8q24.23CNV Type: Deletion-Duplication
Largest CNV size: 188000 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
2296
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
1007
1
0
1
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
2092000
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
133707
2
1
3
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
180817
1
0
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
188000
3
0
3
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
554000
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
456727
1
1
2
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
356036
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
53407
64
1
65
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
171087
1
0
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
176000
1
0
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
176000
1
0
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
2091738
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
242810
0
1
1
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
217821
2
2
4
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.
10045
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)
456727
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.
188290
48
3
51
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
2091738
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
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
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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
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
qPCR
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_cases-caseREACH000323
N/A
M
ASD
Case from REACH cohort
138475140
138477436
2297
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-caseSSC07006
N/A
M
ASD
Case from SSC_phase2 cohort
138242043
138243049
1007
GRCh38
Deletion
No
chen_17_ASD_discovery_cases-caseU-363
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 7 (past score 13); Qualitative abnormalities in verbal and nonverbal communication, current score 4 (past score 7); Qualitative abnormalities in nonverbal communication, current score 0 (past score 0); Restricted, repetitive, and stereotyped patterns of behaviour, current score 0 (past score 5); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 96; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 30. Epilepsy: no history of epilepsy.
Performance IQ 105, Verbal IQ 104, Full-scale IQ 105
135607837
137699574
2091738
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case4226_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
136259135
136297622
38488
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4366_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
138410154
138478001
67848
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8612_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
136965092
137098799
133708
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
136669376
136850192
180817
GRCh38
Deletion
No
morrow_08_ASD_discovery_cases-case2801
NA
ASD
NA
NA
137736000
137924000
188000
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case5101
NA
ASD
NA
NA
137736000
137924000
188000
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case8501
NA
ASD
NA
NA
137759000
137924000
165000
Unknown
Deletion
No
napoli_17_ASD_discovery_cases-case35
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
137706435
138260625
554191
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case157610
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
138320166
138411592
91427
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case84657
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
138865123
139321849
456727
Unknown
Duplication
No
rosenfeld_10_ASD_discovery_cases-case25525
NA
NA
ASD
NA
NA
138578844
138934880
356036
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11014.p1
9.6
M
Autism
NA
Full-scale IQ, 148; non-verbal IQ, 158; verbal IQ, 113
137809217
137813126
3910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11017.p1
4.3
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11023.p1
10.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 110; verbal IQ, 110
137810555
137813126
2572
GRCh38
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
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11063.p1
9.3
M
Aspergers
NA
Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11093.p1
8.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 76
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11205.p1
7.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 61
137812220
137822172
9953
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11245.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11250.p1
14.8
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
137809217
137813126
3910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11297.p1
12.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11305.p1
14.6
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 35; verbal IQ, 60
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11323.p1
8.6
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11334.p1
14.6
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
137809217
137813126
3910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11367.p1
7.6
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 119; verbal IQ, 119
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11379.p1
5.8
F
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 65; verbal IQ, 78
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11387.p1
8.4
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
137662855
137716262
53408
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11399.p1
11.9
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 100
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11425.p1
9.7
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 104; verbal IQ, 102
137803872
137814682
10811
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11489.p1
10.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 108; verbal IQ, 104
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11506.p1
7
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
137810555
137813126
2572
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
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11521.p1
17.1
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 101; verbal IQ, 128
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11524.p1
15.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 116; verbal IQ, 109
137809217
137813126
3910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11578.p1
5.1
M
ASD
NA
Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11587.p1
12.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
137809217
137813126
3910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11590.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11707.p1
13.5
M
Autism
NA
Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11869.p1
10.1
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
137062668
137069995
7328
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11879.p1
5.3
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 89; verbal IQ, 69
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11939.p1
7.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11982.p1
9.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12060.p1
8.5
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12097.p1
4.8
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
137812220
137813126
907
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12114.p1
16.7
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 85; verbal IQ, 123
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12120.p1
5.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12137.p1
5.9
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
137810555
137822172
11618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12219.p1
7.2
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 136
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12264.p1
8
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12314.p1
6.2
M
ASD
NA
Full-scale IQ, 116; non-verbal IQ, 121; verbal IQ, 103
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12316.p1
12.5
M
ASD
NA
Full-scale IQ, 112; non-verbal IQ, 109; verbal IQ, 114
137809217
137821426
12210
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12351.p1
13.6
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 68; verbal IQ, 37
137812220
137822172
9953
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12420.p1
