17p13.1CNV Type: Deletion-Duplication
Largest CNV size: 427267 bp
Statistics Box:
Number of Reports: 29
Number of Reports: 29
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
160000
0
1
1
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
267875
1
0
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
400000
0
1
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
151052
0
1
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
429199
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
846853
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
62188
1
1
2
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
211244
0
1
1
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
236745
1
0
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
17845
1
0
1
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
NA
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.
604563
0
2
2
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
523000
0
5
5
handrigan_13_ASD/DD/ID_discovery_cases
Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
35
22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
Range, 0 mos.-20 yrs.
48.57% Male
4538
0
1
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
2362164
2
5
7
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
101780
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
1428
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
349713
N/A
N/A
16
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
427267
0
1
1
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
210000
0
1
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
10164
1
0
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
7566
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
22275
4
6
10
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
428425
6
4
10
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
422524
25
9
34
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
24086
1
0
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
1300000
1
0
1
xu_08_WAGR/ASD/DD/ID_discovery_cases
Patients with WAGR syndrome and de novo deletions in the 11p14-p12 region previously detected by FISH
31
All 31 patients diagnosed with WAGR syndrome; neurodevelopmental comorbidities within this cohort include intellectual disability, developmental delay, autism, ADHD, seizures, anxiety, obsessive-compulsive behaviors, and speech delay/speech disorder
Range, 3-46 yrs.
45.16% Male
46600
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
38066
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
400000
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
422278
3
4
7
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.
604563
0
0
0
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
NA
NA
NA
NA
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
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
0
0
0
0
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
8725
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
211596
6
2
8
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
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.
422284
1
1
2
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
211598
5
4
9
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)
428425
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.
425884
14
7
21
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
38066
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
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_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
handrigan_13_ASD/DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
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
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
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)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
qPCR
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
xu_08_WAGR/ASD/DD/ID_discovery_cases
N/A
aCGH
Agilent 4x44K, custom Agilent array
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
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
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
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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
bremer_11_ASD_discovery_cases-case24
10
M
ASD
Non-syndromic ASD, familial case
MR (IQ<70)
7484158
7644805
160648
GRCh38
Duplication
Yes
chaves_19_ASD/DD/ID_discovery_cases-case309
N/A
M
Developmental delay and intellectual disability
Short stature, developmental delay, intellectual disability, facial dysmorphism and microcephaly
Intellectual disability
7046188
7314062
267875
GRCh38
Deletion
No
christian_08_ASD_discovery_cases-AU077903
NA
F
ASD
NA
NA
10060716
10457965
397250
GRCh38
Duplication
Yes
cucinotta_23_ASD_discovery_cases-case401
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
8626206
8777257
151052
GRCh38
Duplication
No
davis_09_ASD_discovery_cases-AU028905
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: fused baby teeth
9926566
10355765
429199
Unknown
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_262186
N/A
M
Developmental delay/intellectual disability
7076948
7923801
846854
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case14397_5060
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10622619
10675475
52857
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18121_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10331517
10393705
62189
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0021723
N/A
F
ASD
Family history: mother presents with anxiety.
10300950
10512193
211244
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER258519
N/A
F
Microcephaly and dysmorphic features
Progressive microcephaly; Deeply set eye; Palpebral edema; Short nose; Narrow mouth; Depressed nasal bridge; Full cheeks; Small feet; Short palm; Abnormality of the tragus
7092368
7329113
236746
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU008505
Autism
9966023
9983867
17845
Unknown
Deletion
No
gannon_11_ASD/DD_discovery_cases-patientT
ASD and/or DD
Dysmorphic features: unknown
IQ unknown
NA
NA
NA
Unknown
Duplication
No
girirajan_11_ASD_discovery_cases-Si223
19
F
Autism
ADOS score: NA. Vineland composite score: 59.
No mental retardation/intellectual disability. Full-scale IQ, 120; Verbal IQ, 121; Non-verbal IQ, 125.
10107331
10511148
403818
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si223
19
F
Autism
ADOS score: NA. Vineland composite score: 59.
No mental retardation/intellectual disability. Full-scale IQ, 120; Verbal IQ, 121; Non-verbal IQ, 125.
9984361
10588924
604564
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11444.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
10075958
10515958
440001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13106.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
10085958
10515958
430001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14161.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
10085958
10515958
430001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14376.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
10165958
10685958
520001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU028905
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
10085958
10515958
430001
GRCh38
Duplication
No
handrigan_13_ASD/DD/ID_discovery_cases-patient1
9 yrs.
