11p15.5CNV Type: Deletion-Duplication
Largest CNV size: 78146 bp
Statistics Box:
Number of Reports: 23
Number of Reports: 23
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Global increases in both common and rare copy number load associated with autism.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
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
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
107
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
638271
0
1
1
gavril_23_ASD/ADHD/DD/ID_discovery_cases
Novel cases with 2q37.3 deletions assessed at the Iasi Regional Medical Genetic Center (Iasi, Romania).
9
8/9 cases presented with global developmental delay (DD) and intellectual disability (ID); one case also presented with autism spectrum disorder (ASD), while another case also presented with ADHD.
Range, 2-30 yrs.
33.33% Male
1055165
0
1
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
384530
1
0
1
girirajan_13b_ASD_discovery_cases
Children with autism 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 (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
606120
0
2
2
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
181031
1
1
2
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
67281
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
1226983
2
2
4
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
8546
0
1
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
55958
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
96515
1
4
5
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
22000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
52141
0
1
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
130821
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
55000
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
638272
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
22905
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
34814
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
78146
8
2
10
wenger_16_22q11DS_discovery_cases
Children with 22q11.21 deletion syndrome screened for "second hit" CNVs affecting one or more genes involving in mGluR signlaing
75
All 75 cases diagnosed with 22q11.2 deletion syndrome (22q11DS); 25 of these cases also present with ASD
N/A
N/A
249000
2
0
2
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
49803
1
0
1
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
30627
0
2
2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
153954
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
225435
1
11
12
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
384530
0
0
0
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
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
947598
1
5
6
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
55958
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
96515
0
3
3
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
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)
22905
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.
57679
4
1
5
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
68935
0
2
2
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
49803
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gavril_23_ASD/ADHD/DD/ID_discovery_cases
Romania
MLPA, aCGH
Agilent SurePrint G3 Human ISCA 4x180K
ADM-2
Agilent Genomic CytoGenomics
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 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
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
wenger_16_22q11DS_discovery_cases
N/A
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina HumanHap 550, or Illumina Human610-Quad v1.0
PennCNV
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
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
celestino-soper_11_ASD_discovery_cases-11555
NA
F
ASD
NA
NA
370223
370330
108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16072_1571036001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
391049
1025480
634432
GRCh38
Duplication
No
gavril_23_ASD/ADHD/DD/ID_discovery_cases-case9
12 yrs.
F
Developmental delay, intellectual disability, and seizures
Developmental milestones: moderate global developmental delay/intellectual disability. Motor and musculoskeletal evaluation; brachydactyly (metacarpal/metatarsal 4,5), broad/short thumb. Behavioral/psychiatric evaluation: laughter crises. Epilepsy/seizures: seizures. Dysmorphic features and additional phenotypes: high frontal hairline, medially sparse eyebrows, narrow palpebral fissures, V-shaped nasal tip, hypoplastic alae nasi, smooth philtrum, thin upper lip, craniosynostosis, short neck, wide-set nipples, abnormality of the hands/feet, sacral sinus. Growth parameters: short stature, underweight.
Moderate global developmental delay/intellectual disability
1676931
2732095
1055165
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si302
16
M
Autism
ADOS score: 9. Vineland composite score: 47.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 71; Non-verbal IQ, 82.
862273
1258997
396725
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-48904101700
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
1830720
2436840
606121
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-9505103679
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
1864753
2470438
605686
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case28
2 yrs. 2 mos.
M
Intellectual disability
Microcephaly, seizures, hypertelorism, single transverse palmar crease, syndactyly, congenital heart defect, Hirschsprung disease
Intellectual disability, severe developmental and cognitive delay
2240338
2409567
169230
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case50
4 yrs.
F
Developmental delay/intellectual disability and autism
Autism, Rett syndrome-like phenotype
Developmental delay/intellectual disability
2603436
2784467
181032
GRCh38
Deletion
No
itsara_10_ASD_discovery_cases-HI3469
NA
NA
Autism
NA
NA
589564
656845
67282
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000166
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196966
244236
47271
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004054
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
758848
1998025
1239178
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004133
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1923685
2003319
79635
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004874
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196966
251588
54623
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1491
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
2066031
2074576
8546
Unknown
Duplication
No
krumm_13_ASD_discovery_cases-case11766.p1
N/A
M
ASD
ASD proband from SSC quad family 11766. SRS score of 57.