7.8
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
137810555
137822172
11618
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
137810555
137822172
11618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12510.p1
7.3
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 47
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12616.p1
4.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 113; verbal IQ, 104
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12619.p1
7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
137062668
137069995
7328
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12644.p1
10.7
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
137809217
137818765
9549
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12646.p1
17.8
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 126; verbal IQ, 103
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12722.p1
11.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12859.p1
4.3
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 56; verbal IQ, 40
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12888.p1
5.5
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12975.p1
10.4
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13045.p1
11.1
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 38; verbal IQ, 35
137812220
137813126
907
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13072.p1
15.5
F
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
137062668
137069995
7328
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13162.p1
9.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13266.p1
7.9
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13323.p1
4.7
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 101
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13337.p1
5.1
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
137810555
137821426
10872
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13382.p1
4.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ, 83
137809217
137818765
9549
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
136670280
136841366
171087
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseCLIN27
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
136675004
136851101
176098
GRCh38
Deletion
No
soueid_16_DD/ID_discovery_cases-case9
N/A
N/A
Developmental delay/intellectual disability
136675004
136851101
176098
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case332
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
135607837
137699574
2091738
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case333
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
135607837
137699574
2091738
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-controlSSC06593
N/A
F
Control
Control from SSC cohort
135669371
135912181
242811
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_controls-controlB251101_1007841959
N/A
N/A
Control
No previous psychiatric history
137159380
137197426
38047
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900404_900404
N/A
N/A
Control
No previous psychiatric history
136510745
136564237
53493
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900912_900912
N/A
N/A
Control
No previous psychiatric history
135711284
135929105
217822
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901063_901063
N/A
N/A
Control
No previous psychiatric history
137331793
137500472
168680
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C27075
Control
139740171
139750215
10045
Unknown
Deletion
sanders_11_ASD_discovery_controls-11014.s1
5
M
Control (matched sibling)
NA
NA
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11063.s1
7.3
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11093.s1
9.8
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11229.s1
6.1
M
Control (matched sibling)
NA
NA
136120750
136120791
42
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11245.s1
14.1
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11267.s1
10.3
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11305.s1
18.3
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11323.s1
6.3
F
Control (matched sibling)
NA
NA
137809382
137813126
3745
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11334.s1
12.7
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11367.s1
4.6
F
Control (matched sibling)
NA
NA
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11379.s1
8.3
F
Control (matched sibling)
NA
NA
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11398.s1
13.8
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11425.s1
5.5
F
Control (matched sibling)
NA
NA
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11532.s1
13.5
F
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11578.s1
10.8
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11580.s1
11.8
M
Control (matched sibling)
NA
NA
137062668
137069995
7328
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11590.s1
7.9
F
Control (matched sibling)
NA
NA
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11797.s1
12.2
F
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11879.s1
8.1
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11892.s1
9.1
F
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11939.s1
12.4
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11982.s1
5.1
F
Control (matched sibling)
NA
NA
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12029.s1
12.6
M
Control (matched sibling)
NA
NA
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
137325486
137346538
21053
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12120.s1
7.8
F
Control (matched sibling)
NA
NA
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12187.s1
10.2
F
Control (matched sibling)
NA
NA
137810555
137814682
4128
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12219.s1
11.4
F
Control (matched sibling)
NA
NA
137810555
137822172
11618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12240.s1
6.7
F
Control (matched sibling)
NA
NA
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12325.s1
16.3
F
Control (matched sibling)
NA
NA
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12420.s1
4.7
F
Control (matched sibling)
NA
NA
137810555
137822172
11618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12430.s1
8.3
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12499.s1
9.4
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12579.s1
7.8
F
Control (matched sibling)
NA
NA
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12616.s1
7.6
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12619.s1
4.7
M
Control (matched sibling)
NA
NA
137062668
137069995
7328
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12624.s1
4.1
F
Control (matched sibling)
NA
NA
137810555
137822172
11618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12642.s1
9.3
M
Control (matched sibling)
NA
NA
137062668
137069995
7328
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12642.s1
9.3
M
Control (matched sibling)
NA
NA
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12646.s1
16.5
M
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12691.s1
23.8
M
Control (matched sibling)
NA
NA
136360056
136367696
7641
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12704.s1
6.4
F
Control (matched sibling)
NA
NA
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12836.s1
4.2
M
Control (matched sibling)
NA
NA
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12871.s1
17.4
F
Control (matched sibling)
NA
NA
135671206
135859496
188291
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-12957.s1
13.3
F
Control (matched sibling)
NA
NA
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12975.s1
7.3
F
Control (matched sibling)
NA
NA
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13018.s1
7.9
M
Control (matched sibling)
NA
NA
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13104.s1
8.1
F
Control (matched sibling)
NA
NA
137810555
137818765
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13162.s1
6.7
F
Control (matched sibling)
NA
NA
137812220
137813126
907
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13266.s1
7.9
F
Control (matched sibling)
NA
NA
137810555
137813126
2572
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseREACH000323
PCR or SNP data validation
Paternal
FAM135B
brandler_18_ASD_replication_cases-caseSSC07006
No validation step reported
Paternal
FAM135B
chen_17_ASD_discovery_cases-caseU-363
RT-qPCR
Paternal
MAPRE1P1,RNU1-35P,RNU6-144P,ZYXP1,KHDRBS3,LINC02055
engchuan_15_ASD_discovery_cases-case4226_1
Unknown
LINC02055
engchuan_15_ASD_discovery_cases-case4366_1
Unknown
FAM135B
