18q23CNV Type: Deletion-Duplication
Largest CNV size: 425091 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
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Duplication
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
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
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Brief report: peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome.
Duplication
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bartnik_12_EP_discovery_cases
102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
102
Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
NA
NA
535000
0
1
1
bena_13_ASD/DD/ID_discovery_cases
Previously unreported individuals with NRXN1 exonic deletions recruited as part of a multicenter study
25
Diagnosis of ASD in 65% of cases (diagnostic tools N/A). Other recurrent diagnoses: intellectual disability (91%), language delay (81%), seizures (43%), and hypotonia (38%).
Range, 5-59 yrs.
76.0% Male
900000
0
4
4
bitar_19_ASD_discovery_cases
ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
19
Cases diagnosed with ASD using DSM-IV criteria and CARS
N/A
84.21% Male
3581000
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
9750
0
1
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
60948
0
2
2
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
1584933
2
2
4
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
920164
0
1
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
264562
1
1
2
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.
402902
0
1
1
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
838000
0
2
2
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
354599
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
4384049
4
2
6
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
420730
0
3
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
420730
1
6
7
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
425091
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
2000000
1
0
1
mazzone_12_MR/ASD_discovery_cases
Unrelated patients with brachidactyly-mental retardation (BDMR) syndrome that were referred for developmental delay and social, behavioral, facial, & physical abnormalities and were subsequently diagnosed with autism/ASD that progressively improved over time.
2
Mental retardation (MR) and autism/ASD. Primary diagnosis of brachidactyly-mental retardation (BDMR) syndrome. Additional diagnosis of autism/ASD based on ADI-R, ADOS, and CARS scales and meeting DSM-IV-TR criteria. One patient with additional diagnosis of epilepsy/seizures. Both patients demonstrated progressive decrease in ASD symptoms and behaviors over time.
Range, 8-9 yrs.
50% Male
2600000
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
81181
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
204395
1
0
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
1584934
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
14575
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
424541
18
13
31
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
1083000
0
1
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
117782
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
1587887
4
8
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.
1582546
1
0
1
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
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
311263
0
2
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
227100
0
1
1
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
800000
0
1
1
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.
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)
14575
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.
200805
13
4
17
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
117782
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bartnik_12_EP_discovery_cases
Poland
aCGH
Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
BCM web-based software, IMiD-web2py
None
bena_13_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Agilent 244K, Agilent 105K, Agilent 180K, OGT custom design 180K, Affymetrix 250K NspI, Affymetrix 250K, Affymetrix Cyto-2.7 M, Illumina 12-330K
MLPA
bitar_19_ASD_discovery_cases
Lebanon
aCGH
Agilent SurePrint G3 2x400K
ADM-2
Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
qPCR
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
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
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mazzone_12_MR/ASD_discovery_cases
NA
aCGH
Agilent 44A
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
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
egger_14_ASD_discovery_controls
European
N/A
N/A
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
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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)
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
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
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
bartnik_12_EP_discovery_cases-case17
NA
F
Epilepsy
Age of onset of epilepsy: 7 years. Seizure types/epilepsy syndrome: epilepsy with generalized tonic-clonic seizures (GTCS) and continuous spikes and waves during slow wave sleep (CSWS). Visual spatialagnosia. Parental phenotype: normal.
Normal IQ
78995025
79529880
534856
GRCh38
Duplication
No
bena_13_ASD/DD/ID_discovery_cases-case14
10 yrs.
M
Developmental delay/intellectual disability
Motor developmental delay, language delay, normal growth and OFC. Older brother (bena_13_ASD/DD/ID_discovery_cases-case15) also carries 2p16.3/NRXN1 deletion and 18q23 triplication.
Intellectual disability
77059056
77859056
800001
GRCh38
Triplication
Yes
bena_13_ASD/DD/ID_discovery_cases-case15
11 yrs.
M
Developmental delay/intellectual disability
Motor developmental delay, language delay, normal growth and OFC, hyperactivity. Younger brother (bena_13_ASD/DD/ID_discovery_cases-case14) also carries 2p16.3/NRXN1 deletion and 18q23 triplication.
Intellectual disability
77059056
77859056
800001
GRCh38
Triplication
Yes
bitar_19_ASD_discovery_cases-case91
N/A
M
ASD and epilepsy
Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: fear, anxiety, self-injurious behavior. Epilepsy/seizures: epilepsy. Additional medical history: deafness. Family history: born to consanguineous parents (first degree cousins); history of diabetes on both sides of the family, as well as hypertension, high cholesterol, and cardiac disease on the paternal side of the family. Note: CNV result of probable parental translocation.
