Xq21.31CNV Type: Deletion-Duplication
Largest CNV size: 555503 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Duplication
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
6250
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
782064
2
7
9
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
72136
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
791660
2
1
3
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
143151
0
1
1
melchior_13_TS/ADHD/OCD_discovery_cases
Three affected brothers from a family with Tourette syndrome and comorbidities
3
Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria in all three cases; two cases with additional diagnoses of OCD, one case with additional diagnosis of ADHD
N/A
Male
732000
0
3
3
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
22250
1
0
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
87020
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
142745
1
3
4
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
555503
13
1
14
speevak_11_DD_discovery_cases
Patient referred to genetics clinic (Dept. of Genetics & Laboratory Medicine, Credit Valley Hospital, Ontario, Canada) for non-syndromic speech delay
1
Developmental delay (non-syndromic significant speech delay). Differential diagnosis of ASD ruled out by psychiatric assessment at 3.5 yrs., but no specific diagnosis suggested.
4.5 yrs.
Male
220000
1
0
1
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
222958
1
1
2
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
451811
0
2
2
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
2700000
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
334999
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
1722532
7
5
12
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
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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.
22250
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)
142745
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.
84707
21
1
22
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
222958
1
0
1
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
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
melchior_13_TS/ADHD/OCD_discovery_cases
Denmark
Array SNP, qPCR
Affymetrix CytoScan HD
Affymetrix ChAS
qPCR
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
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
speevak_11_DD_discovery_cases
NA
aCGH
CytoChip 105K array
BlueFuse Multi
FISH, microsatellite, PCR
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
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)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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-case1032
N/A
M
ASD
Case from REACH cohort
88203500
88209749
6250
GRCh38
Duplication
No (false positive)
engchuan_15_ASD_discovery_cases-case14197_3210
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
90842794
90991677
148884
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20103_1473001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
91913327
92095162
181836
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20151_1636001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
91829086
92133350
304265
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3586_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87835596
88602646
767051
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5257_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
91749294
92164356
415063
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5415_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
88910868
89475308
564441
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5515_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
91785631
92164356
378726
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5515_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89214794
89996858
782065
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8475_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87294969
87432207
137239
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case565-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
91562397
91634533
72137
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004660
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
90075089
90598975
523887
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005193
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
88378629
89096387
717759
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005280
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
88829694
89621356
791663
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-MM0020-004
NA
M
ASD
NA
NA
88390904
88534054
143151
GRCh38
Duplication
Yes
melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-2
N/A
M
TS and OCD
Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria. Additional diagnosis of obsessive-compulsive disorder (OCD). Family history: younger brothers with Tourette syndrome, OCD, and ADHD (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-4) and Tourette syndrome (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-3) , mother with subclinical ADHD, father with subclinical OCD, family history of subclinical OCD and obsessive-compulsive behavior on maternal and paternal sides, and of tics on maternal side.
90677266
91409681
732000
Unknown
Duplication
No
melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-3
8.5 yrs.
M
TS
Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria. Case started to have tics at age of 6 years 10 months; symptoms of sleeping disturbances and depression, but no symptoms of ADHD, OCD, rage attacks, seasonal affective disorder,or stuttering; did not receive any medical treatment. Family history: monozygotic twin brother with Tourette syndrome, OCD, and ADHD (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-4), older brother with Tourette syndrome and OCD (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-2), mother with subclinical ADHD, father with subclinical OCD, family history of subclinical OCD and obsessive-compulsive behavior on maternal and paternal sides, and of tics on maternal side.
Full scale IQ of 80; attending a normal school without any educational support.
90677266
91409681
732000
Unknown
Duplication
No
melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-4
8.5 yrs.
M
TS, ADHD, and OCD
Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria. Additional diagnoses of obsessive-compulsive disorder (OCD) and ADHD. Case started to have tics at age of 7.5 years (total tic store at age of 8.5 years); methylphenidate treatment initiated at age of 8 years for ADHD symptoms; case also had OCD and rage attacks, did not have seasonal affective disorder, depression, sleeping disturbances, or stuttering. Family history: monozygotic twin brother with Tourette syndrome (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-3), older brother with Tourette syndrome and OCD (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-2), mother with subclinical ADHD, father with subclinical OCD, family history of subclinical OCD and obsessive-compulsive behavior on maternal and paternal sides, and of tics on maternal side.