engchuan_15_ASD_discovery_cases-case8612_201
Unknown
LINC02055
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
LINC02055
morrow_08_ASD_discovery_cases-case2801
Paternal
NA
NA
5' end of ZNF406
morrow_08_ASD_discovery_cases-case5101
Paternal
NA
NA
5' end of ZFAT1
morrow_08_ASD_discovery_cases-case8501
Maternal
NA
NA
3' end of LOC51059
napoli_17_ASD_discovery_cases-case35
RT-PCR
Unknown
FAM135B
prasad_12_ASD_discovery_cases-case157610
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case84657
Unknown
Unknown
Unknown
FAM135B
rosenfeld_10_ASD_discovery_cases-case25525
FISH
Paternal
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11014.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11017.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11023.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11030.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11063.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11079.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11093.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11108.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11205.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11245.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11250.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11297.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11305.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11323.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11334.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11367.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11379.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11387.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11399.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11425.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11489.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11506.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11518.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11521.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11524.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11578.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11587.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11590.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11622.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11707.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11711.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11869.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02055
sanders_11_ASD_discovery_cases-11879.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11939.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11982.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12060.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12097.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12114.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12120.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12137.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12219.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12264.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12314.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12316.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12337.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12351.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12420.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12480.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12510.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12616.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12619.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02055
sanders_11_ASD_discovery_cases-12644.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12646.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12722.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12851.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12859.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12888.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12975.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13045.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13072.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02055
sanders_11_ASD_discovery_cases-13162.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13266.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13323.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13337.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13382.p1
Maternal
Simplex (trio)
NA
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
LINC02055
soueid_16_ASD_discovery_cases-caseCLIN27
Maternal
Simplex
LINC02055
soueid_16_DD/ID_discovery_cases-case9
Unknown
Unknown
Unknown
LINC02055
yin_16_ASD_discovery_cases-case332
Unknown
Unknown
Unknown
MAPRE1P1,RNU1-35P,RNU6-144P,ZYXP1,KHDRBS3,LINC02055
yin_16_ASD_discovery_cases-case333
Unknown
Unknown
Unknown
MAPRE1P1,RNU1-35P,RNU6-144P,ZYXP1,KHDRBS3,LINC02055
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC06593
SNP VCF
De novo
RNU1-35P,LINC02055
engchuan_15_ASD_discovery_controls-controlB251101_1007841959
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900404_900404
Unknown
LINC02055
engchuan_15_ASD_discovery_controls-controlHABC_900912_900912
Unknown
RNU1-35P,LINC02055
engchuan_15_ASD_discovery_controls-controlHABC_901063_901063
Unknown
ZYXP1
nord_11_ASD_discovery_controls-04C27075
COL22A1
sanders_11_ASD_discovery_controls-11014.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11029.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11063.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11093.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11229.s1
Maternal
Simplex (quad)
NA
LINC02055
sanders_11_ASD_discovery_controls-11245.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11267.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11305.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11323.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11334.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11367.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11379.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11398.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11425.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11532.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11578.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11580.s1
Maternal
Simplex (quad)
NA
LINC02055
sanders_11_ASD_discovery_controls-11590.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11797.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11879.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11892.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11939.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11982.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12029.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12033.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12120.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12187.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12219.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12240.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12325.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12420.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12430.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12499.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12579.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12616.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12619.s1
Maternal
Simplex (quad)
NA
LINC02055
sanders_11_ASD_discovery_controls-12624.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12642.s1
Maternal
Simplex (quad)
NA
LINC02055
sanders_11_ASD_discovery_controls-12642.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12646.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12674.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12691.s1
Unknown
Simplex (quad)
NA
LINC02055
sanders_11_ASD_discovery_controls-12704.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12836.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12871.s1
qPCR
De Novo
Simplex (quad)
NA
RNU1-35P,LINC02055
sanders_11_ASD_discovery_controls-12957.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12975.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13018.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13104.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13162.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13266.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available