F
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay), mild language delay, gross and fine motor deficits. Urological abnormalities: bilateral hydronephrosis. Other features: intrauterine growth retardation, bilateral conductive hearing loss following chronic otitis media with perforation of the tympanic membranes requiring the use of hearing aids, bifid uvula, synophrys, up-slanted palpebral fissures, depressed nasal brdige, rounded nasal tip, slightly elongated philtrum, full upper lip, down-turned corners of the mouth, retro-micrognathia, evidence of dental crowding, mild kyphosis with exaggerated lordosis from increased body weight, hyperextensibility of lower extremities, inability to balance on either foot without assistance, cafe-au-lait macule on right thigh. Growth parameters: height <3rd %ile, weight 70th %ile. Family history: parents were second cousins once removed.
9448729
9453267
4539
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001613
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10084941
10502052
417112
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001668
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7478195
8435524
957330
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002236
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10112910
10477423
364514
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003939
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10112910
10477423
364514
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004767
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7750804
10112969
2362166
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005051
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6958978
8335684
1376707
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005109
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7210345
7496934
286590
GRCh38
Deletion
Yes
kousoulidou_13_ASD_discovery_cases-patient6
N/A
M
ASD and ID
ASD
Intellectual disability
10062749
10164530
101782
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11267.p1
N/A
F
ASD
ASD proband from SSC quad family 11267. SRS score of 90.
Full-scale IQ (FSIQ) score of 85.
7355204
7356632
1429
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11206.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
9771487
9772922
1436
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11208.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
10198207
10547920
349714
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11245.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
10448863
10466745
17883
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11267.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
7352942
7356632
3691
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11489.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6756078
6830376
74299
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12137.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
9900988
9959306
58319
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12378.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type:
7846578
7847016
439
GRCh38
N/A
Yes
krumm_15_ASD_discovery_cases-case12636.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
10444603
10453885
9283
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13058.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6756078
6830376
74299
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13106.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
10198207
10547920
349714
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13350.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
7336734
7356632
19899
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13376.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
10444603
10453328
8726
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13655.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
8228179
8231469
3291
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13733.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
10444603
10452506
7904
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14161.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
10301568
10547618
246051
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14412.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
10444603
10453328
8726
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11208.p1
NA
F
ASD
NA
NA
10085133
10512399
427267
GRCh38
Duplication
No
napoli_17_ASD_discovery_cases-case18
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
9134809
9344837
210029
GRCh38
Duplication
Yes
o'roak_12_ASD_discovery_cases-case13733.p1
160 mos.
F
Autism
Case also identified with de novo CHD7 missense mutation, and two de novo synonymous mutations in PGD and CACNA2D2. No regression or loss of language. Borderline range anxiety scores and with no comorbid mental health diagnoses. Normal head circumference and BMI. Vision problems with correction. No hearing deficits. Diagnosis of Tourettes Syndrome at six years. Myringotomy procedure for recurrent problems with otitis media. Diagnosis of respiratory problems but no diagnosis of cardiac or metabolic syndromes. No report of congenital anomalies.
Normative VIQ scores (90) with very low NVIQ scores (68) and adaptive scores (69).
10443374
10453538
10165
GRCh38
Deletion
Yes
pfundt_16_nonNDD_discovery_cases-case43
N/A
N/A
Non-NDD
Disease cohort: complex phenotype. Description: MYH3 deletion
10641084
10648650
7567
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case00HI1228A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU063004; NDAR ID NDAR_INVDY126BYH)
10444602
10452934
8333
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case01HI2157A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU077904; NDAR ID NDAR_INVZM089ZKQ)
10444602
10452934
8333
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case01HI2322A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU027304; NDAR ID NDAR_INVVE717WXZ)
10444602
10452934
8333
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI3571A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1272302; NDAR ID NDAR_INVPG937HCT)
10444602
10454812
10211
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case99HI0671A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU033403; NDAR ID NDAR_INVFP134WLL)
7234067
7253000
18934
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0802A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055504; NDAR ID NDAR_INVXM069XZB)
7230283
7241681
11399
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0807A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
7572840
7583967
11128
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0807A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
7230726
7253000
22275
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0807A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
7309634
7314405
4772
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0868A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU002003; NDAR ID NDAR_INVXV984GE7)
7230726
7246864
16139
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case100573L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
7204550
7211634
7085
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case114094L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
10288578
10297580
9003
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case117480L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
8144434
8155679
11246
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case124475
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
9928794
10357218
428425
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case126173
