11q13.3CNV Type: Deletion
Largest CNV size: 118573 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
berkel_10_ASD_discovery_cases
Unrelated ASD probands ascertained at Hospital for Sick Children (Toronto) and McMaster Univ. (Hamilton). ASD probands also described in Marshall et al., 2008 CNV report.
396
ASD (diagnosis made using ADI-R and ADOS measures)
80.30% Male
66175
1
0
1
berkel_10_MR_discovery_cases
MR probands recruited as part of German Mental Retardation Network (MRNET) study
184
Mental retardation (MR) of unknown etiology. 21 of 184 individuals in this cohort had autistic features as reported from clinical assessment.
60.32% Male
118573
1
0
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
428808
4
0
4
leblond_12_ASD_discovery_cases
ASD cases recruited by the PARIS (Paris Autism Research International Sibpair) study at specialized centers disposed in France, Sweden, Germany, Finland, and the UK.
260
171 cases with autism, 20 cases with atypical autism, 69 cases with Asperger syndrome (ADOS and either ADI-R or DISCO-10 used for diagnosis). 79 cases with IQ>70, 133 cases with IQ<70, 48 cases with unknown IQ.
74.6% Male
421201
1
0
1
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
67956
2
0
2
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
67956
2
0
2
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
428809
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
68314
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
21498
20
0
20
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
berkel_10_ASD_discovery_controls
1234 controls from Ottawa Heart Genomics study, 1123 controls from Northern Germany (PopGen), 59 CEPH Hapmap controls, 1287 from SAGE control project, & 1320 from CHOP pediatric control study
5023
Control
66175
0
0
0
berkel_10_MR_discovery_controls
1234 controls from Ottawa Heart Genomics study, 1123 controls from Northern Germany (PopGen), 59 CEPH Hapmap controls, 1287 from SAGE control project, & 1320 from CHOP pediatric control study
5023
Control
118573
0
0
0
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
112
1
0
1
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
30752
1
0
1
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
56484
0
1
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
13540
2
0
2
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
68314
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.
8031
25
0
25
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
berkel_10_ASD_discovery_cases
Canadian
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M
Birdsuite, Affymetrix Genotyping Console, iPattern, QuantiSNP, iPattern, PennCNV
qPCR
berkel_10_MR_discovery_cases
German
Array SNP
Affymetrix 6.0
Birdsuite, Affymetrix Genotyping Console, iPattern
FISH, sequencing
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
leblond_12_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina Human 1M-Dup BeadChip
QuantiSNP, PennCNV
qPCR
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
qPCR, aCGH (Agilent 1M)
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)
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
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
berkel_10_ASD_discovery_controls
European
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Illumina 550K
berkel_10_MR_discovery_controls
European
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Illumina 550K
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
berkel_10_ASD_discovery_cases-SK0217-003
NA
F
ASD
Final research diagnosis of autism (ADOS). ADOS (module 2) scores: communication, 6; social interaction, 10; total, 16; severity score, 8. Normal growth and phenotype; motor delay evident at 5 months; slow reactions and adaption; little mimic. Normal family history. Proband was previously described in Marshall et al., 2008 CNV study (only the 6q21 duplication was identified in that study)
Leiter-R brief full-scale IQ: 67 (1 %ile)
70630455
70697129
66675
GRCh38
Deletion
Yes
berkel_10_MR_discovery_cases-MO1812A011
NA
M
MR + ASD
Final research diagnosis of autism (ADOS & ADI-R). ADOS (module 2) scores: communication, 7; social interaction, 12; total, 19; play, 1; interests & behaviors, 2; severity score, 8. ADI-R scores: social, 23; communication, 21; behaviors, 7. Adaptive behavior measures (VABS): communication, 45 (<1 %ile); daily living skills, 36 (<1 %ile); socialization, 56 (<1 %ile); motor skills, NA; composite/total, 42 (<1 %ile). Language measures (PLS-3): receptive language, 57 (<1% ile); expressive language, 50 (<1 %ile); total, 50 (<1 %ile). Bilateral clinodactyly, 5th digits; bilateral dysmorphic toes. Family history: father with attention difficulites, father's family has history of ADHD; mother normal, mother's family has history of depression, ADHD, & social difficulties.