76716654
80252149
3535496
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseREACH000586
N/A
M
ASD
Case from REACH cohort
79857151
79866900
9750
GRCh38
Duplication
Yes
egger_14_ASD_discovery_cases-caseA144
30 yrs. (born 1984)
M
ASD
Diagnosis: Asperger syndrome. Co-morbidities/additional features: psychosis; obesity (BMI 26.3). Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Low-normal IQ
80034810
80097877
63068
GRCh38
Duplication
Yes
egger_14_ASD_discovery_cases-caseA153
19 yrs. (born 1995)
M
ASD
Diagnosis: early infantile autism. Co-morbidities/additional features: not determined. Family history: not determined. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Cognitive impairment
80034810
80097877
63068
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case14064_1110
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79761740
79793173
31434
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14235_2490
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79068514
79291461
222948
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14331_4450
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
76244280
77829212
1584933
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case8411_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
77271099
77385138
114040
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1374302
Autism
73922248
74842411
920164
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU075308
Autism
74949343
75213904
264562
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU081904
Autism
75549029
75749206
200178
Unknown
Duplication
No
girirajan_11_ASD_discovery_cases-Si194
9
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 104; Non-verbal IQ, 87.
79829543
80234559
405017
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13508.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
77099056
77929056
830001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13518.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
77029056
77329056
300001
GRCh38
Duplication
No
guo_18_ASD/DD/ID_discovery_cases-caseBK-381-03
N/A
M
ASD and intellectual disability
Neural tube defect
Intellectual disability (FSIQ 57, NVIQ 65, VIQ 55)
80018801
80373400
354600
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001232
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
78869005
80252149
1383145
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002037
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
79475881
79766196
290316
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004154
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
75843868
80209986
4366119
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004260
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
78892487
80209986
1317500
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004303
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
77032666
77548627
515962
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005395
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
77032666
77675655
642990
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11356.p1
N/A
F
ASD
ASD proband from SSC quad family 11356. SRS score of 90.
Full-scale IQ (FSIQ) score of 72.
79710345
80133192
422848
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.
79903975
80247348
343374
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13508.p1
N/A
M
ASD
ASD proband from SSC quad family 13508. SRS score of 63.
Full-scale IQ (FSIQ) score of 96.
77105210
77268902
163693
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11356.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
79710345
80133192
422848
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11685.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
79695224
79729069
33846
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11810.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
79903975
80138809
234835
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12618.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
77250548
77268902
18355
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13494.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
79176812
79348196
171385
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13508.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
77105210
77268902
163693
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13518.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
77016813
77268902
252090
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11356.p1
NA
F
ASD
NA
NA
79703576
80130780
427205
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case53
5 yrs.
F
Developmental delay and intellectual disability
Birth history: born at 41 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay, language delay. Language and communication evaluation: language disorder. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: cerebral malformations, neurological anomalies, ocular anomalies, skin anomalies. Dysmorphic features: straight eyebrows, long eyelashes, anteverted nares. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
Mild intellectual disability
76216682
78267409
2050728
GRCh38
Deletion
No
mazzone_12_MR/ASD_discovery_cases-patient1
9 yrs.