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
9244628
9255450
10823
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case154264L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
10460917
10631232
170316
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47387
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
8310684
8318441
7758
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case59902L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
10288578
10297580
9003
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case76018L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
9099710
9123136
23427
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-caseL384
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
7680060
7698316
18257
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11002.p1
7.7
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 111; verbal IQ, 80
9438427
9457771
19345
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11142.p1
7.9
M
Autism
NA
Full-scale IQ, 44; non-verbal IQ, 53; verbal IQ, 31
11126268
11132282
6015
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11145.p1
5.9
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 79; verbal IQ 80
11126268
11132282
6015
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11150.p1
7.6
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 67
10988160
10992362
4203
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11199.p1
10.6
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 94; verbal IQ, 81
10988160
10992362
4203
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11208.p1
14.4
F
Autism
NA
Full-scale IQ, 141; non-verbal IQ, 128; verbal IQ, 149
10088270
10498786
410517
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11245.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
10452329
10478504
26176
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11267.p1
13.2
F
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
7354773
7376950
22178
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11339.p1
10
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 62; verbal IQ, 93
10988160
10992719
4560
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11360.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
10988160
10992719
4560
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11376.p1
7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
10988160
10992362
4203
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11444.p1
16.3
F
Aspergers
NA
Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
10988160
10992362
4203
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11444.p1
16.3
F
Aspergers
NA
Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
10086639
10509163
422525
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11512.p1
5.7
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22
10988160
10992362
4203
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11532.p1
9.1
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 65; verbal IQ, 60
7185604
7290249
104646
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11532.p1
9.1
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 65; verbal IQ, 60
7314404
7444065
129662
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11532.p1
9.1
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 65; verbal IQ, 60
7055988
7146880
90893
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
11124191
11132282
8092
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11554.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
10988160
10990482
2323
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11765.p1
11.2
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
7093334
7093521
188
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11765.p1
11.2
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
10988160
10992362
4203
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11793.p1
16.8
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 129
9476430
9484136
7707
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
11126268
11132282
6015
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
9901082
9967915
66834
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12189.p1
8.8
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
11126268
11132282
6015
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12201.p1
13.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
10988160
10992719
4560
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12405.p1
6.3
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99
10988160
10992362
4203
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12423.p1
10.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
10988160
10992362
4203
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
10446273
10453964
7692
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12552.p1
8.7
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 98
8093322
8098685
5364
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12592.p1
8.2
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 119; verbal IQ, 106
11126268
11132282
6015
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12764.p1
15.2
F
ASD
NA
Full-scale IQ, 94; non-verbal IQ, 99; verbal IQ, 86
10442014
10453964
11951
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12785.p1
7.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
11126268
11132282
6015
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13060.p1
6.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
9432752
9438427
5676
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family27_Twin_1
N/A
N/A
ASD/NDD
Case is from a dizygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
10340400
10364485
24086
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case41
M
DD/ID
Hypertelorism, prominent forehead, arched upper lip, micrognathia, flattened nasal bridge, rounded nasal tip, plagiocephaly, short neck, short fingers, cryptorchid testes, hypotonia, speech delay,
7373386
8651571
1278186
GRCh38
Deletion
No
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF24a
16 yrs.
F
WAGR syndrome and ID
Obsessive-compulsive
Intellectual disability
10343771
10390419
46649
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case512
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
8378893
8416958
38066
GRCh38
Duplication
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
engchuan_15_ASD_discovery_controls-controlB256025_1007875987
N/A
N/A
Control
No previous psychiatric history
10331517
10393705
62189
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB900835_1007854372
N/A
N/A
Control
No previous psychiatric history
7608756
7744908
136153
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB964889_1007843494
N/A
N/A
Control
No previous psychiatric history
10090245
10512523
422279
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900315_900315
N/A
N/A
Control
No previous psychiatric history
9353731
9487072
133342
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900401_900401
N/A
N/A
Control
No previous psychiatric history
10320967
10393705
72739
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900592_900592
N/A
N/A
Control
No previous psychiatric history
10325498
10700516
375019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900761_900761
N/A
N/A
Control
No previous psychiatric history
11184577
11285055
100479
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11267.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11267. SRS score of 54.
7355204
7356632
1429
GRCh38
Duplication
No (False Positive)
krumm_13_ASD_discovery_controls-control12480.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12480. SRS score of 36.
