9q32CNV Type: Deletion-Duplication
Largest CNV size: 211378 bp
Statistics Box:
Number of Reports: 21
Number of Reports: 21
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
De novo 11q deletion including SHANK2 in a patient with global developmental delay.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
addis_15_ASD_replication_cases
ASD cases from the Autism Genome Project and two Canadian ASD cohorts
2846
All cases with a clinical diagnosis of ASD (ADI-R and/or ADOS)
N/A
N/A
501368
0
1
1
brand_15_ASD_discovery_cases
ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
259
Diagnosis of ASD
N/A
N/A
58639
0
3
3
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
1056000
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
230000
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
358055
2
6
8
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
184091
0
1
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
32825
2
0
2
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
193545
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
666668
0
5
5
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
172166
2
2
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
172166
8
4
12
laffin_12_CAS_discovery_cases
Participants recruited and consented for a study of pediatric motor speech disorders
24
Diagnosis of childhood apraxia of speech (CAS) assessed by Madison Speech Assessment Protocol.
Mean, 8.3 3.7 yrs.
66% Male
70554
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
211378
0
1
1
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
75894
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
83546
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
76640
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
57406
1
2
3
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
67443
2
4
6
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
185667
0
3
3
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
208087
9
47
56
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
1055621
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
addis_15_ASD_replication_controls
Controls from the Ottawa Heart Institute (n=1234), POPGEN (N=1123), the Ontario Population Genomics Platform (n=416), HapMap3 (n=1056), and the Autism Genome Poject (n=2640)
6469
Control
N/A
N/A
N/A
N/A
N/A
N/A
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
0
0
0
0
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
509932
3
5
8
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
7774
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
57427
7
4
11
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
70306
1
0
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
338372
2
2
4
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)
67443
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.
72552
10
28
38
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
1055621
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
addis_15_ASD_replication_cases
Europe and Canada
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
PennCNV, iPattern, QuantiSNP, Birdsuite, iPattern, Affymetrix Genotyping Console
qPCR, another method
brand_15_ASD_discovery_cases
N/A
Long-insert WGS
Long-insert whole genome sequencing
LUMPY, cn.MOPS, SV classifier
None
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
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
gai_11_ASD_discovery_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
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
laffin_12_CAS_discovery_cases
NA
aCGH
Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
OGT CytoSure Interpret v.3.4.3
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
marcou_17_DD/ID_discovery_cases
N/A
Array SNP
Affymetrix Cytoscan HD
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
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)
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
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
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
addis_15_ASD_replication_controls
Primarily European and Canadian
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M
PennCNV, iPattern, QuantiSNP, Birdsuite, iPattern, Affymetrix Genotyping Console
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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
addis_15_ASD_replication_cases-case8596_201
N/A
M
ASD
Strict autism, high functioning; no seizures, verbal, language delay; delayed first words (at 25 months); typical first phrases (at 25 months)
Verbal IQ>71
113231983
113733351
501369
GRCh38
Duplication
Yes
brand_15_ASD_discovery_cases-case3
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 9 in this case. Duplication not previously identified by aCGH.
114106453
114106491
39
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case3
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 9 in this case. Duplication previously identified by aCGH (chr9:116826842-116867054; hg19)
114053312
114106457
53146
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case3
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 9 in this case. Duplication previously identified by aCGH (chr9:117047121-117103973; hg19)
114284714
114343353
58640
GRCh38
Duplication
No
chen_17_ASD_discovery_cases-caseU-1269
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 12 (past score 24); Qualitative abnormalities in verbal and nonverbal communication, current score 11 (past score 20); Qualitative abnormalities in nonverbal communication, current score 6 (past score 12); Restricted, repetitive, and stereotyped patterns of behaviour, current score 2 (past score 10); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 84; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 6. Epilepsy: no history of epilepsy.