Full-scale IQ (FSIQ) score of 104.
244040
244469
430
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case11810.p1
N/A
M
ASD
ASD proband from SSC quad family 11810. SRS score of 71.
Full-scale IQ (FSIQ) score of 84.
193099
249057
55959
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11215.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
193099
250865
57767
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11390.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
238997
248855
9859
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11810.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
197560
249057
51498
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13997.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1288623
1295796
7174
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14492.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2299455
2395970
96516
GRCh38
Duplication
Yes
lesca_12_EP_discovery_cases-caseEC73
NA
M
Epilepsy
Phenotype: s-CSWSS. Seizure Characteristics: Nocturnal. Autistic features: No. ADHD features: Yes. Other features: Cortical and subcortical cerebral atrophy. Ichtyosis..
Initial cognitive development: Delayed. Cognitive regression: Yes.
1447761
1469915
22155
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11215.p1
NA
M
ASD
NA
NA
197725
249865
52141
GRCh38
Duplication
No
lintas_17_ASD_discovery_cases-case1.2
10 yrs.
M
Autism
ASD, verbal
766573
897393
130821
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown12
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
196000
251000
55001
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case16072_1571036001
N/A
M
ASD
Autism (autism on ADI-R and ADOS), language delay (first words 42 mo, first phrases 48 mo), verbal; possible lead poisoning at age 2 from house paint (family moved afterwards); no seizures. Family history: both parents unaffected; unaffected sibling not tested.
Below-average IQ (WISC-III at 30 y: VIQ 73, PIQ 87, FSIQ 78)
391049
1025480
634432
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case122692L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2020404
2043308
22905
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
409815
444628
34814
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11215.p1
9.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 114; verbal IQ, 80
174172
252318
78147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11491.p1
7.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
2153244
2202130
48887
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11810.p1
7.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 104
205935
249834
43900
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
2155622
2158083
2462
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12007.p1
8.7
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
2011014
2036417
25404
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12019.p1
9.1
M
ASD
NA
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
2011014
2036417
25404
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12032.p1
10.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
2011014
2036417
25404
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12558.p1
10.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
2375436
2404870
29435
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12597.p1
6.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66
1715434
1726427
10994
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
2011014
2036417
25404
GRCh38
Deletion
No
wenger_16_22q11DS_discovery_cases-case2
N/A
N/A
22q11.2 deletion syndrome and ASD
N/A
N/A
145000
GRCh37
Deletion
No
wenger_16_22q11DS_discovery_cases-case3
N/A
N/A
22q11.2 deletion syndrome and ASD
N/A
N/A
249000
GRCh37
Deletion
No
yin_16_ASD_discovery_cases-case397
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
2593496
2643298
49803
GRCh38
Deletion
No
yuan_23_ASD_discovery_cases-qma01348s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
840123
870749
30627
GRCh38
Duplication
No
yuan_23_ASD_discovery_cases-qma01967s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
533691
563897
30207
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case206760
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): gifted, at risk for LD (written expression)
538479
692432
153954
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-control110036001469_
N/A
N/A
Control
No previous psychiatric history
345515
438662
93148
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036001873_
N/A
N/A
Control
No previous psychiatric history
345515
438662
93148
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB228946_1007854752
N/A
N/A
Control
No previous psychiatric history
742508
967943
225436
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB709920_1007843547
N/A
N/A
Control
No previous psychiatric history
283928
358027
74100
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB771049_1007845881
N/A
N/A
Control
No previous psychiatric history
438662
511805
73144
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900469_900469
N/A
N/A
Control
No previous psychiatric history
199256
276012
76757
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900992_900992
N/A
N/A
Control
No previous psychiatric history
174172
224832
50661
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901241_901241
N/A
N/A
Control
No previous psychiatric history
966181
1025480
59300
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902523_902523
N/A
N/A
Control
No previous psychiatric history
1565248
1718959
153712
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
N/A
N/A
Control
No previous psychiatric history
99874
163208
63335
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902728_902728
N/A
N/A
Control
No previous psychiatric history
198510
254256
55747
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902728_902728
N/A
N/A
Control
No previous psychiatric history
297279
365636
68358
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1039
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
2066031
2087220
21190
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1268
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
1126979
2074576
947598
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split763
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
2066031
2087220
21190
Unknown
Triplication
No
kanduri_15_ASD_discovery_controls-control_split773
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
549119
558884
9766
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split870
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
2066031
2087220
21190
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control11810.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11810. SRS score of 86.