10444603
10453328
8726
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11267.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
7352942
7356632
3691
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11355.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
10444603
10453328
8726
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11397.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
10444603
10453328
8726
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12636.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
10444603
10453328
8726
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12787.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
10300950
10512546
211597
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13037.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
10444603
10453885
9283
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13236.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
9772767
9777291
4525
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14412.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
10444603
10453328
8726
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C27275
Control
9929175
10351458
422284
Unknown
Duplication
nord_11_ASD_discovery_controls-04C28230
Control
10171701
10182382
10682
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C30687A
N/A
F
Control
NIMH Control (NIMH ID 36306)
10300951
10512548
211598
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C39410A
N/A
F
Control
NIMH Control (NIMH ID 82981)
7737065
7852338
115274
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C39410A
N/A
F
Control
NIMH Control (NIMH ID 82981)
7230283
7356481
126199
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C39410A
N/A
F
Control
NIMH Control (NIMH ID 82981)
7626445
7655627
29183
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C39410A
N/A
F
Control
NIMH Control (NIMH ID 82981)
7890938
7949159
58222
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C39410A
N/A
F
Control
NIMH Control (NIMH ID 82981)
7512772
7592599
79828
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C41920
N/A
M
Control
NIMH Control (NIMH ID 55831)
10455170
10466747
11578
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41920
N/A
M
Control
NIMH Control (NIMH ID 55831)
10506010
10523668
17659
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41920
N/A
M
Control
NIMH Control (NIMH ID 55831)
10409277
10445148
35872
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11002.s1
10.4
M
Control (matched sibling)
NA
NA
9438427
9457771
19345
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
10548996
10595927
46932
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11142.s1
4.5
F
Control (matched sibling)
NA
NA
11123097
11132282
9186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11245.s1
14.1
M
Control (matched sibling)
NA
NA
10988160
10992362
4203
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11355.s1
5.4
F
Control (matched sibling)
NA
NA
10452329
10453964
1636
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11376.s1
23.8
F
Control (matched sibling)
NA
NA
10988160
10992362
4203
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11401.s1
12.2
F
Control (matched sibling)
NA
NA
10988160
10992362
4203
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11444.s1
19.5
F
Control (matched sibling)
NA
NA
10086639
10512523
425885
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11447.s1
8.4
F
Control (matched sibling)
NA
NA
10988160
10992362
4203
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11512.s1
4.3
F
Control (matched sibling)
NA
NA
10988160
10992362
4203
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11540.s1
14.7
F
Control (matched sibling)
NA
NA
11126268
11132282
6015
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11550.s1
6.6
F
Control (matched sibling)
NA
NA
10988160
10992362
4203
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11557.s1
6.8
M
Control (matched sibling)
NA
NA
10088270
10504239
415970
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
11126268
11132282
6015
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12189.s1
6.7
F
Control (matched sibling)
NA
NA
11126268
11132282
6015
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
10086639
10497205
410567