Performance IQ 100, Verbal IQ 107, Full-scale IQ 105
113552638
114608258
1055621
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300134
N/A
F
Developmental delay/intellectual disability
112617226
112847132
229907
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3171_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
113098921
113211999
113079
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5261_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
112949788
113026427
76640
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6362_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
112392984
112454041
61058
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6416_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114284841
114341693
56853
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8571_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114192162
114321948
129787
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8571_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114336370
114693895
357526
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8596_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114192162
114321948
129787
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8596_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114335475
114693530
358056
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1708302
Autism
114666833
114850923
184091
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case628-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
112951723
112984548
32826
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case691-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
112951723
112984548
32826
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case28
2 yrs. 2 mos.
M
Intellectual disability
Microcephaly, seizures, hypertelorism, single transverse palmar crease, syndactyly, congenital heart defect, Hirschsprung disease
Intellectual disability, severe developmental and cognitive delay
112997833
113191378
193546
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002687
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
114270395
114677524
407130
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002688
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
114270395
114677524
407130
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004552
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
113058848
113725516
666669
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004677
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
114246876
114637081
390206
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005020
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
114246876
114637081
390206
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12507.p1
N/A
M
ASD
ASD proband from SSC quad family 12507. SRS score of 89.
Full-scale IQ (FSIQ) score of 80.
113049361
113049872
512
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13296.p1
N/A
M
ASD
ASD proband from SSC quad family 13296. SRS score of 87.
Full-scale IQ (FSIQ) score of 30.
112645649
112817815
172167
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13629.p1
N/A
M
ASD
ASD proband from SSC quad family 13629. SRS score of 82.
Full-scale IQ (FSIQ) score of 52.
113360506
113370142
9637
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13793.p1
N/A
M
ASD
ASD proband from SSC quad family 13793. SRS score of 87.
Full-scale IQ (FSIQ) score of 52.
113049361
113056688
7328
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11331.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
114060238
114097702
37465
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11552.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113360506
113374354
13849
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11568.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
112645649
112817815
172167
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11982.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113049361
113056688
7328
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12507.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113049361
113056688
7328
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12796.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113049361
113056688
7328
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13629.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113360506
113374356
13851
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13635.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
113049361
113056690
7330
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13793.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113049361
113056688
7328
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13934.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
114423313
114426413
3101
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13977.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113049361
113056688
7328
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14086.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113049361
113056688
7328
GRCh38
Deletion
Yes
laffin_12_CAS_discovery_cases-case9
10-15 yrs.
NA
CAS
Years of apraxia treatment: 8. Familial status: positive (one or more nuclear family members with a verbal trait disorder including speech disorder, language disorder, reading disorder, cognitive disability, or learning disability). Language impairment: impairments in language onset, comprehension, and expression. Motor impairment: impairments in gross motor and oral-nonverbal motor assessment tasks.
Cognitive impairment
112984671
113055225
70555
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11568.p1
NA
F
ASD
NA
NA
112617446
112828823
211378
GRCh38
Duplication
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.
112951722
113027615
75894
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-NA0066-000
NA
M
ASD
NA
NA
116686951
116770496
83546
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5261_4
NA
F
Autism
Below average language (4%ile), no epilepsy, no dysmorphic features; 22q11 duplication syndrome
Above average nonverbal IQ (96%ile)
112949788
113026427
76640
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI4105A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1559303; NDAR ID NDAR_INVKK674DU9)
113049360
113056690
7331
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0355A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU022705; NDAR ID NDAR_INVEC283FH9)
114060237
114097704
37468
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0355A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU022705; NDAR ID NDAR_INVEC283FH9)
114284722
114342127
57406
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case125391
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
115858389
115903954
45566
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case45549
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
114851234
114861149
9916
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case46407
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
114756141
114823583
67443
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59273L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
116251441
116277904
26464
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case74431
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
114922317
114945262
22946
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case90651
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
115858389
115903954
45566
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-180
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
114053497
114104774
51278
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-180
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
114287611
114341693
54083
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-177a2
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
112641305
112826971
185667
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11087.p1
6.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 86; verbal IQ 99
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11117.p1
9.3
F
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 119; verbal IQ, 119
113090435
113112714
22280
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11124.p1
11.1
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