Full scale IQ of 82; received special educational support in school.
90677266
91409681
732000
Unknown
Duplication
Yes
nord_11_ASD_discovery_cases-223-1
ASD
88039568
88061817
22250
Unknown
Deletion
No
oikonomakis_16_ASD_discovery_cases-case4
4 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, behavioral problems, hyperactivity, atrophy of hippocampus on MRI
91783451
91870472
87022
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case126173
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
86873819
86961602
87784
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case165455L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
86676382
86719620
43239
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case165455L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
86370227
86427222
56996
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47838
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
87538811
87681555
142745
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11252.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
88902080
88910967
8888
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11440.p1
8.2
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
90145663
90209180
63518
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11446.p1
8.3
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
88424986
88431940
6955
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11660.p1
5
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 63
90634786
90702917
68132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11676.p1
7.1
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
90202351
90230370
28020
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
90449354
90865709
416356
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
89441355
89996858
555504
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12300.p1
7.3
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 102
88902080
88910967
8888
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12360.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
88424986
88431940
6955
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12403.p1
11.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
88424986
88431940
6955
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12434.p1
5.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106
88902080
88910967
8888
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12521.p1
7.2
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
88305609
88315806
10198
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12647.p1
6.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 81
88902080
88910967
8888
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13031.p1
5.1
F
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
89365562
89421635
56074
GRCh38
Deletion
No
speevak_11_DD_discovery_cases-case1
4.5 yrs.
M
Developmental delay/speech delay
Developmental milestones: significant speech delay (first words at 2 yrs.; at 4.5 yrs., patient was only able to use a few words in a sentence, which were not easily understood). Behavioral characteristics: aggressive behavior, autistic traits (spitting and rocking with excessive hand movements and solitary play noted at 3.5 yrs.; however, a differential diagnosis of ASD ruled out by psychiatric assessment at the time, but no specific diagnosis was suggested). Dysmorphic features: no major dysmorphic or congenitally abnormal features, other than mild 2-3 toe syndactyly. Growth parameters: height, 90th %ile; wieght, 50th %ile; head circumference, 10th %ile.
91870238
92134489
264252
GRCh38
Deletion
Yes
stamouli_18_ASD/NDD_discovery_cases-family46_Twin_2
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
88192619
88304625
112007
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family53_Twin_2
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
88142419
88365376
222958
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
89814439
89996858
182420
GRCh38
Duplication
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
89456093
89907903
451811
GRCh38
Duplication
No
xu_16_ASD/DD/ID_discovery_cases-case32
N/A
N/A
ASD
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis). Note: CNV position in this report given as RP11-192B18 (chrX:86,116,369-86,288,215,hg17).
N/A
N/A
2700000
NCBI35
Duplication
No
yuen_17_ASD_discovery_cases-case7-0162-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
91560002
91895001
335000
GRCh38
Duplication
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
engchuan_15_ASD_discovery_controls-control110036016566_
N/A
N/A
Control
No previous psychiatric history
89214794
90937326
1722533
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB256025_1007875987
N/A
N/A
Control
No previous psychiatric history
89189020
90025883
836864
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB313016_1007842089
N/A
N/A
Control
No previous psychiatric history
88567199
88665951
98753
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB437078_1007874489
N/A
N/A
Control
No previous psychiatric history
91405977
92125143
719167