M
Autism + mental retardation
Primary diagnosis of brachidactyly-mental retardation (BDMR) syndrome. Developmental milestones: delay in early motor and language milestones. Diagnosis of autism at 4 yrs. of age (met ADI-R, ADOS, and DSM-IV criteria; CARS score of 46). Autistic symptoms at time of first evaluation (at age of 4 yrs.): impairment in social interaction with abnormal eye-to-eye contact, lack of spontaneous seeking to share enjoyment or interests with other people (i.e. interest in simple social games), and repetitive motor mannerisms with a restricted pattern of interests and an apparently inflexible adherence to specific non-functional routines or rituals (persistent fascination for circular objects); disruptive behavior, self-injury, aggression, hyperactivity and tantrums, also present. Progressive decrease of ASD symptoms and behaviors observed in subsequent evaluations. ADI-R social interaction scores (age at testing): 24 (4 yrs); 15 (5 yrs); 12 (6 yrs); 6 (7 yrs). ADI-R communication scores (age at testing): 12 (4 yrs); 9 (5 yrs); 7 (6 yrs); 6 (7 yrs). ADI-R repetitive behavior scores (age at testing): 6 (4 yrs); 5 (5 yrs); 4 (6 yrs); 3 (7 yrs). ADOS language and communication scores (age at testing): 9 (4 yrs); 6 (5 yrs); 4 (6 yrs); 2 (7 yrs). ADOS social interaction scores (age at testing): 14 (4 yrs); 10 (5 yrs); 8 (6 yrs); 5 (7 yrs). ADOS total scores (age at testing): 23 (4 yrs); 16 (5 yrs); 12 (6 yrs); 7 (7 yrs). CARS total scores (age at testing): 46 (4 yrs; severe autism); 35 (5 yrs); 32 (6 yrs; mild-moderate autism); 30 (7 yrs). DSM-IV-TR diagnosis at 6 yrs of PDD-NOS. Dysmorphic features: frontal bossing with forehead narrowing, deep-set eyes, strabismus, narrow palpebral fissures, thin arched and laterally displaced eyebrows, nose with depressed root, hypoplastic alae and bulbous tip, flat philtrum, thin upper lip, small and low set ears, short neck, slight brachydactyly of the III-IV metacarpal bones. Musculoskeletal features: joint hyperlaxity, truncal hypotonia, kyphoscoliosis, ataxia, clumsiness. Nasal voice. Treatment: matched treatment focused primarily on speech & psychomotory therapy; supplementary cognitive-behavioral therapy; received Picture Exchange Communication System (PECS) to improve communication skills; no pharmacological treatment.
Mental retardation; Leiter IQ scores (age at testing): 40 (6 yrs.); 40 (7 yrs.); 42 (9 yrs.)
77508141
80258298
2750158
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-225-1
ASD
75995044
76076224
81181
Unknown
Duplication
No
o'roak_12_ASD_discovery_cases-case13494.p1
NA
F
ASD/Autism
Case also identified with de novo NOLC1 missense mutation. No additional clinical info available.
High IQ. Non verbal IQ, 93
79143801
79348196
204396
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case14331_4450
5 yrs. 9 mos.
M
ASD
Autism on ADI-R and ADOS, language delay, verbal, no dysmorphic features except for slight epicanthus, no other anomalies, normal neurological exam, normal growth, no epilepsy, high plasma lactate. No phenotypic overlap with 18q deletion syndrome. Family history: both parents unaffected, negative family history.
Low normal IQ (Griffiths at 5 y 9 mo: language DQ 84, performance DQ 81, global DQ 82).
76244280
77829212
1584933
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case84319
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
71345380
71359954
14575
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11115.p1
13.8
F
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
78397746
78400008
2263
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11144.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
78397746
78400008
2263
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11347.p1
15.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
78397746
78400008
2263
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11356.p1
11.5
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
79704170
80130825
426656
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11450.p1
5.8
M
ASD
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
79159849
79163048
3200
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11542.p1
12.5
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121
78397746
78400008
2263
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11566.p1
7.6
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 92; verbal IQ, 100
78940521
78965624
25104
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11627.p1
5.7
M
ASD
NA
Full-scale IQ, 92; non-verbal IQ, 100; verbal IQ, 83
79739827
79739840
14
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11685.p1
5.3
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 96; verbal IQ, 104
79643088
79750030
106943
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11810.p1
7.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 104
79931171
80134090
202920
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
79739827
79739840
14
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11824.p1
8.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
79739827
79739840
14
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11909.p1
5.7
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
79739827
79739840
14
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11938.p1
4.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
76697012
76759872
62861
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11941.p1
10.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
79739827
79739840
14
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
79739827
79739840
14
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12066.p1
7.5
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
79237034
79237146
113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12071.p1
11.7
F
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
78513113
78520463
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12139.p1
4.3
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 106; verbal IQ, 86
79739827
79739840
14
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12225.p1
15.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77
78397746
78400008
2263
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12279.p1
4.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
76729379
76759872
30494
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12296.p1
15.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 88; verbal IQ, 52
78397746
78400008
2263
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12417.p1
4.4
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
79739827
79739840
14
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12444.p1
9.5
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
78902714
78922035
19322
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12539.p1
7.9
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
78902714
78905175
2462
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12618.p1
5.5
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 102
77242359
77294929
52571
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12869.p1
5.2
F
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 40; verbal IQ, 22
77364097
77388326
24230
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12948.p1
17.9
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
79739827
79739840
14
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13082.p1
6
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 67; verbal IQ, 61
79739827
79739840
14
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13095.p1
9.8
M
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
79739827
79739840
14
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13169.p1
13.4
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
79739827
79739840
14
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case83
2 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
79169981
80254946
1084966
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case539
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
79186129
79303910
117782
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036015360_
N/A
N/A
Control
No previous psychiatric history
79337360
79378172
40813
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036023810_
N/A
N/A
Control
No previous psychiatric history
76724746
76759872
35127
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB579510_1007848497
N/A
N/A
Control
No previous psychiatric history
80081190
80257297
176108
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB601362_1007852912
N/A
N/A
Control
No previous psychiatric history
75477109
76209370
732262
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB822131_1007874605
N/A
N/A
Control
No previous psychiatric history
75905714
76286200
380487
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB910399_1007854748
N/A
N/A
Control
No previous psychiatric history
77423215
78991058
1567844
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB921922_1007844480
N/A
N/A
Control
No previous psychiatric history
76697012
76759872
62861
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900975_900975
N/A
N/A
Control
No previous psychiatric history
78126922
78170831
43910
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901095_901095
N/A
N/A
Control
No previous psychiatric history
76697012
76759872
62861
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
N/A
N/A
Control
No previous psychiatric history
77383418
77644984
261567
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902512_902512
N/A
N/A
Control
No previous psychiatric history
76697012
76759872
62861
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902825_902825
N/A
N/A
Control
No previous psychiatric history
76721019
76759872
38854
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_110
NA
NA
Control
NA
NA
78045293
79627839
1582547
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control11810.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11810. SRS score of 86.
