11q13.4CNV Type: Deletion-Duplication
Largest CNV size: 182755 bp
Statistics Box:
Number of Reports: 17
Number of Reports: 17
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
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
A large data resource of genomic copy number variation across neurodevelopmental disorders
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
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.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
9000
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
138867
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
73
1
0
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
330895
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
150406
1
1
2
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
532046
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
5282
2
0
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
182755
1
1
2
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
449691
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
28221
0
1
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
10946
1
0
1
qiao_12_ASD/ID_discovery_cases
Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
52
ASD and/or ID (intellectual disability)
NA
NA
78597
0
1
1
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
111081
1
0
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
75384
2
5
7
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
753000
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
138865
2
0
2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
131916
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
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
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
963
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
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)
23881
0
1
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)
10946
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.
129281
2
1
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
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
qiao_12_ASD/ID_discovery_cases
Canadian
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.1
QMPSF
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
shin_15_ASD/DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
asadollahi_14_NDD_discovery_cases-case68629
N/A
M
NDD
Case with unspecified neurodevelopmental disorder
75181245
75190692
9448
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case7-0273-003
N/A
M
ASD
Case from MSSNG cohort
70605705
70744571
138867
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11076
NA
M
ASD
NA
NA
73718718
73718791
74
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA196
N/A
N/A
ASD
CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
74228390
74559284
330895
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14196_3200
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71939322
71983599
44278
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18120_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73827653
73978059
150407
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001225
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
73403238
73935284
532047
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004687
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
73647348
73927680
280333
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12308.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
72693691
72695099
1409
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13910.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
73646608
73651890
5283
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11730.p1
NA
M
ASD
NA
NA
73628335
73811089
182755
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12100.p1
NA
M
ASD
NA
NA
72322855
72334509
11655
GRCh38
Deletion
No
miclea_22_DD/ID_discovery_cases-case110
NA
NA
Developmental delay and intellectual disability
Global developmental delay, obesity
Intellectual disability
71258672
71708362
449691
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI2779A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0997302; NDAR ID NDAR_INVCJ416NVR)
73899144
73927364
28221
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case60662-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
74803827
74814772
10946
Unknown
Deletion
No
qiao_12_ASD_discovery_cases-case10-27A
NA
NA
ASD and/or ID
NA
NA
74833461
74912058
78597
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-297a2
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: no.
Developmental delay: yes. Intellectual disability: N/A.
72898074
73009154
111081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
75299853
75318123
18271
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11831.p1
10.5
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 110
71812720
71838128
25409
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12106.p1
9.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
71812720
71838128
25409
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
71590143
71628785
38643
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12286.p1
4.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
71660308
71719424
59117