193099
249057
55959
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11810.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
197304
249057
51754
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14247.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
193099
282797
89699
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14492.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
2299455
2395970
96516
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
1397647
1408386
10740
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11571.s1
6.3
F
Control (matched sibling)
NA
NA
1391618
1408386
16769
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11810.s1
4.4
F
Control (matched sibling)
NA
NA
192155
249834
57680
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
2394062
2404870
10809
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12071.s1
19.6
M
Control (matched sibling)
NA
NA
1632215
1633520
1306
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family37_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
607183
617967
10785
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
N/A
N/A
Control
Control is from a dizygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
365161
434095
68935
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11555
Unknown
Simplex
NA
B4GALNT4
engchuan_15_ASD_discovery_cases-case16072_1571036001
Unknown
RN7SL838P,RNH1,HRAS,RASSF7,MIR210HG,MIR210,IRF7,SCT,CEND1,SLC25A22,PANO1,RPLP2,SNORA52,CRACR2B,POLR2L,RNU6-1025P,SIGIRR,ANO9,PTDSS2,LRRC56,LMNTD2,PHRF1,CDHR5,DRD4,EPS8L2,TMEM80,TALDO1,GATD1,PIDD1,PNPLA2,CD151,TSPAN4,CHID1,AP2A2,MUC6,PKP3,DEAF1
gavril_23_ASD/ADHD/DD/ID_discovery_cases-case9
Unknown
CD81,ASCL2,CTSD,TRPM5,C11orf21,IGF2-AS,SYT8,IGF2,INS,H19,KRTAP5-6,IFITM10,MIR483,RPL26P30,INS-IGF2,MIR675,LSP1,KCNQ1,FAM99B,MRPL23-AS1,RPL36AP39,LINC02708,MIR4298,MIR4686,CD81-AS1,LINC01150,MRPL23,MIR7847,PRR33,LINC01219,TNNI2,TNNT3,TH,RNU6-878P,TSSC4,TSPAN32,KCNQ1OT1
girirajan_11_ASD_discovery_cases-Si302
Unknown
Simplex
RNU6-1025P,MIR6744,TSPAN4,CHID1,AP2A2,MUC6,MUC2,MUC5B,MUC5B-AS1,MUC5AC
girirajan_13b_ASD_discovery_cases-48904101700
Unknown
Unknown
Unknown
TNNI2,MIR4298,MIR7847,PRR33,MRPL23-AS1,LINC01219,MIR675,MIR483,INS,TH,MIR4686,ASCL2,C11orf21,RNU6-878P,TSSC4,LSP1,LINC01150,TNNT3,H19,IGF2,INS-IGF2,IGF2-AS,TSPAN32,RPL26P30,CD81,TRPM5,SYT8,MRPL23,CD81-AS1
girirajan_13b_ASD_discovery_cases-9505103679
Unknown
Unknown
Unknown
MIR7847,PRR33,MRPL23-AS1,LINC01219,MIR675,MIR483,INS,TH,MIR4686,ASCL2,C11orf21,RNU6-878P,TSSC4,LSP1,LINC01150,TNNT3,H19,IGF2,INS-IGF2,IGF2-AS,TSPAN32,RPL26P30,CD81,TRPM5,MRPL23,CD81-AS1,KCNQ1
iourov_12_ASD/ID/EP_discovery_cases-case28
Unknown
Unknown
Unknown
ASCL2,C11orf21,RNU6-878P,TSSC4,TSPAN32,RPL26P30,CD81,TRPM5,CD81-AS1
iourov_12_ASD/ID/EP_discovery_cases-case50
Unknown
Unknown
Unknown
COX6CP18,KCNQ1,KCNQ1OT1
itsara_10_ASD_discovery_cases-HI3469
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
IRF7,SCT,PHRF1,CDHR5,DRD4,DEAF1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000166
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004054
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CEND1,SLC25A22,PANO1,RPLP2,SNORA52,CRACR2B,POLR2L,RNU6-1025P,MIR6744,TOLLIP-AS1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-5,FAM99A,FAM99B,KRTAP5-6,RPL36AP39,TNNI2,MIR4298,MIR7847,PRR33,MRPL23-AS1,LINC01219,MIR675,TALDO1,GATD1,PIDD1,PNPLA2,CD151,TSPAN4,CHID1,AP2A2,MUC6,MUC2,MUC5B,MUC5B-AS1,TOLLIP,MOB2,DUSP8,KRTAP5-4,IFITM10,CTSD,LSP1,LINC01150,TNNT3,H19,MUC5AC,BRSK2,KRTAP5-AS1,SYT8,MRPL23