79933968
80247348
313381
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13508.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13508. SRS score of 41.
77256157
77268902
12746
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11810.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
79903975
80133192
229218
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_controls-AU1374301
N/A
M
Control
Unaffected sibling
78084000
78911000
827001
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
78397746
78400008
2263
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11106.s1
7.2
M
Control (matched sibling)
NA
NA
77435612
77439340
3729
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11194.s1
10.7
M
Control (matched sibling)
NA
NA
78397746
78400008
2263
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11219.s1
7
F
Control (matched sibling)
NA
NA
78397746
78400008
2263
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11270.s1
4.2
M
Control (matched sibling)
NA
NA
77045104
77046818
1715
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
78397746
78400008
2263
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11450.s1
12.5
F
Control (matched sibling)
NA
NA
79159849
79163048
3200
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11488.s1
7.7
M
Control (matched sibling)
NA
NA
78397746
78400008
2263
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11542.s1
14.6
F
Control (matched sibling)
NA
NA
78397746
78400008
2263
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11721.s1
6.9
M
Control (matched sibling)
NA
NA
79237034
79237146
113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11810.s1
4.4
F
Control (matched sibling)
NA
NA
79931171
80134090
202920
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11855.s1
15.9
F
Control (matched sibling)
NA
NA
79739827
79739840
14
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11959.s1
9.7
F
Control (matched sibling)
NA
NA
79739827
79739840
14
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12071.s1
19.6
M
Control (matched sibling)
NA
NA
78513113
78520463
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12568.s1
15.7
F
Control (matched sibling)
NA
NA
79739827
79739840
14
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
79739827
79739840
14
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12956.s1
7.4
F
Control (matched sibling)
NA
NA
78421489
78535987
114499
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bartnik_12_EP_discovery_cases-case17
Maternal
SALL3,ATP9B,NFATC1
bena_13_ASD/DD/ID_discovery_cases-case14
MLPA
Unknown
Multiplex
Possibly segregated
BDP1P,GALR1,MBP
bena_13_ASD/DD/ID_discovery_cases-case15
MLPA
Unknown
Multiplex
Possibly segregated
BDP1P,GALR1,MBP
bitar_19_ASD_discovery_cases-case91
qPCR
De novo
CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,GALR1,SALL3,KCNG2,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,CTDP1
brandler_18_ASD_discovery_cases-caseREACH000586
SNP VCF
Unknown (possible de novo)
KCNG2
egger_14_ASD_discovery_cases-caseA144
qPCR
Maternal
Not segregated (duplication found in unaffected brother)
SLC25A6P4,RBFA,RBFADN
egger_14_ASD_discovery_cases-caseA153
qPCR
De novo
Possibly segregated
SLC25A6P4,RBFA,RBFADN
engchuan_15_ASD_discovery_cases-case14064_1110
Unknown
engchuan_15_ASD_discovery_cases-case14235_2490
Unknown
ATP9B
engchuan_15_ASD_discovery_cases-case14331_4450
De novo
LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,C18orf65,LINC01927,LINC01879,GALR1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC00908
engchuan_15_ASD_discovery_cases-case8411_201
Unknown
GALR1
gai_11_ASD_discovery_cases-AU1374302
Inherited
SALL3
gai_11_ASD_replication_cases-AU075308
Inherited
ATP9B
gai_11_ASD_replication_cases-AU081904
Inherited
CTDP1, KCNG2
girirajan_11_ASD_discovery_cases-Si194
Unknown
Simplex
SLC25A6P4,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,RBFADN,PARD6G
girirajan_13a_ASD_discovery_cases-13508.p1
Unknown
Simplex
Unknown
BDP1P,RNA5SP461,GALR1,MBP
girirajan_13a_ASD_discovery_cases-13518.p1
Unknown
Simplex
Unknown
GALR1,MBP
guo_18_ASD/DD/ID_discovery_cases-caseBK-381-03
aCGH, Sanger sequencing
De novo
Simplex
Segregated
SLC25A6P4,TXNL4A,RBFA,ADNP2,PARD6G-AS1,RBFADN,PARD6G
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001232