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12434.s1
8.8
F
Control (matched sibling)
NA
NA
10446273
10454598
8326
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12552.s1
4.2
M
Control (matched sibling)
NA
NA
8093322
8098685
5364
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
10093626
10497205
403580
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12785.s1
16.8
F
Control (matched sibling)
NA
NA
11126268
11132282
6015
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12787.s1
10.8
F
Control (matched sibling)
NA
NA
10086639
10497205
410567
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bremer_11_ASD_discovery_cases-case24
MLPA, FISH
Unknown
NA
NA
TNFSF13,EIF4A1,SNORA48,SNORD10,SNORA67,CD68,SOX15,SAT2,POLR2A,TNFSF12,TNFSF12-TNFSF13,SENP3,SENP3-EIF4A1,MPDU1,SHBG,ZBTB4,FXR2
chaves_19_ASD/DD/ID_discovery_cases-case309
Unknown
RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,CLEC10A,DLG4
christian_08_ASD_discovery_cases-AU077903
FISH, microsatellite
inherited
Multiplex
NA
RPS27AP1,MYH8,MYH4,GAS7,MYH13,MYHAS
cucinotta_23_ASD_discovery_cases-case401
Maternal
CCDC42,SPDYE4,MYH10
davis_09_ASD_discovery_cases-AU028905
Unknown
Unknown
Unknown
MYH13, 8 &4
digregorio_17_DD/ID_discovery_cases-DECIPHER_262186
qPCR
De novo
RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,SLC35G6,TNFSF13,EIF4A1,SNORA48,SNORD10,SNORA67,CD68,SOX15,SAT2,EFNB3,RPL29P2,TMEM88,CYB5D1,SCARNA21,KCNAB3,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,TNK1,NLGN2,FGF11,CHRNB1,POLR2A,TNFSF12,TNFSF12-TNFSF13,SENP3,SENP3-EIF4A1,MPDU1,SHBG,ATP1B2,TP53,WRAP53,KDM6B,CHD3,RNF227,CLEC10A,DLG4,ZBTB4,FXR2,DNAH2,NAA38,ACAP1
engchuan_15_ASD_discovery_cases-case14397_5060
Unknown
MYH3,SCO1,MYHAS
engchuan_15_ASD_discovery_cases-case18121_302
Unknown
MYH8,MYH13,MYHAS
feliciano_19_ASD_discovery_cases-caseSP0021723
Paternal
MYH8,MYH4,MYH1,MYH13,MYHAS
null
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER258519
De novo
Simplex
Segregated
RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,DLG4
gai_11_ASD_replication_cases-AU008505
Inherited
GAS7 (intronic)
gannon_11_ASD/DD_discovery_cases-patientT
Unknown
Unknown
NA
girirajan_11_ASD_discovery_cases-Si223
Unknown
Simplex
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
girirajan_11_ASD_discovery_cases-Si223
Unknown
Simplex
RPS27AP1,MYH8,MYH4,MYH1,MYH2,GAS7,MYH13,MYHAS
girirajan_13a_ASD_discovery_cases-11444.p1
Unknown
Simplex
Unknown
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
girirajan_13a_ASD_discovery_cases-13106.p1
Unknown
Simplex
Unknown
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
girirajan_13a_ASD_discovery_cases-14161.p1
Unknown
Simplex
Unknown
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
girirajan_13a_ASD_discovery_cases-14376.p1
Unknown
Simplex
Unknown
RPS27AP1,MYH8,MYH4,MYH1,MYH2,MYH3,SCO1,GAS7,MYH13,MYHAS
girirajan_13a_ASD_discovery_cases-AU028905
Unknown
Multiplex
Unknown
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
handrigan_13_ASD/DD/ID_discovery_cases-patient1
Unknown
Unknown
Unknown
STX8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001613
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001668
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SLC35G6,TNFSF13,EIF4A1,SNORA48,SNORD10,SNORA67,CD68,SOX15,SAT2,EFNB3,RPL29P2,TMEM88,CYB5D1,SCARNA21,KCNAB3,TRAPPC1,MIR4314,HES7,MIR6883,SNORD118,MIR4521,BORCS6,LINC00324,RANGRF,ARHGEF15,ODF4,RPL26,RNF222,POLR2A,TNFSF12,TNFSF12-TNFSF13,SENP3,SENP3-EIF4A1,MPDU1,SHBG,ATP1B2,TP53,WRAP53,KDM6B,CHD3,RNF227,CNTROB,GUCY2D,ALOX15B,ALOX12B,ALOXE3,PER1,VAMP2,TMEM107,AURKB,CTC1,SLC25A35,KRBA2,NDEL1,ZBTB4,FXR2,DNAH2,NAA38,PFAS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002236
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RPS27AP1,MYH8,MYH4,GAS7,MYH13,MYHAS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003939
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS27AP1,MYH8,MYH4,GAS7,MYH13,MYHAS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004767
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPL29P2,TMEM88,CYB5D1,SCARNA21,KCNAB3,TRAPPC1,MIR4314,HES7,MIR6883,SNORD118,MIR4521,BORCS6,LINC00324,RANGRF,ARHGEF15,ODF4,RPL26,RNF222,RNU7-43P,PPIAP52,SPDYE4,RPL19P18,NPM1P45,RCVRN,KDM6B,CHD3,RNF227,CNTROB,GUCY2D,ALOX15B,ALOX12B,ALOXE3,PER1,VAMP2,TMEM107,AURKB,CTC1,SLC25A35,KRBA2,NDEL1,CCDC42,MFSD6L,PIK3R6,CFAP52,DHRS7C,GSG1L2,DNAH2,NAA38,PFAS,MYH10,PIK3R5,NTN1,USP43,GLP2R,GAS7,STX8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005051
