7p11.2CNV Type: Duplication
Largest CNV size: 110274 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
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...
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
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.
Duplication
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.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
764711
1
4
5
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
98363
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
247697
0
2
2
ghasemi_22_ASD_discovery_cases
Iranian patients with syndromic ASD from Imam Hossein Hospital.
36
Diagnosis of ASD in cases confirmed by the diagnostic criteria of ASD based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-5).
Range, 3-17 yrs.
83.33% Male
2443557
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
165366
0
1
1
kalsner_17_ASD_discovery_cases
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
100
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Range, 21 mos.-17 yrs.
76.0% Male
35500
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
313135
0
1
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
133170
0
2
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
600000
0
1
1
moreira_14_ASD/EP_discovery_cases
ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
531
ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
N/A
N/A
621000
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
91206
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
18460
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
81653
0
1
1
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
623000
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
110274
0
2
2
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
23528
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
256369
2
3
5
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
654196
1
3
4
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
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
133170
0
2
2
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.
20329
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)
12489
1
0
1
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)
81653
0
0
0
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
623000
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
29287
3
2
5
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
23528
N/A
N/A
N/A
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
256369
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
ghasemi_22_ASD_discovery_cases
Iran
aCGH
SurePrint G3 ISCA V2 8X60K
NA
NA
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
kalsner_17_ASD_discovery_cases
52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
CMA
Platform not reported
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
moreira_14_ASD/EP_discovery_cases
Ethnically-mixed Brazilian
Array SNP
Various Affymetrix platforms
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
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
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
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
engchuan_15_ASD_discovery_cases-case14215_3460
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54177073
54248379
71307
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14234_1920
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56634833
56810720
175888
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14234_1920
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56859402
57595652
736251
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14240_3260
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57186940
57595652
408713
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4243_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54160799
54225370
64572
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU0997301
Autism
55586009
55684371
98363
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU039903
Autism
53949138
54156583
207446
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU039904
Autism
53928428
54176124
247697
Unknown
Duplication
No
ghasemi_22_ASD_discovery_cases-case2
9 yrs.
F
ASD, ADHD, developmental delay, and intellectual disability
Birth/neonatal history: delivery by C-section following a normal pregnancy. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: diagnosis of ASD confirmed based on DSM-5 criteria; ADHD. Epilepsy/seizures: none. EEG: normal. Brain imaging: normal brain MRI. Family history: only child of healthy and consanguineous Iranian parents.
Mild intellectual disability
54481357
56924913
2443557
GRCh38
Duplication
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
55363846
55529212
165367
GRCh38
Duplication
No
kalsner_17_ASD_discovery_cases-case15
N/A
N/A
ASD
Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
55979669
56015205
35537
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001957
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
54724764
55037899
313136
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1824
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
57488782
57528311
39530
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case1831
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
57488782
57621951
133170
Unknown
Duplication
No
leppa_16_ASD_discovery_cases-AU1292302
N/A
M
ASD
57187293
57808294
621002
GRCh38
Duplication
No
moreira_14_ASD/EP_discovery_cases-case8
5 yrs.
M
ASD
Language and communication evaluation: absent speech. Epilepsy/seizures: none. Dysmorphic features: deep set ears/prominent or large ears, epicanthus. Growth parameters: height of 113 cm (75th-90th %ile), weight of 19 kg (50th-75th %ile), and head circumference of 52 cm (75th %ile).