Snijders-Oomen Nonverbal Intelligence Test (SON-R) scores: verbal IQ, 50; performance IQ, 56; full-scale IQ, <50 (<1 %ile)
70542146
70660719
118574
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14072_1250
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70230432
70265426
34995
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5237_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70630705
70696879
66175
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case6319_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70596164
70664119
67956
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case6325_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70553754
71117621
563868
GRCh38
Deletion
Yes
leblond_12_ASD_discovery_cases-AUGB038_3
11.05 yrs.
M
Autism
ADI-R domain scores (at 11 yrs.): social, 24; communication, 23; behavior, 6. Birth/neonatal history: normal pregnancy and delivery, at term; height 48 cm, weight 2500 g, HC 31 cm; Apgar scores of 7 and 10; no mention of signs of hypotonia in first year. Developmental milestones: apparently normal motor acquisition, severe speech delay; age of sitting, 6 months; age of walking, 18 months; age of first words, 48 months; age of first sentences, 78 months; no regression during development. Language and communication evaluation: expressive language limited to restrictive sentences, mainly dyssyntaxic. Neurological evaluation: normal neurological exam. Epilepsy/seizures: none. EEG: no significant epileptic event reported. Brain imaging: ND. Other exams: karyotype, fragile X, and metabolic screening normal. Other comorbid conditions: inguinal hernia, operated at 2 months of age; hypermetropia and astigmatism. Dysmorphic features: prominent chin, no other dysmorphic features. Family history: non-consanguineous parents, no relevant personal and familial history of psychiatric or medical illness.
Composite score on Kaufman Assessment Battery for Children/K-ABC (age at evaluation, 11.05 years) of 40 (moderate ID)
70553754
71110013
556260
GRCh38
Deletion
Yes
leblond_12_ASD_replication_cases-Pintocase5237_3
NA
M
Autism
Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
Below average non-verbal IQ (<1st %ile)
70630705
70696879
66175
GRCh38
Deletion
Yes
leblond_12_ASD_replication_cases-Pintocase6319_3
NA
M
PDD-NOS
ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
70596164
70664119
67956
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5237_3
NA
M
Autism
Below average language (<1%ile), no epilepsy, 5th finger clinodactyly, several curled toes
Below average nonverbal IQ (1%ile)
70630705
70696879
66175
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case6319_3
NA
M
PDD-NOS
Language delay, functional language, no epilepsy, hypermetropia, large and prominent ears, no other dysmorphic features, flat feet, normal brain MRI
Mild MR
70596164
70664119
67956
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case6325_3
N/A
M
ASD
Case previously described in Leblond et al. 2012 (subject AU038_3). Autism, congenital inguinal hernia, severe language delay, functional language, no dysmorphic features, normal neurological exam, hypermetropia, astigmatism, no epilepsy. Family history: both parents unaffected; no siblings.
Moderate ID
70553754
71117621
563868
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case113501L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
70149844
70218157
68314
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11030.p1
8.3
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11096.p1
13.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 95
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11160.p1
6.9
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 119; verbal IQ, 99
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11178.p1
9.3
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 119; verbal IQ, 103
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11190.p1
5.1
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 59; verbal IQ, 59
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11214.p1
15.5
M
ASD
NA
Full-scale IQ, 93; non-verbal IQ, 100; verbal IQ, 83
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11225.p1
11.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 98; verbal IQ 120
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11366.p1
5
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 40; verbal IQ, 22
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11375.p1
6.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 115; verbal IQ, 93
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11381.p1
5.6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 89; verbal IQ, 68
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11383.p1
7.1
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 95; verbal IQ, 95
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11518.p1
11.2
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 13
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11753.p1
17.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11781.p1
7
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 86; verbal IQ, 88
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12091.p1
4.4
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
69700655
69722153
21499
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12130.p1
8.4
F
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
70230432
70248052
17621
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12515.p1
6.3
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12925.p1
13.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 101; verbal IQ, 136
70230432
70235559
5128
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
brandler_18_ASD_discovery_controls-controlSSC00622
N/A
M
Control
Control from SSC_phase1 cohort
70189042
70189154
113
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB769494_1007846090
N/A
N/A
Control
No previous psychiatric history
70230432
70261184
30753
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-55209112484
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69931656
69988131
56476
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27962
Control
69649899
69660802
10904
Unknown
Deletion