113356672
113375733
19062
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11331.p1
5.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
114053497
114104774
51278
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11331.p1
5.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
114284841
114346691
61851
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11552.p1
9.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 92
113356672
113375733
19062
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11568.p1
13.5
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28
112618884
112826971
208088
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11609.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
114321948
114325784
3837
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11612.p1
10.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 90; verbal IQ, 79
114321948
114325784
3837
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11627.p1
5.7
M
ASD
NA
Full-scale IQ, 92; non-verbal IQ, 100; verbal IQ, 83
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11634.p1
5.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 56; verbal IQ, 63
114323095
114325784
2690
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11660.p1
5
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 63
114323095
114325784
2690
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11681.p1
5.1
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11691.p1
14.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11782.p1
5.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11808.p1
8.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
114323095
114325155
2061
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11857.p1
6.7
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 101; verbal IQ, 96
114323095
114325784
2690
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
114321948
114325784
3837
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11935.p1
5.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11962.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
114323095
114325784
2690
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11962.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
114330749
114330830
82
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12036.p1
9.6
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 54; verbal IQ, 48
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12056.p1
11
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 92; verbal IQ, 124
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12101.p1
5.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 38
114323946
114325155
1210
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12121.p1
8.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
112379553
112382642
3090
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12157.p1
14.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 93
114323095
114325155
2061
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12320.p1
8.5
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12329.p1
8.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 82
114321948
114325155
3208
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
114833403
114835605
2203
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12480.p1
13.1
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
114323095
114325784
2690
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12494.p1
7.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
114323095
114325155
2061
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12497.p1
4.6
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 63; verbal IQ, 49
114323946
114331932
7987
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12507.p1
18
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 73; verbal IQ, 100
113048822
113059574
10753
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12512.p1
8.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 82; verbal IQ, 95
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12532.p1
11.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 135
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12543.p1
8.9
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 67
114321948
114325784
3837
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12595.p1
4
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 122; verbal IQ, 108
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12605.p1
16.3
M
Autism
NA
Full-scale IQ, 120; non-verbal IQ, 108; verbal IQ, 136
114323095
114325784
2690
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12650.p1
6.4
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 100; verbal IQ, 109
114323095
114325784
2690
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12754.p1
7.9
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 125; verbal IQ, 115
112467413
112478453
11041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12786.p1
7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 87
114323095
114325784
2690
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12957.p1
9.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
114321948
114325784
3837
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12979.p1
4.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 68; verbal IQ, 65
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12989.p1
7.1
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13005.p1
4.4
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 116; verbal IQ, 114
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13018.p1
12.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
114323095
114325784
2690
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13021.p1
12.3
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13051.p1
6.9
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 104
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13088.p1
6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 67
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13218.p1
6.9
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 98; verbal IQ, 93
114323095
114325155
2061
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13294.p1
5.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
112618884
112826971
208088
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
113096943
113104996
8054
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13322.p1
16.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
114323095
114325155
2061
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13367.p1
9.7
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
114849606
114865289
15684
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case371
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
112973631
113058274
84644
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case372
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
113552638
114608258
1055621
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036022291_
N/A
N/A
Control
No previous psychiatric history
113346815
113377555
30741
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB348917_1007843543
N/A
N/A
Control
No previous psychiatric history
114059246
114104774
45529
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB348917_1007843543
N/A
N/A
Control
No previous psychiatric history
114283305
114341693
58389
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB377265_1007853663
N/A
N/A
Control
No previous psychiatric history
114192162
114702094
509933
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB534933_1007874890
N/A
N/A
Control
No previous psychiatric history
114192162
114693895
501734
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB754328_1007852652
N/A
N/A
Control
No previous psychiatric history
112953875
113021309
67435
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900147_900147
N/A
N/A
Control
No previous psychiatric history
112942621
113021309
78689
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902675_902675
N/A
N/A
Control
No previous psychiatric history
112953875
113021309
67435
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control12507.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12507. SRS score N/A.
113049361
113056688
7328
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13629.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13629. SRS score of 44.