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004133
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MRPL23-AS1,LINC01219,MIR675,TNNT3,H19,MRPL23
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004874
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
kanduri_15_ASD_discovery_cases-case1491
De novo
Unknown
Unknown
Intergenic CNV: nearest genes, H19(dist=46966),IGF2(dist=75771)
krumm_13_ASD_discovery_cases-case11766.p1
Maternal
Simplex
Segregated
PSMD13
krumm_13_ASD_discovery_cases-case11810.p1
Paternal
Simplex
Not segregated
SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
krumm_15_ASD_discovery_cases-case11215.p1
Illumina 1M
Maternal
Simplex
Segregated
SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
krumm_15_ASD_discovery_cases-case11390.p1
Illumina 1M
Maternal
Simplex
Segregated
PSMD13
krumm_15_ASD_discovery_cases-case11810.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
krumm_15_ASD_discovery_cases-case13997.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
TOLLIP
krumm_15_ASD_discovery_cases-case14492.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
C11orf21,RNU6-878P,TSPAN32,RPL26P30,CD81,CD81-AS1
lesca_12_EP_discovery_cases-caseEC73
qPCR
Maternal
Unknown
Unknown
MOB2,BRSK2
levy_11_ASD_discovery_cases-11215.p1
Maternal
Simplex
Segregated
ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
lintas_17_ASD_discovery_cases-case1.2
Validation by visual inspection, RT-PCR, or PCR
De novo
Multiplex
Not segregated (CNV only observed in 1/3 affected siblings)
CEND1,SLC25A22,PANO1,RPLP2,SNORA52,CRACR2B,POLR2L,GATD1,PIDD1,PNPLA2,CD151,TSPAN4,CHID1
maini_18_ASD/DD/ID_discovery_cases-case_unknown12
Maternal
Unknown
Unknown
ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
pinto_14_ASD_discovery_cases2-case16072_1571036001
qPCR
Paternal
Simplex
Unknown (unaffected sibling not tested)
RN7SL838P,RNH1,HRAS,RASSF7,MIR210HG,MIR210,IRF7,SCT,CEND1,SLC25A22,PANO1,RPLP2,SNORA52,CRACR2B,POLR2L,RNU6-1025P,SIGIRR,ANO9,PTDSS2,LRRC56,LMNTD2,PHRF1,CDHR5,DRD4,EPS8L2,TMEM80,TALDO1,GATD1,PIDD1,PNPLA2,CD151,TSPAN4,CHID1,AP2A2,MUC6,PKP3,DEAF1
prasad_12_ASD_discovery_cases-case122692L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
RN7SL838P,SIGIRR,ANO9
sanders_11_ASD_discovery_cases-11215.p1
Maternal
Simplex (quad-proband matched)
Segregated
SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
sanders_11_ASD_discovery_cases-11491.p1
Unknown
Simplex (quad-proband matched)
Segregated
INS,TH,MIR4686,IGF2,INS-IGF2
sanders_11_ASD_discovery_cases-11810.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR6743,BET1L,RIC8A,SIRT3,PSMD13
sanders_11_ASD_discovery_cases-11918.p1
Both parents
Simplex (quad-proband matched)
Not segregated
IGF2,INS-IGF2
sanders_11_ASD_discovery_cases-12007.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12019.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12032.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12558.p1
Maternal
Simplex (trio)
NA
TSSC4,CD81,TRPM5,CD81-AS1
sanders_11_ASD_discovery_cases-12597.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12710.p1
Paternal
Simplex (trio)
NA
wenger_16_22q11DS_discovery_cases-case2
Unknown
HRAS
wenger_16_22q11DS_discovery_cases-case3
Unknown
HRAS
yin_16_ASD_discovery_cases-case397
Unknown
Unknown
Unknown
KCNQ1,KCNQ1OT1
yuan_23_ASD_discovery_cases-qma01348s000