57193212
57822624
629413
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case114604
N/A
F
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
57729825
57821030
91206
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case6372_3
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
55944068
55962527
18460
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case52026
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
56479143
56560795
81653
Unknown
Duplication
No
reinthaler_14_EP_discovery_cases-caseAVRE04
N/A
M
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
57188421
57819147
630727
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11372.p1
5.7
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 99
54324814
54435088
110275
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12194.p1
5.7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
54262476
54305831
43356
GRCh38
Duplication
No
walker_13_ASD_discovery_cases-case2-1213-003
N/A
M
ASD
N/A
N/A
54139355
54162882
23528
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case263
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
57052990
57309358
256369
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case264
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
57052990
57309358
256369
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case265
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
57052990
57309358
256369
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case266
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
57449018
57485843
36826
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case267
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
57449018
57485843
36826
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-control110036016434_
N/A
N/A
Control
No previous psychiatric history
54236167
54328417
92251
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900361_900361
N/A
N/A
Control
No previous psychiatric history
54235432
54305831
70400
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900475_900475
N/A
N/A
Control
No previous psychiatric history
57098495
57760692
662198
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900560_900560
N/A
N/A
Control
No previous psychiatric history
57069763
57536723
466961
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split216
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
57488782
57621951
133170
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split631
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
56247391
56266452
19062
Unknown
Duplication
No
nord_11_ASD_discovery_controls-04C25914
Control
54331581
54351909
20329
Unknown
Deletion
poultney_13_ASD_discovery_controls-control05C41827
N/A
F
Control
NIMH Control (NIMH ID 49525)
57119838
57132326
12489
GRCh38
Deletion
No
reinthaler_14_EP_discovery_controls-control19
N/A
N/A
Control
Control
57188421
57819147
630727
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11456.s1
11.3
M
Control (matched sibling)
NA
NA
54391262
54420549
29288
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11568.s1
16.7
F
Control (matched sibling)
NA
NA
54118909
54121396
2488
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12701.s1
10.4
M
Control (matched sibling)
NA
NA
54118909
54121396
2488
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
55794064
55802827
8764
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13301.s1
12.3
M
Control (matched sibling)
NA
NA
54579095
54594595
15501
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case14215_3460
Unknown
engchuan_15_ASD_discovery_cases-case14234_1920
Unknown
engchuan_15_ASD_discovery_cases-case14234_1920
Unknown
MIR4283-1,PHKG1P4,MTCO3P10,MTND4LP32,MTND4P4,MTND5P6,MTND6P29,MTCYBP29,GUSBP10,MTND1P4,MTND2P6,MTCO3P4,MTND4P5,MTND5P7,MTCYBP5,GUSBP12,RNU7-157P,MIR3147,VN1R28P,SAPCD2P2,TNRC18P3,ZNF479,ZNF716,SLC29A4P1
engchuan_15_ASD_discovery_cases-case14240_3260
Unknown
MTND2P6,MTCO3P4,MTND4P5,MTND5P7,MTCYBP5,GUSBP12,RNU7-157P,MIR3147,VN1R28P,SAPCD2P2,ZNF716
engchuan_15_ASD_discovery_cases-case4243_1
Unknown
gai_11_ASD_discovery_cases-AU0997301
Inherited
VOPP1, LOC442308