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01896,SLC25A6P4,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,ATP9B,NFATC1,RBFADN,PARD6G,CTDP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002037
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NFATC1,CTDP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004154
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,LINC00908,CTDP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004260
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01896,SLC25A6P4,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,ATP9B,NFATC1,RBFADN,PARD6G,CTDP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004303
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
BDP1P,GALR1,MBP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005395
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BDP1P,GALR1,MBP
krumm_13_ASD_discovery_cases-case11356.p1
Paternal
Simplex
Segregated
SLC25A6P4,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,RBFADN,CTDP1
krumm_13_ASD_discovery_cases-case11810.p1
Paternal
Simplex
Not segregated
SLC25A6P4,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,RBFADN,PARD6G
krumm_13_ASD_discovery_cases-case13508.p1
Maternal
Simplex
Not segregated
GALR1,MBP
krumm_15_ASD_discovery_cases-case11356.p1
Illumina 1M
Paternal
Simplex
Segregated
SLC25A6P4,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,RBFADN,CTDP1
krumm_15_ASD_discovery_cases-case11685.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CTDP1
krumm_15_ASD_discovery_cases-case11810.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
SLC25A6P4,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,RBFADN
krumm_15_ASD_discovery_cases-case12618.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
GALR1
krumm_15_ASD_discovery_cases-case13494.p1
1M-Duov3
Paternal
Simplex
Segregated
ATP9B
krumm_15_ASD_discovery_cases-case13508.p1
1M-Duov3
Maternal
Simplex
Segregated
GALR1,MBP
krumm_15_ASD_discovery_cases-case13518.p1
1M-Duov3
Maternal
Simplex
Segregated
GALR1,MBP
levy_11_ASD_discovery_cases-11356.p1
Paternal
Simplex
Segregated
SLC25A6P4,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,RBFADN,CTDP1
maini_18_ASD/DD/ID_discovery_cases-case53
De novo
Simplex
Possibly segregated
LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,C18orf65,LINC01927,LINC01879,GALR1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,LINC00908
mazzone_12_MR/ASD_discovery_cases-patient1
Unknown
Unknown
Unknown
RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,CTDP1
nord_11_ASD_discovery_cases-225-1
Paternal
LOC100130522,ADNP2,PARD6G
o'roak_12_ASD_discovery_cases-case13494.p1
aCGH, Sanger sequencing
Paternal
Simplex (trio)
Segregated
ATP9B
pinto_14_ASD_discovery_cases2-case14331_4450
qPCR
De novo
Simplex
(2 healthy brothers, not tested)
LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,C18orf65,LINC01927,LINC01879,GALR1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC00908
prasad_12_ASD_discovery_cases-case84319
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11115.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11144.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11347.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11356.p1
Paternal
Simplex (quad-proband matched)
Segregated
SLC25A6P4,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,RBFADN,CTDP1
sanders_11_ASD_discovery_cases-11450.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP9B
sanders_11_ASD_discovery_cases-11542.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11566.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11627.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTDP1
sanders_11_ASD_discovery_cases-11685.p1
Maternal
Simplex (quad-proband matched)
Segregated
CTDP1
sanders_11_ASD_discovery_cases-11810.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SLC25A6P4,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,RBFADN
sanders_11_ASD_discovery_cases-11818.p1
Both parents
Simplex (quad-proband matched)
Segregated
CTDP1
sanders_11_ASD_discovery_cases-11824.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
CTDP1
sanders_11_ASD_discovery_cases-11909.p1
Both parents
Simplex (quad-proband matched)
Not segregated
CTDP1
sanders_11_ASD_discovery_cases-11938.p1
Paternal
Simplex (trio)
NA
ARL2BPP1,CCND3P2
sanders_11_ASD_discovery_cases-11941.p1