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB437078_1007874489
N/A
N/A
Control
No previous psychiatric history
89189020
90025883
836864
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB505135_1007854094
N/A
N/A
Control
No previous psychiatric history
89197215
90008035
810821
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB567421_1007848476
N/A
N/A
Control
No previous psychiatric history
91046495
91088316
41822
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB772514_1007874267
N/A
N/A
Control
No previous psychiatric history
89189020
90025883
836864
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB853244_1007844851
N/A
N/A
Control
No previous psychiatric history
89048572
89996858
948287
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB874843_1007854362
N/A
N/A
Control
No previous psychiatric history
89197215
89996858
799644
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB932732_1007844759
N/A
N/A
Control
No previous psychiatric history
91793963
92201459
407497
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900558_900558
N/A
N/A
Control
No previous psychiatric history
91829086
92133350
304265
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27412
Control
88039568
88061817
22250
Unknown
Deletion
sanders_11_ASD_discovery_controls-11190.s1
6.8
F
Control (matched sibling)
NA
NA
89925042
89941748
16707
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11220.s1
13.6
F
Control (matched sibling)
NA
NA
90981954
91023427
41474
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11367.s1
4.6
F
Control (matched sibling)
NA
NA
90108648
90183283
74636
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11440.s1
12.5
F
Control (matched sibling)
NA
NA
90145663
90230370
84708
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11568.s1
16.7
F
Control (matched sibling)
NA
NA
90915363
90999190
83828
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11620.s1
15.1
F
Control (matched sibling)
NA
NA
90202351
90230370
28020
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11676.s1
4.3
F
Control (matched sibling)
NA
NA
90202351
90230370
28020
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
88304625
88315806
11182
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11928.s1
14.1
M
Control (matched sibling)
NA
NA
88902080
88910967
8888
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12048.s1
10.3
F
Control (matched sibling)
NA
NA
88291759
88372009
80251
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
90634786
90653137
18352
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12106.s1
10.9
F
Control (matched sibling)
NA
NA
90638915
90653137
14223
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12189.s1
6.7
F
Control (matched sibling)
NA
NA
88942025
88969548
27524
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
88075093
88081487
6395
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12363.s1
21.9
M
Control (matched sibling)
NA
NA
88902080
88910967
8888
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12377.s1
20.6
F
Control (matched sibling)
NA
NA
88304625
88372009
67385
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12434.s1
8.8
F
Control (matched sibling)
NA
NA
88902080
88910967
8888
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12578.s1
8.8
F
Control (matched sibling)
NA
NA
90202351
90230370
28020
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12647.s1
9.1
M
Control (matched sibling)
NA
NA
88902080
88910967
8888
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12681.s1
12.8
F
Control (matched sibling)
NA
NA
88305609
88369723
64115
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12907.s1
9.8
F
Control (matched sibling)
NA
NA
91545746
91596871
51126
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
88305609
88369723
64115
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family53_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
88142419
88365376
222958
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-case1032
SNP VCF
Unknown
engchuan_15_ASD_discovery_cases-case14197_3210
Unknown
engchuan_15_ASD_discovery_cases-case20103_1473001
Unknown
VDAC1P3,PCDH11X
engchuan_15_ASD_discovery_cases-case20151_1636001
Unknown
VDAC1P3,EIF4A1P10,PCDH11X
engchuan_15_ASD_discovery_cases-case3586_3
Unknown
engchuan_15_ASD_discovery_cases-case5257_3
Unknown
RNU2-26P,VDAC1P3,EIF4A1P10,PCDH11X
engchuan_15_ASD_discovery_cases-case5415_3
Unknown
SRIP2
engchuan_15_ASD_discovery_cases-case5515_3
Unknown
RNU2-26P,VDAC1P3,EIF4A1P10,PCDH11X
engchuan_15_ASD_discovery_cases-case5515_3
Unknown
SRIP2,TGIF2LX
engchuan_15_ASD_discovery_cases-case8475_202
Unknown
gazzellone_14_ASD_discovery_cases-case565-3
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004660
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
USP12PX,UBE2V1P9,RNU6-555P,RNF19BPX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005193
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CPXCR1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005280
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SRIP2
marshall_08_ASD_discovery_cases-MM0020-004
qPCR, qmPCR
Unknown
NA
NA
melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-2
Maternal
Multiplex
Segregated (CNV segregates with Tourette syndrome)
PABPC5, PCDH11X
melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-3
Maternal
Multiplex
Segregated (CNV segregates with Tourette syndrome)
PABPC5, PCDH11X
melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-4
qPCR
Maternal
Multiplex
Segregated (CNV segregates with Tourette syndrome)
PABPC5, PCDH11X
nord_11_ASD_discovery_cases-223-1
Maternal
0 genes
oikonomakis_16_ASD_discovery_cases-case4
De novo
RNU2-26P,PCDH11X
prasad_12_ASD_discovery_cases-case126173
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case165455L
Unknown
Unknown
Unknown
KLHL4
prasad_12_ASD_discovery_cases-case165455L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case47838
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11252.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11440.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11446.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11660.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11676.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNF19BPX
sanders_11_ASD_discovery_cases-11794.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RNU6-555P
sanders_11_ASD_discovery_cases-11794.p1
Unknown
Simplex (quad-proband matched)
Segregated
TGIF2LX
sanders_11_ASD_discovery_cases-12300.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12360.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12403.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12434.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12521.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12647.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13031.p1
Both parents
Simplex (trio)
NA
SRIP2
speevak_11_DD_discovery_cases-case1
FISH, microsatellite, PCR
Maternal
NA
NA
VDAC1P3,EIF4A1P10,PCDH11X
stamouli_18_ASD/NDD_discovery_cases-family46_Twin_2
Unknown
Multiplex
Not segregated (CNV not present in affected twin)
stamouli_18_ASD/NDD_discovery_cases-family53_Twin_2
Unknown
Simplex
Not segregated (CNV also present in unaffected twin)
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
TGIF2LX
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
xu_16_ASD/DD/ID_discovery_cases-case32
Maternal
CNV gene content N/A (CNV start and end points N/A)
yuen_17_ASD_discovery_cases-case7-0162-003
Affymetrix CytoScan HD
Unknown
Simplex
Unknown
SERBP1P4,RNU2-26P,PCDH11X
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036016566_
Unknown
SRIP2,TGIF2LX,USP12PX,UBE2V1P9,RNU6-555P,RNF19BPX
engchuan_15_ASD_discovery_controls-controlB256025_1007875987
Unknown
SRIP2,TGIF2LX
engchuan_15_ASD_discovery_controls-controlB313016_1007842089
Unknown
engchuan_15_ASD_discovery_controls-controlB437078_1007874489
Unknown
PABPC5,SERBP1P4,RNU2-26P,VDAC1P3,EIF4A1P10,PABPC5-AS1,PCDH11X
engchuan_15_ASD_discovery_controls-controlB437078_1007874489
Unknown
SRIP2,TGIF2LX
engchuan_15_ASD_discovery_controls-controlB505135_1007854094
Unknown
SRIP2,TGIF2LX
engchuan_15_ASD_discovery_controls-controlB567421_1007848476
Unknown
engchuan_15_ASD_discovery_controls-controlB772514_1007874267
Unknown
SRIP2,TGIF2LX
engchuan_15_ASD_discovery_controls-controlB853244_1007844851
Unknown
SRIP2,TGIF2LX
engchuan_15_ASD_discovery_controls-controlB874843_1007854362
Unknown
SRIP2,TGIF2LX
engchuan_15_ASD_discovery_controls-controlB932732_1007844759
Unknown
RNU2-26P,VDAC1P3,EIF4A1P10,PCDH11X
engchuan_15_ASD_discovery_controls-controlHABC_900558_900558
Unknown
VDAC1P3,EIF4A1P10,PCDH11X
nord_11_ASD_discovery_controls-04C27412
0 genes
sanders_11_ASD_discovery_controls-11190.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11220.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11367.s1
Unknown
Simplex (quad)
NA
USP12PX
sanders_11_ASD_discovery_controls-11440.s1
Maternal
Simplex (quad)
NA
RNF19BPX
sanders_11_ASD_discovery_controls-11568.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11620.s1
Paternal
Simplex (quad)
NA
RNF19BPX
sanders_11_ASD_discovery_controls-11676.s1
Paternal
Simplex (quad)
NA
RNF19BPX
sanders_11_ASD_discovery_controls-11798.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11928.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12048.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12060.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12106.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12189.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12231.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12363.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12377.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12434.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12578.s1
Maternal
Simplex (quad)
NA
RNF19BPX
sanders_11_ASD_discovery_controls-12647.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12681.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12907.s1
Both parents
Simplex (quad)
NA
SERBP1P4
sanders_11_ASD_discovery_controls-13233.s1
Unknown
Simplex (quad)
NA
stamouli_18_ASD/NDD_discovery_controls-family53_Twin_1
Unknown
Simplex
No Animal Model Data Available