gai_11_ASD_replication_cases-AU039903
Inherited
0 genes
gai_11_ASD_replication_cases-AU039904
Inherited
0 genes
ghasemi_22_ASD_discovery_cases-case2
De novo
Simplex
CCT6A,CALM1P2,EGFR,MRPS17,CHCHD2,LANCL2,VOPP1,NIPSNAP2,VSTM2A,VSTM2A-OT1,SEPTIN14,FKBP9P1,ZNF713,NUPR2,TUBBP6,IFITM3P4,CDC42P2,CICP8,SUMO2P3,SNORA15,CCNJP1,RBM22P3,RPL31P35,NMD3P2,CICP28,CICP11,VN1R25P,TRIM60P16,CICP12,EGFR-AS1,SEC61G-DT,PHKG1,PSPH,ELDR,SEPTIN14P24,RNU6-1335P,RNU6-1052P,RNU6-1125P,RNU6-389P,RNU6-1126P,SNORA22B,PSPHP1,SEC61G,SUMF2
iourov_12_ASD/ID/EP_discovery_cases-case28
Unknown
Unknown
Unknown
LANCL2,VOPP1
kalsner_17_ASD_discovery_cases-case15
Unknown
Unknown
Unknown
PSPH,NIPSNAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001957
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
SEC61G,EGFR
kanduri_15_ASD_discovery_cases-case1824
De novo
Unknown
Unknown
ZNF716
kanduri_15_ASD_discovery_cases-case1831
Paternal
Unknown
Unknown
ZNF716
leppa_16_ASD_discovery_cases-AU1292302
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
MTND2P6,MTCO3P4,MTND4P5,MTND5P7,MTCYBP5,GUSBP12,RNU7-157P,MIR3147,VN1R28P,SAPCD2P2,ZNF716,NCOR1P3,BSNDP4
moreira_14_ASD/EP_discovery_cases-case8
Unknown
Unknown
Unknown
MTND4P5,MTND5P7,MTCYBP5,GUSBP12,RNU7-157P,MIR3147,VN1R28P,SAPCD2P2,ZNF716,NCOR1P3,BSNDP4
mosca_16_DCD_discovery_cases-case114604
Unknown
Unknown
Unknown
pinto_14_ASD_discovery_cases2-case6372_3
qPCR
Paternal
Simplex
(not tested)
MRPS17,NIPSNAP2
prasad_12_ASD_discovery_cases-case52026
Unknown
Unknown
Unknown
LOC650226,DKFZp434L192
reinthaler_14_EP_discovery_cases-caseAVRE04
Unknown
Unknown
Unknown
MTCO3P4,MTND4P5,MTND5P7,MTCYBP5,GUSBP12,RNU7-157P,MIR3147,VN1R28P,SAPCD2P2,ZNF716,NCOR1P3,BSNDP4
sanders_11_ASD_discovery_cases-11372.p1
Maternal
Simplex (quad-proband matched)
Segregated
SLC25A5P3,LINC01445
sanders_11_ASD_discovery_cases-12194.p1
Paternal
Simplex (trio)
NA
walker_13_ASD_discovery_cases-case2-1213-003
Unknown
Simplex
Unknown
yin_16_ASD_discovery_cases-case263
Unknown
Unknown
Unknown
PHKG1P4,MTCO3P10,MTND4LP32,MTND4P4,MTND5P6,MTND6P29,MTCYBP29,GUSBP10,MTND1P4,MTND2P6,MTCO3P4,MTND4P5,MTND5P7,MTCYBP5,GUSBP12,RNU7-157P,ZNF479
yin_16_ASD_discovery_cases-case264
Unknown
Unknown
Unknown
PHKG1P4,MTCO3P10,MTND4LP32,MTND4P4,MTND5P6,MTND6P29,MTCYBP29,GUSBP10,MTND1P4,MTND2P6,MTCO3P4,MTND4P5,MTND5P7,MTCYBP5,GUSBP12,RNU7-157P,ZNF479
yin_16_ASD_discovery_cases-case265
Unknown
Unknown
Unknown
PHKG1P4,MTCO3P10,MTND4LP32,MTND4P4,MTND5P6,MTND6P29,MTCYBP29,GUSBP10,MTND1P4,MTND2P6,MTCO3P4,MTND4P5,MTND5P7,MTCYBP5,GUSBP12,RNU7-157P,ZNF479
yin_16_ASD_discovery_cases-case266
Unknown
Unknown
Unknown
ZNF716
yin_16_ASD_discovery_cases-case267
Unknown
Unknown
Unknown
ZNF716
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036016434_
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900361_900361
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900475_900475
Unknown
MTCO3P10,MTND4LP32,MTND4P4,MTND5P6,MTND6P29,MTCYBP29,GUSBP10,MTND1P4,MTND2P6,MTCO3P4,MTND4P5,MTND5P7,MTCYBP5,GUSBP12,RNU7-157P,MIR3147,VN1R28P,SAPCD2P2,ZNF479,ZNF716,NCOR1P3,BSNDP4
engchuan_15_ASD_discovery_controls-controlHABC_900560_900560
Unknown
MTCO3P10,MTND4LP32,MTND4P4,MTND5P6,MTND6P29,MTCYBP29,GUSBP10,MTND1P4,MTND2P6,MTCO3P4,MTND4P5,MTND5P7,MTCYBP5,GUSBP12,RNU7-157P,MIR3147,VN1R28P,SAPCD2P2,ZNF479,ZNF716
kanduri_15_ASD_discovery_controls-control_split216
Unknown
ZNF716
kanduri_15_ASD_discovery_controls-control_split631
Unknown
Intergenic CNV: nearest genes, NUPR1L(dist=63301),LOC650226(dist=224945)
nord_11_ASD_discovery_controls-04C25914
0 genes
poultney_13_ASD_discovery_controls-control05C41827
Unknown
ZNF479
reinthaler_14_EP_discovery_controls-control19
Unknown
MTCO3P4,MTND4P5,MTND5P7,MTCYBP5,GUSBP12,RNU7-157P,MIR3147,VN1R28P,SAPCD2P2,ZNF716,NCOR1P3,BSNDP4
sanders_11_ASD_discovery_controls-11456.s1
Paternal
Simplex (quad)
NA
SLC25A5P3
sanders_11_ASD_discovery_controls-11568.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12701.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12867.s1
Both parents
Simplex (quad)
NA
CICP12,SEPT14
sanders_11_ASD_discovery_controls-13301.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available