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,SLC16A13,SLC16A11,RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,SLC35G6,TNFSF13,EIF4A1,SNORA48,SNORD10,SNORA67,CD68,SOX15,SAT2,EFNB3,RPL29P2,TMEM88,CYB5D1,SCARNA21,KCNAB3,TRAPPC1,MIR4314,HES7,MIR6883,SNORD118,MIR4521,BORCS6,LINC00324,RANGRF,ARHGEF15,BCL6B,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,TNK1,NLGN2,FGF11,CHRNB1,POLR2A,TNFSF12,TNFSF12-TNFSF13,SENP3,SENP3-EIF4A1,MPDU1,SHBG,ATP1B2,TP53,WRAP53,KDM6B,CHD3,RNF227,CNTROB,GUCY2D,ALOX15B,ALOX12B,ALOXE3,PER1,VAMP2,TMEM107,AURKB,CTC1,SLC25A35,ALOX12-AS1,CLEC10A,DLG4,ZBTB4,FXR2,DNAH2,NAA38,PFAS,ACAP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005109
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,SLC35G6,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,TNK1,NLGN2,FGF11,CHRNB1,POLR2A,DLG4,ZBTB4,ACAP1
kousoulidou_13_ASD_discovery_cases-patient6
qPCR
Paternal
Unknown
Unknown
GAS7
krumm_13_ASD_discovery_cases-case11267.p1
Maternal
Simplex
Not segregated
TMEM95
krumm_15_ASD_discovery_cases-case11206.p1
Illumina 1M
Paternal
Simplex
Segregated
DHRS7C
krumm_15_ASD_discovery_cases-case11208.p1
Illumina 1M
Paternal
Simplex
Segregated
RPS27AP1,MYH8,MYH4,MYH1,MYH2,GAS7,MYH13,MYHAS
krumm_15_ASD_discovery_cases-case11245.p1
Illumina 1M
Maternal
Simplex
Segregated
MYH4,MYHAS
krumm_15_ASD_discovery_cases-case11267.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
KCTD11,TMEM95
krumm_15_ASD_discovery_cases-case11489.p1
Illumina 1M
Paternal
Simplex
Segregated
PRAL,XAF1,FBXO39,TEKT1
krumm_15_ASD_discovery_cases-case12137.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RCVRN,GAS7
krumm_15_ASD_discovery_cases-case12378.p1
aCGH
Paternal
Simplex
KDM6B
krumm_15_ASD_discovery_cases-case12636.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MYH4,MYHAS
krumm_15_ASD_discovery_cases-case13058.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
PRAL,XAF1,FBXO39,TEKT1
krumm_15_ASD_discovery_cases-case13106.p1
1M-Duov3
Paternal
Simplex
Segregated
RPS27AP1,MYH8,MYH4,MYH1,MYH2,GAS7,MYH13,MYHAS
krumm_15_ASD_discovery_cases-case13350.p1
1M-Duov3
Maternal
Simplex
Segregated
KCTD11,TMEM95,ACAP1
krumm_15_ASD_discovery_cases-case13376.p1
1M-Duov3
Maternal
Simplex
Segregated
MYH4,MYHAS
krumm_15_ASD_discovery_cases-case13655.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CTC1
krumm_15_ASD_discovery_cases-case13733.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
MYH4,MYHAS
krumm_15_ASD_discovery_cases-case14161.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
MYH8,MYH4,MYH1,MYH2,MYH13,MYHAS
krumm_15_ASD_discovery_cases-case14412.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MYH4,MYHAS
levy_11_ASD_discovery_cases-11208.p1
Paternal
Simplex
Segregated
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
napoli_17_ASD_discovery_cases-case18
RT-PCR
Paternal
NTN1,STX8
o'roak_12_ASD_discovery_cases-case13733.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
MYH4,MYHAS
pfundt_16_nonNDD_discovery_cases-case43
MYH3
poultney_13_ASD_discovery_cases-case00HI1228A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MYH4,MYHAS
poultney_13_ASD_discovery_cases-case01HI2157A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MYH4,MYHAS
poultney_13_ASD_discovery_cases-case01HI2322A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MYH4,MYHAS
poultney_13_ASD_discovery_cases-case05HI3571A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MYH4,MYHAS
poultney_13_ASD_discovery_cases-case99HI0671A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PHF23,CTDNEP1,DVL2,GABARAP,ELP5
poultney_13_ASD_discovery_cases-case99HI0802A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PHF23,DVL2,GABARAP
poultney_13_ASD_discovery_cases-case99HI0807A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
EIF4A1,SNORA48,SNORD10,SNORA67,CD68,SENP3-EIF4A1,MPDU1
poultney_13_ASD_discovery_cases-case99HI0807A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PHF23,CTDNEP1,DVL2,GABARAP,ELP5
poultney_13_ASD_discovery_cases-case99HI0807A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GPS2,EIF5A