113362368
113370142
7775
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11552.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113360506
113374354
13849
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11982.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113049361
113056688
7328
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12507.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113049361
113056688
7328
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12592.s2
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113049361
113056688
7328
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12657.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113360506
113374354
13849
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13042.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
114060924
114097702
36779
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13042.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
114284700
114342127
57428
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13518.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113049361
113056688
7328
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13934.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
114423313
114426413
3101
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13977.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113049361
113056688
7328
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14086.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113049361
113056690
7330
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11494.s1
NA
M
Control
NA
NA
112953912
113024217
70306
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C28060A
N/A
F
Control
NIMH Control (NIMH ID 40578)
113049360
113056690
7331
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C31170A
N/A
F
Control
NIMH Control (NIMH ID 59702)
112836212
113174583
338372
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C39035A
N/A
F
Control
NIMH Control (NIMH ID 47938)
113049360
113056690
7331
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C40316A
N/A
M
Control
NIMH Control (NIMH ID 32109)
114323132
114331931
8800
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11093.s1
9.8
M
Control (matched sibling)
NA
NA
113090435
113112714
22280
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11117.s1
7.1
F
Control (matched sibling)
NA
NA
113090435
113112714
22280
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11196.s1
10
M
Control (matched sibling)
NA
NA
113090435
113112714
22280
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11234.s1
7.5
F
Control (matched sibling)
NA
NA
113090435
113112714
22280
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11494.s1
19.3
M
Control (matched sibling)
NA
NA
112953875
113026427
72553
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11552.s1
6
F
Control (matched sibling)
NA
NA
113359240
113375733
16494
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11638.s1
14.4
M
Control (matched sibling)
NA
NA
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11935.s1
6.2
M
Control (matched sibling)
NA
NA
114321948
114325784
3837
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
114833403
114835605
2203
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11947.s1
14.5
M
Control (matched sibling)
NA
NA
114323095
114325155
2061
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11962.s1
7.8
M
Control (matched sibling)
NA
NA
114323095
114325784
2690
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11982.s1
5.1
F
Control (matched sibling)
NA
NA
113048822
113059574
10753
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12036.s1
5.9
F
Control (matched sibling)
NA
NA
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12044.s1
8.8
M
Control (matched sibling)
NA
NA
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12086.s1
25.2
M
Control (matched sibling)
NA
NA
114321948
114325784
3837
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12121.s1
6.5
F
Control (matched sibling)
NA
NA
112379553
112382642
3090
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12202.s1
8
M
Control (matched sibling)
NA
NA
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12228.s1
8.8
F
Control (matched sibling)
NA
NA
114323095
114325155
2061