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12809.p1
5.6
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 88; verbal IQ, 88
74394060
74469444
75385
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13153.p1
9.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
71812720
71849534
36815
GRCh38
Duplication
No
shin_15_ASD/DD/ID_discovery_cases-case23
3 yrs.
M
Developmental delay/intellectual disability
Developmental delay, intellectual disability
Intellectual disability
71281982
72034720
752739
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0217-003
N/A
N/A
ASD
Case cohort: The Autism Simplex Collection . Clinical description: bilateral clinodactyly 5th digits, bilateral dysmorphic toes
70625895
70695895
70001
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case7-0273-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: ADHD
70605706
70744571
138866
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0273-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
70605983
70737898
131916
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
krumm_15_ASD_discovery_controls-control12832.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
71443992
71444955
964
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control04C30933A
N/A
M
Control
NIMH Control (NIMH ID 60269)
75266161
75290041
23881
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
71590143
71719424
129282
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12223.s1
10.9
F
Control (matched sibling)
NA
NA
72431026
72436831
5806
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12463.s1
12.3
F
Control (matched sibling)
NA
NA
73709464
73714229
4766
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case68629
MLPA
Maternal
Unknown
Unknown
SLCO2B1
brandler_18_ASD_replication_cases-case7-0273-003
No validation step reported
Maternal
SHANK2-AS2,SHANK2-AS1,SHANK2
celestino-soper_11_ASD_discovery_cases-11076
Unknown
Simplex
NA
RAB6A
egger_14_ASD_discovery_cases-caseA196
Unknown
Unknown
HNRNPA1P40,MIR548AL,CYCSP27,LIPT2,P4HA3,PGM2L1,KCNE3,PPME1,P4HA3-AS1,POLD3
engchuan_15_ASD_discovery_cases-case14196_3200
Unknown
RNF121
engchuan_15_ASD_discovery_cases-case18120_302
Unknown
RN7SKP243,CCDC58P5,UCP2,COA4,DNAJB13,MRPL48,PAAF1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001225
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HMGN2P38,RN7SKP243,CCDC58P5,RAB6A,COA4,FAM168A,PLEKHB1,MRPL48,PAAF1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004687
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RN7SKP243,CCDC58P5,RAB6A,COA4,PLEKHB1,MRPL48,PAAF1
krumm_15_ASD_discovery_cases-case12308.p1
Illumina 1MDuo
De novo
Simplex
Segregated
ARAP1-AS1,ARAP1
krumm_15_ASD_discovery_cases-case13910.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
PLEKHB1
levy_11_ASD_discovery_cases-11730.p1
Paternal
Simplex
Segregated
RAB6A,PLEKHB1,MRPL48
levy_11_ASD_discovery_cases-12100.p1
De novo
Simplex
Segregated
CLPB
miclea_22_DD/ID_discovery_cases-case110
Unknown
DHCR7,NADSYN1,KRTAP5-8,UNC93B6,KRTAP5-14P,KRTAP5-10,ACTE1P,KRTAP5-7,KRTAP5-11,KRTAP5-9,RPS3AP41,SNRPCP14,MIR6754,OR7E4P,OR7E87P
poultney_13_ASD_discovery_cases-case04HI2779A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PAAF1
prasad_12_ASD_discovery_cases-case60662-L
Unknown
Unknown
Unknown
KLHL35
qiao_12_ASD_discovery_cases-case10-27A
QMPSF
Paternal
Unknown
Unknown
GDPD5
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-297a2
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
FCHSD2
sanders_11_ASD_discovery_cases-11129.p1
Paternal
Simplex (trio)
NA
ARRB1
sanders_11_ASD_discovery_cases-11831.p1
Maternal
Simplex (quad-proband matched)
Segregated
ZNF705E,DEFB108B,ALG1L9P
sanders_11_ASD_discovery_cases-12106.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF705E,DEFB108B,ALG1L9P
sanders_11_ASD_discovery_cases-12158.p1
Both parents
Simplex (trio)
NA
OR7E87P,UNC93B6,OR7E4P,KRTAP5-11
sanders_11_ASD_discovery_cases-12286.p1
Unknown
Simplex (trio)
NA
RPS3AP41,SNRPCP14,ENPP7P8
sanders_11_ASD_discovery_cases-12809.p1
Maternal
Simplex (trio)
NA
MIR548AL,PGM2L1,KCNE3
sanders_11_ASD_discovery_cases-13153.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ZNF705E,DEFB108B,RNA5SP342,ALG1L9P
shin_15_ASD/DD/ID_discovery_cases-case23
Unknown
Unknown
MIR6754,KRTAP5-7,KRTAP5-8,KRTAP5-10,KRTAP5-14P,OR7E87P,UNC93B6,OR7E4P,RPS3AP41,SNRPCP14,ZNF705E,DEFB108B,RNA5SP342,DEFB131B,OR7E128P,OR7E126P,IL18BP,FLJ42102,NADSYN1,KRTAP5-9,KRTAP5-11,ENPP7P8,FAM86C1,ALG1L9P,DEFB130C,NUMA1,DHCR7,RNF121
yuen_17_ASD_discovery_cases-case1-0217-003
Illumina1M
De novo
Simplex
Segregated
SHANK2-AS2,SHANK2-AS1,SHANK2
yuen_17_ASD_discovery_cases-case7-0273-003
Affymetrix CytoScan HD
Maternal
Simplex
Unknown
SHANK2-AS2,SHANK2-AS1,SHANK2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0273-003
RT-qPCR or WGS
Maternal
SHANK2-AS2,SHANK2-AS1,SHANK2
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control12832.s1
Illumina 1MDuo
Maternal
DHCR7
poultney_13_ASD_discovery_controls-control04C30933A
Unknown
ARRB1
sanders_11_ASD_discovery_controls-12060.s1
Unknown
Simplex (quad)
NA
OR7E87P,UNC93B6,OR7E4P,RPS3AP41,SNRPCP14,KRTAP5-11,ENPP7P8
sanders_11_ASD_discovery_controls-12223.s1
Unknown
Simplex (quad)
NA
CLPB
sanders_11_ASD_discovery_controls-12463.s1
Maternal
Simplex (quad)
NA
RAB6A
No Animal Model Data Available