poultney_13_ASD_discovery_cases-case99HI0868A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PHF23,CTDNEP1,DVL2,GABARAP
prasad_12_ASD_discovery_cases-case100573L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case114094L
qPCR
Maternal
Simplex
Not segregated (deletion present in unaffected sibling)
MYH4
prasad_12_ASD_discovery_cases-case117480L
Unknown
Unknown
Unknown
ARHGEF15
prasad_12_ASD_discovery_cases-case124475
Unknown
Simplex
Segregated
MYH1,MYH8,MYH13,GAS7,MYH4
prasad_12_ASD_discovery_cases-case126173
Unknown
Unknown
Unknown
STX8
prasad_12_ASD_discovery_cases-case154264L
Unknown
Unknown
Unknown
MYH3,TMEM220,C17orf48,SCO1
prasad_12_ASD_discovery_cases-case47387
qPCR
Maternal
Unknown
Unknown
MYH10,NDEL1
prasad_12_ASD_discovery_cases-case59902L
qPCR
Maternal
Multiplex
Segregated
MYH4
prasad_12_ASD_discovery_cases-case76018L
Unknown
Unknown
Unknown
STX8
prasad_12_ASD_discovery_cases-caseL384
Unknown
Unknown
Unknown
KDM6B
sanders_11_ASD_discovery_cases-11002.p1
Paternal
Simplex (quad-proband matched)
Not segregated
STX8
sanders_11_ASD_discovery_cases-11142.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11145.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11150.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11199.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11208.p1
Paternal
Simplex (quad-proband matched)
Segregated
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
sanders_11_ASD_discovery_cases-11245.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MYH4,MYHAS
sanders_11_ASD_discovery_cases-11267.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KCTD11,TMEM95
sanders_11_ASD_discovery_cases-11339.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11360.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11376.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11444.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11444.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
sanders_11_ASD_discovery_cases-11512.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11532.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,DVL2,GABARAP,ELP5,YBX2,DLG4
sanders_11_ASD_discovery_cases-11532.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,NEURL4,TMEM95,TNK1,NLGN2,FGF11,ACAP1
sanders_11_ASD_discovery_cases-11532.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
RPL7AP64,ASGR2,CLEC10A
sanders_11_ASD_discovery_cases-11540.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11554.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11765.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11765.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11793.p1
Maternal
Simplex (quad-proband matched)
Not segregated
STX8
sanders_11_ASD_discovery_cases-12009.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12137.p1
Maternal
Simplex (trio)
NA
RCVRN,GAS7
sanders_11_ASD_discovery_cases-12189.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12201.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12405.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12423.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12434.p1
Both parents
Simplex (quad-proband matched)
Not segregated
MYH4,MYHAS
sanders_11_ASD_discovery_cases-12552.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ALOXE3
sanders_11_ASD_discovery_cases-12592.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12764.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MYH4,MYHAS
sanders_11_ASD_discovery_cases-12785.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13060.p1
Paternal
Simplex (trio)
NA
STX8
stamouli_18_ASD/NDD_discovery_cases-family27_Twin_1
Unknown
Simplex
Segregated (CNV not present in unaffected twin)
MYH13
tzetis_12_DD/ID_discovery_cases-case41
De novo
Unknown
PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,SLC35G6,TNFSF13,EIF4A1,SNORA48,SNORD10,SNORA67,CD68,SOX15,SAT2,EFNB3,RPL29P2,TMEM88,CYB5D1,SCARNA21,KCNAB3,TRAPPC1,MIR4314,HES7,MIR6883,SNORD118,MIR4521,BORCS6,LINC00324,RANGRF,ARHGEF15,ODF4,RPL26,RNF222,RNU7-43P,PPIAP52,TNK1,NLGN2,FGF11,CHRNB1,POLR2A,TNFSF12,TNFSF12-TNFSF13,SENP3,SENP3-EIF4A1,MPDU1,SHBG,ATP1B2,TP53,WRAP53,KDM6B,CHD3,RNF227,CNTROB,GUCY2D,ALOX15B,ALOX12B,ALOXE3,PER1,VAMP2,TMEM107,AURKB,CTC1,SLC25A35,KRBA2,NDEL1,ZBTB4,FXR2,DNAH2,NAA38,PFAS,MYH10