De novo
CHID1,POLR2L,TSPAN4
yuan_23_ASD_discovery_cases-qma01967s000
De novo
LRRC56,HRAS,LMNTD2,LMNTD2-AS1,RASSF7
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case206760
RT-qPCR or WGS
Unknown
RASSF7,MIR210HG,MIR210,IRF7,SCT,LRRC56,LMNTD2,PHRF1,CDHR5,DRD4,DEAF1
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036001469_
Unknown
B4GALNT4,SIGIRR,ANO9,PKP3
engchuan_15_ASD_discovery_controls-control110036001873_
Unknown
B4GALNT4,SIGIRR,ANO9,PKP3
engchuan_15_ASD_discovery_controls-controlB228946_1007854752
Unknown
CEND1,SLC25A22,PANO1,RPLP2,SNORA52,CRACR2B,POLR2L,RNU6-1025P,TALDO1,GATD1,PIDD1,PNPLA2,CD151,TSPAN4,CHID1,AP2A2
engchuan_15_ASD_discovery_controls-controlB709920_1007843547
Unknown
IFITM5,IFITM1,IFITM3,NLRP6,PGGHG,IFITM2
engchuan_15_ASD_discovery_controls-controlB771049_1007845881
Unknown
RN7SL838P,RNH1,ANO9,PTDSS2
engchuan_15_ASD_discovery_controls-controlHABC_900469_900469
Unknown
ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
engchuan_15_ASD_discovery_controls-controlHABC_900992_900992
Unknown
SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3
engchuan_15_ASD_discovery_controls-controlHABC_901241_901241
Unknown
AP2A2,MUC6
engchuan_15_ASD_discovery_controls-controlHABC_902523_902523
Unknown
KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-5,FAM99A,FAM99B,KRTAP5-6,DUSP8,KRTAP5-4,KRTAP5-AS1
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902728_902728
Unknown
ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
engchuan_15_ASD_discovery_controls-controlHABC_902728_902728
Unknown
IFITM5,IFITM1,IFITM3,IFITM2
kanduri_15_ASD_discovery_controls-control_split1039
Unknown
Intergenic CNV: nearest genes, H19(dist=46966),IGF2(dist=63127)
kanduri_15_ASD_discovery_controls-control_split1268
Unknown
BRSK2,CTSD,DUSP8,IFITM10,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LSP1,MOB2,MRPL23,MUC5B,SYT8,TNNI2,TNNT3,TOLLIP
kanduri_15_ASD_discovery_controls-control_split763
Unknown
Intergenic CNV: nearest genes, H19(dist=46966),IGF2(dist=63127)
kanduri_15_ASD_discovery_controls-control_split773
Unknown
C11orf35,LRRC56
kanduri_15_ASD_discovery_controls-control_split870
Unknown
Intergenic CNV: nearest genes, H19(dist=46966),IGF2(dist=63127)
krumm_13_ASD_discovery_controls-control11810.s1
Paternal
Simplex
SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
krumm_15_ASD_discovery_controls-control11810.s1
Illumina 1MDuo
Paternal
ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
krumm_15_ASD_discovery_controls-control14247.s1
Omni2.5-4v1
De novo
SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13,NLRP6
krumm_15_ASD_discovery_controls-control14492.s1
Omni2.5-4v1
Paternal
C11orf21,RNU6-878P,TSPAN32,RPL26P30,CD81,CD81-AS1
sanders_11_ASD_discovery_controls-11439.s1
Both parents
Simplex (quad)
NA
BRSK2
sanders_11_ASD_discovery_controls-11571.s1
Both parents
Simplex (quad)
NA
BRSK2
sanders_11_ASD_discovery_controls-11810.s1
Paternal
Simplex (quad)
NA
SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
sanders_11_ASD_discovery_controls-11986.s1
Both parents
Simplex (quad)
NA
TSSC4,CD81,TRPM5
sanders_11_ASD_discovery_controls-12071.s1
Unknown
Simplex (quad)
NA
stamouli_18_ASD/NDD_discovery_controls-family37_Twin_1
Unknown
N/A (both twins typically developing)
IRF7,PHRF1,CDHR5
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
Unknown
N/A (both twins typically developing)
B4GALNT4,SIGIRR,ANO9,PKP3
No Animal Model Data Available