by qPCR
Unknown
Unknown
Unknown
PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-11041.p1
Both parents
Simplex (quad-proband matched)
Segregated
PTPRO
sanders_11_ASD_discovery_cases-11086.p1
Maternal
Simplex (quad-proband matched)
Segregated
PTPRO
sanders_11_ASD_discovery_cases-11108.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11114.p1
Maternal
Simplex (quad-proband matched)
Segregated
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-11122.p1
Maternal
Simplex (trio)
NA
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-11189.p1
Both parents
Simplex (quad-proband matched)
Segregated
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-11215.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-11346.p1
Maternal
Simplex (quad-proband matched)
Not segregated
EPS8
sanders_11_ASD_discovery_cases-11348.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-11350.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11356.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11371.p1
Maternal
Simplex (trio)
NA
PTPRO
sanders_11_ASD_discovery_cases-11371.p1
Maternal
Simplex (trio)
NA
RERGL
sanders_11_ASD_discovery_cases-11429.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-11520.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-11526.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ERP27
sanders_11_ASD_discovery_cases-11718.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PLEKHA5
sanders_11_ASD_discovery_cases-11846.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11969.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-12102.p1
Unknown
Simplex (trio)
NA
STRAP,EPS8
sanders_11_ASD_discovery_cases-12238.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-12323.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-12345.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-12424.p1
Maternal
Simplex (quad-proband matched)
Not segregated
EPS8
sanders_11_ASD_discovery_cases-12566.p1
Paternal
Simplex (trio)
NA
PLEKHA5
sanders_11_ASD_discovery_cases-12619.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-12933.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC15A5
sanders_11_ASD_discovery_cases-13216.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_cases-13388.p1
Both parents
Simplex (trio)
NA
PDCD5P1,PLEKHA5,AEBP2
soueid_16_ASD_discovery_cases-caseLAS6
De novo
Simplex
PDCD5P1,PLEKHA5,AEBP2
stamouli_18_ASD/NDD_discovery_cases-family48_Twin_2
Unknown
Simplex
Segregated (CNV not present in unaffected twin)
PDCD5P1,PLEKHA5,AEBP2
yin_16_ASD_discovery_cases-case434
Unknown
Unknown
Unknown
PLEKHA5
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20081
Unknown
PTPRO,EPS8
brandler_16_ASD_discovery_controls_controlREACH000076
Solid phase hybridization (Illumina 2.5M)
De novo
MEF2BNBP1,PLEKHA5
brandler_18_ASD_discovery_controls-controlREACH000076
PCR or SNP data validation (SNP VCF)
De novo
MEF2BNBP1,PLEKHA5
engchuan_15_ASD_discovery_controls-controlB266791_1007871681
Unknown
LMO3,MGST1
engchuan_15_ASD_discovery_controls-controlB359435_1007843544
Unknown
NDFIP1P1,RERGL,PIK3C2G
engchuan_15_ASD_discovery_controls-controlB724913_1007872636
Unknown
RERGL
engchuan_15_ASD_discovery_controls-controlHABC_901107_901107
Unknown
RERGL,PIK3C2G
engchuan_15_ASD_discovery_controls-controlHABC_901113_901113
Unknown
RNU6-251P,PTPRO,EPS8
krumm_15_ASD_discovery_controls-control11008.s1
Illumina 1M
Paternal
PLEKHA5
krumm_15_ASD_discovery_controls-control11194.s1
Illumina 1M
Maternal
PDCD5P1,RNU6-254P,EEF1A1P4,PLEKHA5,AEBP2
krumm_15_ASD_discovery_controls-control11215.s1
Illumina 1M
Maternal
PLEKHA5
krumm_15_ASD_discovery_controls-control11282.s1
Illumina 1M
Maternal
PLEKHA5
krumm_15_ASD_discovery_controls-control11304.s1
Illumina 1M
Maternal
PDCD5P1,RNU6-254P,EEF1A1P4,PLEKHA5,AEBP2
krumm_15_ASD_discovery_controls-control11484.s1
Illumina 1M
Paternal
PLEKHA5
krumm_15_ASD_discovery_controls-control11797.s1
Illumina 1MDuo
Maternal
PLEKHA5
krumm_15_ASD_discovery_controls-control12219.s1
Illumina 1MDuo
Paternal
PLEKHA5
krumm_15_ASD_discovery_controls-control12255.s1
Illumina 1MDuo
Paternal
PLEKHA5
krumm_15_ASD_discovery_controls-control12329.s1
Illumina 1MDuo
Paternal
SLC15A5,MGST1
krumm_15_ASD_discovery_controls-control12526.s1
1M-Duov3
Paternal
PLEKHA5
krumm_15_ASD_discovery_controls-control12550.s1
1M-Duov3
Paternal
ZKSCAN7P1,PIK3C2G
krumm_15_ASD_discovery_controls-control12619.s1
Illumina 1MDuo
Paternal
PLEKHA5
krumm_15_ASD_discovery_controls-control13804.s1
Omni2.5-4v1
Paternal
PLEKHA5
krumm_15_ASD_discovery_controls-control13980.s1
Omni2.5-4v1
Paternal
PLEKHA5
krumm_15_ASD_discovery_controls-control14127.s1
Omni2.5-4v1
Paternal
PLEKHA5
krumm_15_ASD_discovery_controls-control14229.s1
Omni2.5-4v1
Maternal
PLEKHA5
levy_11_ASD_discovery_controls-12329.s1
Paternal
Simplex
NA
SLC15A5,MGST1
nord_11_ASD_discovery_controls-04C26602
SLC15A5
sanders_11_ASD_discovery_controls-11008.s1
Paternal
Simplex (quad)
NA
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_controls-11033.s1
Unknown
Simplex (quad)
NA
STRAP,EPS8
sanders_11_ASD_discovery_controls-11124.s1
Paternal
Simplex (quad)
NA
EPS8
sanders_11_ASD_discovery_controls-11194.s1
Maternal
Simplex (quad)
NA
PLEKHA5,AEBP2
sanders_11_ASD_discovery_controls-11282.s1
Maternal
Simplex (quad)
NA
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_controls-11304.s1
Maternal
Simplex (quad)
NA
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_controls-11346.s1
Maternal
Simplex (quad)
NA
EPS8
sanders_11_ASD_discovery_controls-11414.s1
Maternal
Simplex (quad)
NA
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_controls-11484.s1
Paternal
Simplex (quad)
NA
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_controls-11797.s1
Maternal
Simplex (quad)
NA
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_controls-11969.s1
Maternal
Simplex (quad)
NA
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_controls-12053.s1
Maternal
Simplex (quad)
NA
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_controls-12219.s1
Paternal
Simplex (quad)
NA
PLEKHA5
sanders_11_ASD_discovery_controls-12255.s1
Paternal
Simplex (quad)
NA
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_controls-12329.s1
Paternal
Simplex (quad)
NA
SLC15A5,MGST1
sanders_11_ASD_discovery_controls-12541.s1
Maternal
Simplex (quad)
NA
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_controls-12619.s1
Paternal
Simplex (quad)
NA
PDCD5P1,PLEKHA5,AEBP2
sanders_11_ASD_discovery_controls-12933.s1
Maternal
Simplex (quad)
NA
SLC15A5
sanders_11_ASD_discovery_controls-13216.s1
Paternal
Simplex (quad)
NA
PDCD5P1,PLEKHA5,AEBP2
No Animal Model Data Available