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12271.s1
9.1
M
Control (matched sibling)
NA
NA
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12296.s1
13.9
M
Control (matched sibling)
NA
NA
114323095
114325784
2690
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12329.s1
6.3
M
Control (matched sibling)
NA
NA
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12369.s1
4.2
F
Control (matched sibling)
NA
NA
114323946
114325155
1210
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12438.s1
6.4
M
Control (matched sibling)
NA
NA
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12507.s1
26.1
F
Control (matched sibling)
NA
NA
113048822
113059574
10753
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12605.s1
13.3
M
Control (matched sibling)
NA
NA
114323095
114325784
2690
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12644.s1
8.1
M
Control (matched sibling)
NA
NA
114323946
114325784
1839
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12650.s1
4.7
F
Control (matched sibling)
NA
NA
114323991
114325155
1165
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12657.s1
10.8
F
Control (matched sibling)
NA
NA
113356672
113375733
19062
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12664.s1
7.9
M
Control (matched sibling)
NA
NA
114323095
114325155
2061
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12667.s1
19.3
M
Control (matched sibling)
NA
NA
114321948
114325784
3837
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12722.s1
6.8
M
Control (matched sibling)
NA
NA
114323095
114325155
2061
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12780.s1
5.9
M
Control (matched sibling)
NA
NA
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12852.s1
6.3
M
Control (matched sibling)
NA
NA
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12957.s1
13.3
F
Control (matched sibling)
NA
NA
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13005.s1
6.8
F
Control (matched sibling)
NA
NA
114321948
114325155
3208
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13042.s1
4.2
F
Control (matched sibling)
NA
NA
114077924
114104774
26851
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13042.s1
4.2
F
Control (matched sibling)
NA
NA
114285608
114323095
37488
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13089.s1
11.1
F
Control (matched sibling)
NA
NA
114323095
114325155
2061
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
addis_15_ASD_replication_cases-case8596_201
qPCR or another method
Maternal
Unknown
Unknown
RNF183,HDHD3,CDC26,PRPF4,WDR31,BSPRY,ALAD,POLE3,C9orf43,RGS3,SLC31A1
brand_15_ASD_discovery_cases-case3
Paternal
Simplex
Unknown
brand_15_ASD_discovery_cases-case3
Paternal
Simplex
Unknown
AMBP,KIF12,ZNF618
brand_15_ASD_discovery_cases-case3
Paternal
Simplex
Unknown
ORM1,ORM2,AKNA,COL27A1
chen_17_ASD_discovery_cases-caseU-1269
RT-qPCR
De novo
MIR455,ORM1,ORM2,AMBP,KIF12,AKNA,ATP6V1G1,RGS3,ZNF618,WHRN,COL27A1
digregorio_17_DD/ID_discovery_cases-DECIPHER_300134
Maternal
INIP,KIAA1958,SNX30
engchuan_15_ASD_discovery_cases-case3171_3
Unknown
FAM225B,SLC31A2,FKBP15,FAM225A
engchuan_15_ASD_discovery_cases-case5261_4
Unknown
MUPP,ZNF883
engchuan_15_ASD_discovery_cases-case6362_3
Unknown
HSDL2,C9orf147
engchuan_15_ASD_discovery_cases-case6416_3
Unknown
ORM1,ORM2,AKNA,COL27A1
engchuan_15_ASD_discovery_cases-case8571_201
Unknown
MIR455,COL27A1
engchuan_15_ASD_discovery_cases-case8571_201
Unknown
TEX53,AKNA,ATP6V1G1,TMEM268,TEX48,WHRN
engchuan_15_ASD_discovery_cases-case8596_201
Unknown
MIR455,COL27A1
engchuan_15_ASD_discovery_cases-case8596_201
Unknown
TEX53,AKNA,ATP6V1G1,TMEM268,TEX48,WHRN
gai_11_ASD_discovery_cases-AU1708302
Inherited
SNX30, SLC46A2, LOC169834, ZFP37
gazzellone_14_ASD_discovery_cases-case628-3
Unknown
Unknown
Unknown
MUPP
gazzellone_14_ASD_discovery_cases-case691-3
Unknown
Unknown
Unknown
MUPP
iourov_12_ASD/ID/EP_discovery_cases-case28
Unknown
Unknown
Unknown
FAM225B,SLC31A2,ZNF883,ZFP37,FKBP15,FAM225A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002687
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ORM1,ORM2,TEX53,AKNA,ATP6V1G1,TMEM268,TEX48,WHRN,COL27A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002688
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ORM1,ORM2,TEX53,AKNA,ATP6V1G1,TMEM268,TEX48,WHRN,COL27A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004552