nord_11_ASD_discovery_controls-04C28234
Control
70541498
70555037
13540
Unknown
Deletion
sanders_11_ASD_discovery_controls-11030.s1
5.3
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11096.s1
11.7
M
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11187.s1
11.1
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11190.s1
6.8
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11203.s1
4
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11214.s1
17.2
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11246.s1
6.7
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11336.s1
12.9
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11366.s1
10.8
M
Control (matched sibling)
NA
NA
70231392
70235559
4168
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11374.s1
18.1
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11543.s1
18.1
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11584.s1
13.5
M
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11714.s1
4.3
M
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11753.s1
15.1
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11773.s1
14.3
M
Control (matched sibling)
NA
NA
70245865
70253896
8032
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11831.s1
7.5
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11905.s1
8.6
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12029.s1
12.6
M
Control (matched sibling)
NA
NA
70644102
70651357
7256
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12130.s1
8.4
M
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12211.s1
11.2
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12440.s1
5.1
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12483.s1
12.7
M
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12515.s1
4.2
M
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12652.s1
4.1
F
Control (matched sibling)
NA
NA
70230432
70235559
5128
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
berkel_10_ASD_discovery_cases-SK0217-003
qPCR
De novo
Simplex
NA
SHANK2-AS2,SHANK2-AS1,SHANK2
berkel_10_MR_discovery_cases-MO1812A011
FISH, sequencing
De novo
Simplex
NA
SHANK2-AS2,SHANK2-AS1,SHANK2
engchuan_15_ASD_discovery_cases-case14072_1250
Unknown
engchuan_15_ASD_discovery_cases-case5237_3
De novo
SHANK2-AS2,SHANK2-AS1,SHANK2
engchuan_15_ASD_discovery_cases-case6319_3
De novo
SHANK2-AS2,SHANK2-AS1,SHANK2
engchuan_15_ASD_discovery_cases-case6325_3
De novo
SHANK2-AS2,SHANK2-AS3,MIR3664,SHANK2-AS1,SHANK2
leblond_12_ASD_discovery_cases-AUGB038_3
qPCR
De novo
Simplex
SHANK2-AS2,SHANK2-AS3,MIR3664,SHANK2-AS1,SHANK2
leblond_12_ASD_replication_cases-Pintocase5237_3
qPCR, aCGH (Agilent 1M)
De novo
SHANK2-AS2,SHANK2-AS1,SHANK2
leblond_12_ASD_replication_cases-Pintocase6319_3
qPCR
De novo
SHANK2-AS2,SHANK2-AS1,SHANK2
pinto_10_ASD_discovery_cases-case5237_3
qPCR-Denovo,Agilent1M
De novo
Simplex
NA
SHANK2-AS2,SHANK2-AS1,SHANK2
pinto_10_ASD_discovery_cases-case6319_3
qPCR-Denovo
De novo
Simplex
NA
SHANK2-AS2,SHANK2-AS1,SHANK2
pinto_14_ASD_discovery_cases2-case6325_3
qPCR
De novo
Simplex
Likely segregated (no siblings)
SHANK2-AS2,SHANK2-AS3,MIR3664,SHANK2-AS1,SHANK2
prasad_12_ASD_discovery_cases-case113501L
Unknown
Unknown
Unknown
SHANK2
sanders_11_ASD_discovery_cases-11030.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11096.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11160.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11178.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11190.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11214.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11225.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11336.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11366.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11375.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11381.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11383.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11518.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11753.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11781.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12091.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FGF19
sanders_11_ASD_discovery_cases-12130.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12334.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12515.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12925.p1
Paternal
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC00622
Not available
Maternal
ANO1
engchuan_15_ASD_discovery_controls-controlB769494_1007846090
Unknown
girirajan_13b_ASD_discovery_controls-55209112484
Unknown
nord_11_ASD_discovery_controls-04C27962
ANO1
nord_11_ASD_discovery_controls-04C28234
SHANK2
sanders_11_ASD_discovery_controls-11030.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11096.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11187.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11190.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11203.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11214.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11246.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11336.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11366.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11374.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11436.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11543.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11584.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11714.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11753.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11773.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11831.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11905.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12029.s1
Paternal
Simplex (quad)
NA
SHANK2-AS2,SHANK2
sanders_11_ASD_discovery_controls-12130.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12211.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12440.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12483.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12515.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12652.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available