Both parents
Simplex (quad-proband matched)
Not segregated
CTDP1
sanders_11_ASD_discovery_cases-11989.p1
Both parents
Simplex (quad-proband matched)
Not segregated
CTDP1
sanders_11_ASD_discovery_cases-12066.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
ATP9B
sanders_11_ASD_discovery_cases-12071.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12139.p1
Paternal
Simplex (trio)
NA
CTDP1
sanders_11_ASD_discovery_cases-12225.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12279.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
CCND3P2
sanders_11_ASD_discovery_cases-12296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12417.p1
Both parents
Simplex (trio)
NA
CTDP1
sanders_11_ASD_discovery_cases-12444.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12539.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12618.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GALR1
sanders_11_ASD_discovery_cases-12869.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12948.p1
Both parents
Simplex (trio)
NA
CTDP1
sanders_11_ASD_discovery_cases-13082.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTDP1
sanders_11_ASD_discovery_cases-13095.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
CTDP1
sanders_11_ASD_discovery_cases-13169.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTDP1
sansovic_17_DD/ID/ASD_discovery_cases-case83
Maternal
SLC25A6P4,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,ATP9B,NFATC1,RBFADN,PARD6G,CTDP1
yin_16_ASD_discovery_cases-case539
Unknown
Unknown
Unknown
ATP9B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036015360_
Unknown
ATP9B
engchuan_15_ASD_discovery_controls-control110036023810_
Unknown
CCND3P2
engchuan_15_ASD_discovery_controls-controlB579510_1007848497
Unknown
ADNP2,PARD6G-AS1,RBFADN,PARD6G
engchuan_15_ASD_discovery_controls-controlB601362_1007852912
Unknown
LINC01898
engchuan_15_ASD_discovery_controls-controlB822131_1007874605
Unknown
LINC01893
engchuan_15_ASD_discovery_controls-controlB910399_1007854748
Unknown
BDP1P,RNA5SP461,RNU6-655P,LINC01896,SALL3,LINC01029
engchuan_15_ASD_discovery_controls-controlB921922_1007844480
Unknown
ARL2BPP1,CCND3P2
engchuan_15_ASD_discovery_controls-controlHABC_900975_900975
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901095_901095
Unknown
ARL2BPP1,CCND3P2
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
Unknown
BDP1P
engchuan_15_ASD_discovery_controls-controlHABC_902512_902512
Unknown
ARL2BPP1,CCND3P2
engchuan_15_ASD_discovery_controls-controlHABC_902825_902825
Unknown
CCND3P2
girirajan_11_ASD_discovery_controls-NIMH_110
Unknown
LINC01896,SALL3,ATP9B,NFATC1
krumm_13_ASD_discovery_controls-control11810.s1
Paternal
Simplex
SLC25A6P4,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,RBFADN,PARD6G
krumm_13_ASD_discovery_controls-control13508.s1
Maternal
Simplex
GALR1
krumm_15_ASD_discovery_controls-control11810.s1
Illumina 1MDuo
Paternal
SLC25A6P4,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,RBFADN
leppa_16_ASD_discovery_controls-AU1374301
Inherited
Multiplex
sanders_11_ASD_discovery_controls-11029.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11106.s1
Maternal
Simplex (quad)
NA
BDP1P
sanders_11_ASD_discovery_controls-11194.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11219.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11270.s1
Unknown
Simplex (quad)
NA
MBP
sanders_11_ASD_discovery_controls-11436.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11450.s1
Paternal
Simplex (quad)
NA
ATP9B
sanders_11_ASD_discovery_controls-11488.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11542.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11721.s1
Paternal
Simplex (quad)
NA
ATP9B
sanders_11_ASD_discovery_controls-11810.s1
Paternal
Simplex (quad)
NA
SLC25A6P4,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,RBFADN
sanders_11_ASD_discovery_controls-11855.s1
Both parents
Simplex (quad)
NA
CTDP1
sanders_11_ASD_discovery_controls-11959.s1
Unknown
Simplex (quad)
NA
CTDP1
sanders_11_ASD_discovery_controls-12071.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12568.s1
Paternal
Simplex (quad)
NA
CTDP1
sanders_11_ASD_discovery_controls-12674.s1
Paternal
Simplex (quad)
NA
CTDP1
sanders_11_ASD_discovery_controls-12956.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available