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FAM225B,SLC31A2,RNF183,HDHD3,FKBP15,CDC26,PRPF4,WDR31,BSPRY,ALAD,POLE3,C9orf43,FAM225A,RGS3,SLC31A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004677
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ORM1,ORM2,AKNA,ATP6V1G1,TMEM268,WHRN,COL27A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005020
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ORM1,ORM2,AKNA,ATP6V1G1,TMEM268,WHRN,COL27A1
krumm_13_ASD_discovery_cases-case12507.p1
Maternal
Simplex
Not segregated
ZNF883,ZFP37
krumm_13_ASD_discovery_cases-case13296.p1
Maternal
Simplex
Segregated
INIP,KIAA1958,SNX30
krumm_13_ASD_discovery_cases-case13629.p1
Paternal
Simplex
Not segregated
BSPRY
krumm_13_ASD_discovery_cases-case13793.p1
Maternal
Simplex
Segregated
ZNF883,ZFP37
krumm_15_ASD_discovery_cases-case11331.p1
Illumina 1M
Paternal
Simplex
Segregated
AMBP,KIF12
krumm_15_ASD_discovery_cases-case11552.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
HDHD3,BSPRY
krumm_15_ASD_discovery_cases-case11568.p1
Illumina 1M
Maternal
Simplex
Segregated
INIP,KIAA1958,SNX30
krumm_15_ASD_discovery_cases-case11982.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ZNF883,ZFP37
krumm_15_ASD_discovery_cases-case12507.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ZNF883,ZFP37
krumm_15_ASD_discovery_cases-case12796.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ZNF883,ZFP37
krumm_15_ASD_discovery_cases-case13629.p1
1M-Duov3
Paternal
Simplex
Segregated
HDHD3,BSPRY
krumm_15_ASD_discovery_cases-case13635.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
ZNF883,ZFP37
krumm_15_ASD_discovery_cases-case13793.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
ZNF883,ZFP37
krumm_15_ASD_discovery_cases-case13934.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
WHRN
krumm_15_ASD_discovery_cases-case13977.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ZNF883,ZFP37
krumm_15_ASD_discovery_cases-case14086.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
ZNF883,ZFP37
laffin_12_CAS_discovery_cases-case9
Unknown
Multiplex
Unknown
ZNF883,ZFP37
levy_11_ASD_discovery_cases-11568.p1
Maternal
Simplex
Segregated
INIP,KIAA1958,SNX30
marcou_17_DD/ID_discovery_cases-case1
Unknown
Simplex
Unknown
MUPP,ZNF883
marshall_08_ASD_discovery_cases-NA0066-000
qPCR, qmPCR
Unknown
NA
NA
TRIM32,ASTN2
pinto_10_ASD_discovery_cases-case5261_4
Agilent1M
maternal
NA
NA
MUPP,ZNF883
poultney_13_ASD_discovery_cases-case05HI4105A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF883,ZFP37
poultney_13_ASD_discovery_cases-case98HI0355A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
AMBP,KIF12
poultney_13_ASD_discovery_cases-case98HI0355A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ORM1,ORM2,AKNA,COL27A1
prasad_12_ASD_discovery_cases-case125391
Unknown
Unknown
Unknown
ZNF618,AMBP,KIF12
prasad_12_ASD_discovery_cases-case45549
Unknown
Unknown
Unknown
ZFP37
prasad_12_ASD_discovery_cases-case46407
Unknown
Unknown
Unknown
ZNF883
prasad_12_ASD_discovery_cases-case59273L
Unknown
Unknown
Unknown
DFNB31
prasad_12_ASD_discovery_cases-case74431
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case90651
Unknown
Unknown
Unknown
ZNF618,AMBP,KIF12
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-180
qPCR
Unknown
Unknown
Unknown
AMBP,KIF12,ZNF618
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-180
Not tested by qPCR
Unknown
Unknown
Unknown
ORM1,ORM2,AKNA,COL27A1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-177a2
qPCR
Unknown
Unknown
Unknown
INIP,KIAA1958,SNX30
sanders_11_ASD_discovery_cases-11087.p1
Both parents
Simplex (trio)
NA
ORM1
sanders_11_ASD_discovery_cases-11117.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FAM225B
sanders_11_ASD_discovery_cases-11124.p1
Maternal
Simplex (quad-proband matched)
Segregated
HDHD3,BSPRY
sanders_11_ASD_discovery_cases-11331.p1
Paternal
Simplex (trio)
NA
AMBP,KIF12,ZNF618
sanders_11_ASD_discovery_cases-11331.p1
Paternal
Simplex (trio)
NA
ORM1,ORM2,AKNA,COL27A1
sanders_11_ASD_discovery_cases-11552.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HDHD3,BSPRY
sanders_11_ASD_discovery_cases-11568.p1
Maternal
Simplex (quad-proband matched)
Not segregated
INIP,KIAA1958,SNX30
sanders_11_ASD_discovery_cases-11609.p1
Paternal
Simplex (trio)
NA
ORM1