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF24a
Maternal
Unknown
MYH8,MYH13,MYHAS
yin_16_ASD_discovery_cases-case512
Unknown
Unknown
Unknown
RPL26,RNF222,NDEL1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB256025_1007875987
Unknown
MYH8,MYH13,MYHAS
engchuan_15_ASD_discovery_controls-controlB900835_1007854372
Unknown
SAT2,EFNB3,SHBG,ATP1B2,TP53,WRAP53,FXR2,DNAH2
engchuan_15_ASD_discovery_controls-controlB964889_1007843494
Unknown
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
engchuan_15_ASD_discovery_controls-controlHABC_900315_900315
Unknown
STX8
engchuan_15_ASD_discovery_controls-controlHABC_900401_900401
Unknown
MYH8,MYH13,MYHAS
engchuan_15_ASD_discovery_controls-controlHABC_900592_900592
Unknown
MYH8,MYH4,MYH1,MYH2,MYH3,SCO1,ADPRM,TMEM220,MYH13,MYHAS
engchuan_15_ASD_discovery_controls-controlHABC_900761_900761
Unknown
SHISA6
krumm_13_ASD_discovery_controls-control11267.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
TMEM95
krumm_13_ASD_discovery_controls-control12480.s1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
MYH4,MYHAS
krumm_15_ASD_discovery_controls-control11267.s1
Illumina 1M
Maternal
KCTD11,TMEM95
krumm_15_ASD_discovery_controls-control11355.s1
Illumina 1M
Paternal
MYH4,MYHAS
krumm_15_ASD_discovery_controls-control11397.s1
Illumina 1M
Maternal
MYH4,MYHAS
krumm_15_ASD_discovery_controls-control12636.s1
Illumina 1MDuo
Maternal
MYH4,MYHAS
krumm_15_ASD_discovery_controls-control12787.s1
Illumina 1MDuo
Maternal
MYH8,MYH4,MYH1,MYH13,MYHAS
krumm_15_ASD_discovery_controls-control13037.s1
1M-Duov3
Paternal
MYH4,MYHAS
krumm_15_ASD_discovery_controls-control13236.s1
Omni2.5-4v1
Paternal
DHRS7C
krumm_15_ASD_discovery_controls-control14412.s1
Omni2.5-4v1
Maternal
MYH4,MYHAS
nord_11_ASD_discovery_controls-04C27275
MYH13,MYH4,MYH8,GAS7,MYH1
nord_11_ASD_discovery_controls-04C28230
MYH13
poultney_13_ASD_discovery_controls-control04C30687A
Unknown
MYH8,MYH4,MYH1,MYH13,MYHAS
poultney_13_ASD_discovery_controls-control05C39410A
Unknown
RPL29P2,KDM6B,DNAH2
poultney_13_ASD_discovery_controls-control05C39410A
Unknown
PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,ACAP1
poultney_13_ASD_discovery_controls-control05C39410A
Unknown
SAT2,SHBG,ATP1B2
poultney_13_ASD_discovery_controls-control05C39410A
Unknown
SCARNA21,KCNAB3,TRAPPC1,CHD3,RNF227,CNTROB
poultney_13_ASD_discovery_controls-control05C39410A
Unknown
TNFSF13,EIF4A1,SNORA48,SNORD10,SNORA67,CD68,SOX15,POLR2A,TNFSF12,TNFSF12-TNFSF13,SENP3,SENP3-EIF4A1,MPDU1,FXR2
poultney_13_ASD_discovery_controls-control05C41920
Unknown
MYH4,MYHAS
poultney_13_ASD_discovery_controls-control05C41920
Unknown
MYH1,MYH2,MYHAS
poultney_13_ASD_discovery_controls-control05C41920
Unknown
MYH8,MYH4,MYHAS
sanders_11_ASD_discovery_controls-11002.s1
Paternal
Simplex (quad)
NA
STX8
sanders_11_ASD_discovery_controls-11073.s1
Maternal
Simplex (quad)
NA
MYH2,MYHAS
sanders_11_ASD_discovery_controls-11142.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11245.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11355.s1
Paternal
Simplex (quad)
NA
MYH4,MYHAS
sanders_11_ASD_discovery_controls-11376.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11401.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11444.s1
Maternal
Simplex (quad)
NA
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
sanders_11_ASD_discovery_controls-11447.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11512.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11540.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11550.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11557.s1
Paternal
Simplex (quad)
NA
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12189.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12198.s1
Maternal
Simplex (quad)
NA
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
sanders_11_ASD_discovery_controls-12434.s1
Both parents
Simplex (quad)
NA
MYH4,MYHAS
sanders_11_ASD_discovery_controls-12552.s1
Maternal
Simplex (quad)
NA
ALOXE3
sanders_11_ASD_discovery_controls-12555.s1
Paternal
Simplex (quad)
NA
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
sanders_11_ASD_discovery_controls-12785.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12787.s1
Maternal
Simplex (quad)
NA
RPS27AP1,MYH8,MYH4,MYH1,GAS7,MYH13,MYHAS
No Animal Model Data Available