sanders_11_ASD_discovery_cases-11612.p1
Both parents
Simplex (trio)
NA
ORM1
sanders_11_ASD_discovery_cases-11627.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-11634.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-11660.p1
Both parents
Simplex (trio)
NA
ORM1
sanders_11_ASD_discovery_cases-11681.p1
Paternal
Simplex (trio)
NA
ORM1
sanders_11_ASD_discovery_cases-11691.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-11782.p1
Paternal
Simplex (trio)
NA
ORM1
sanders_11_ASD_discovery_cases-11808.p1
Unknown
Simplex (quad-proband matched)
Segregated
ORM1
sanders_11_ASD_discovery_cases-11857.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-11910.p1
Paternal
Simplex (trio)
NA
ORM1
sanders_11_ASD_discovery_cases-11935.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-11962.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-11962.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM2
sanders_11_ASD_discovery_cases-12036.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12044.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12056.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12101.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12121.p1
Unknown
Simplex (quad-proband matched)
Not segregated
HSDL2
sanders_11_ASD_discovery_cases-12157.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12320.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12329.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12345.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12480.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
ORM1
sanders_11_ASD_discovery_cases-12494.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12497.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ORM1,ORM2
sanders_11_ASD_discovery_cases-12507.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF883,ZFP37
sanders_11_ASD_discovery_cases-12512.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12532.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12543.p1
Both parents
Simplex (trio)
NA
ORM1
sanders_11_ASD_discovery_cases-12595.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12605.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12650.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12754.p1
Unknown
Simplex (trio)
NA
HSDL2,C9orf147
sanders_11_ASD_discovery_cases-12786.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12957.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-12979.p1
Paternal
Simplex (trio)
NA
ORM1
sanders_11_ASD_discovery_cases-12989.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-13005.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-13018.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-13021.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-13051.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-13088.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-13218.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
ORM1
sanders_11_ASD_discovery_cases-13294.p1
Maternal
Simplex (trio)
NA
ORM1
sanders_11_ASD_discovery_cases-13296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
INIP,KIAA1958,SNX30
sanders_11_ASD_discovery_cases-13296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FAM225B
sanders_11_ASD_discovery_cases-13322.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ORM1
sanders_11_ASD_discovery_cases-13367.p1
Unknown
Simplex (trio)
NA
DEC1
yin_16_ASD_discovery_cases-case371
Unknown
Unknown
Unknown
ZNF883,ZFP37
yin_16_ASD_discovery_cases-case372
Unknown
Unknown
Unknown
MIR455,ORM1,ORM2,AMBP,KIF12,AKNA,ATP6V1G1,RGS3,ZNF618,WHRN,COL27A1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036022291_
Unknown
HDHD3,BSPRY
engchuan_15_ASD_discovery_controls-controlB348917_1007843543
Unknown
AMBP,KIF12
engchuan_15_ASD_discovery_controls-controlB348917_1007843543
Unknown
ORM1,ORM2,AKNA,COL27A1
engchuan_15_ASD_discovery_controls-controlB377265_1007853663
Unknown
MIR455,ORM1,ORM2,TEX53,AKNA,ATP6V1G1,TMEM268,TEX48,WHRN,COL27A1
engchuan_15_ASD_discovery_controls-controlB534933_1007874890
Unknown
MIR455,ORM1,ORM2,TEX53,AKNA,ATP6V1G1,TMEM268,TEX48,WHRN,COL27A1
engchuan_15_ASD_discovery_controls-controlB754328_1007852652
Unknown
MUPP,ZNF883
engchuan_15_ASD_discovery_controls-controlHABC_900147_900147
Unknown
MUPP,ZNF883
engchuan_15_ASD_discovery_controls-controlHABC_902675_902675
Unknown
MUPP,ZNF883
krumm_13_ASD_discovery_controls-control12507.s1
Maternal
Simplex
ZNF883,ZFP37
krumm_13_ASD_discovery_controls-control13629.s1
Paternal
Simplex
BSPRY
krumm_15_ASD_discovery_controls-control11552.s1
Illumina 1M
Paternal
HDHD3,BSPRY
krumm_15_ASD_discovery_controls-control11982.s1
Illumina 1MDuo
Maternal
ZNF883,ZFP37
krumm_15_ASD_discovery_controls-control12507.s1
Illumina 1MDuo
Maternal
ZNF883,ZFP37
krumm_15_ASD_discovery_controls-control12592.s2
Illumina 1MDuo
Paternal
ZNF883,ZFP37
krumm_15_ASD_discovery_controls-control12657.s1
Illumina 1MDuo
Paternal
HDHD3,BSPRY
krumm_15_ASD_discovery_controls-control13042.s1
Illumina 1MDuo
Paternal
AMBP,KIF12
krumm_15_ASD_discovery_controls-control13042.s1
Illumina 1MDuo
Paternal
ORM1,ORM2,AKNA,COL27A1
krumm_15_ASD_discovery_controls-control13518.s1
1M-Duov3
Maternal
ZNF883,ZFP37
krumm_15_ASD_discovery_controls-control13934.s1
Omni2.5-4v1
Paternal
WHRN
krumm_15_ASD_discovery_controls-control13977.s1
Omni2.5-4v1
Maternal
ZNF883,ZFP37
krumm_15_ASD_discovery_controls-control14086.s1
Omni2.5-4v1
De novo
ZNF883,ZFP37
levy_11_ASD_discovery_controls-11494.s1
Maternal
Simplex
NA
MUPP,ZNF883
poultney_13_ASD_discovery_controls-control04C28060A
Unknown
ZNF883,ZFP37
poultney_13_ASD_discovery_controls-control04C31170A
Unknown
MUPP,FAM225B,SLC31A2,SLC46A2,ZNF883,ZFP37,FKBP15,SNX30,FAM225A
poultney_13_ASD_discovery_controls-control05C39035A
Unknown
ZNF883,ZFP37
poultney_13_ASD_discovery_controls-control05C40316A
Unknown
ORM1,ORM2
sanders_11_ASD_discovery_controls-11093.s1
Maternal
Simplex (quad)
NA
FAM225B
sanders_11_ASD_discovery_controls-11117.s1
Maternal
Simplex (quad)
NA
FAM225B
sanders_11_ASD_discovery_controls-11196.s1
Maternal
Simplex (quad)
NA
FAM225B
sanders_11_ASD_discovery_controls-11234.s1
Paternal
Simplex (quad)
NA
FAM225B
sanders_11_ASD_discovery_controls-11494.s1
Maternal
Simplex (quad)
NA
MUPP,ZNF883
sanders_11_ASD_discovery_controls-11552.s1
Paternal
Simplex (quad)
NA
HDHD3,BSPRY
sanders_11_ASD_discovery_controls-11638.s1
Both parents
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-11935.s1
Paternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-11941.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11947.s1
Maternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-11962.s1
Both parents
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-11982.s1
Both parents
Simplex (quad)
NA
ZNF883,ZFP37
sanders_11_ASD_discovery_controls-12036.s1
Maternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12044.s1
Maternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12086.s1
Paternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12121.s1
Unknown
Simplex (quad)
NA
HSDL2
sanders_11_ASD_discovery_controls-12202.s1
Maternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12228.s1
Maternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12271.s1
Paternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12296.s1
Both parents
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12329.s1
Paternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12369.s1
Maternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12438.s1
Paternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12507.s1
Maternal
Simplex (quad)
NA
ZNF883,ZFP37
sanders_11_ASD_discovery_controls-12605.s1
Paternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12644.s1
Maternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12650.s1
Maternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12657.s1
Paternal
Simplex (quad)
NA
HDHD3,BSPRY
sanders_11_ASD_discovery_controls-12664.s1
Both parents
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12667.s1
Paternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12722.s1
Paternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12780.s1
Paternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12852.s1
Maternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-12957.s1
Maternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-13005.s1
Maternal
Simplex (quad)
NA
ORM1
sanders_11_ASD_discovery_controls-13042.s1
Paternal
Simplex (quad)
NA
AMBP,KIF12
sanders_11_ASD_discovery_controls-13042.s1
Paternal
Simplex (quad)
NA
ORM1,COL27A1
sanders_11_ASD_discovery_controls-13089.s1
Maternal
Simplex (quad)
NA
ORM1
No Animal Model Data Available