6q22.31CNV Type: Deletion-Duplication
Largest CNV size: 537769 bp
Statistics Box:
Number of Reports: 24
Number of Reports: 24
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
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
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
575000
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
373940
4
3
7
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
210398
2
0
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
516000
1
4
5
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
2173825
0
3
3
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
523553
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
6738267
2
4
6
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
11525
0
1
1
koochek_06_ASD_discovery_cases
Affected females from a three-generation family with a family history positive for autism/ASD recruited through ASD-CARC.
2
1 case diagnosed with autism (ADOS module 3), 1 case diagnosed with ASD (DSM-IV criteria)
Range, 8 yrs. 7 mos.-38 yrs.
100% Female
400000
0
2
2
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
167207
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
167207
2
3
5
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
537769
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
740000
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
318000
0
2
2
mulle_13_SCZ_discovery_cases_1
SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
554
Diagnosis of schizophrenia based on meeting DSM-IV citeria
N/A
N/A
3131180
0
1
1
newbury_12_ASD/CAS_discovery_cases
Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
1
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
14 yrs.
Male
784268
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
53034
0
1
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)
192673
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
296402
5
4
9
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
471280
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
77945
2
0
2
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
532921
9
36
45
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
397000
1
0
1
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases
Three unrelated patients with 2p16.3/NRXN1 deletions seen at the Service for Mental Health and Intellectual Disability at the Parc Hospitalari Marti I Julia (Girona, Catalunya, Spain) and referred to the Clinical Genetics Department at the Corporacio Sanitaria Parc Tauli (Sabasell, Catalunya, Spain).
3
All three cases present with intellectual disability; additional diagnoses of bipolar disorder (case 1), ASD (case 2) and ADHD (case 3). Psychopathological evaluation tests: PASS-ADD, Compulsive behavior checklist, and Y-BOCS (cases 1 and 2). Cognitive evaluation tests: K-BIT, FCRO, Color Trail Test 1 and 2, PIEN-ID, BRIEF, ADOS, and Tower of London (cases 1 and 2); WISC-IV, Bayley II, and Reynell (case 3). Behavioral evaluation tests: ABC scale, ABS-RC:2 (cases 1 and 2).
Range, 11-21 yrs.
66.67% Male
154000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
153861
6
1
7
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
387882
0
7
7
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
429119
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
429119
1
2
3
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
820134
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
mulle_13_SCZ_discovery_controls_1
Control subjects selected from three cohorts: a study of Crohn's disease in the Ashkenazim, a study of neuromuscular disease in the Ashkenazim, and the Ashkenazi Jewish Control Registry hosted at Johns Hopkins University.
1014
Control. Control subjects from Crohn's and neuromuscular cohorts were not screened for psychiatric disease; Ashkenazi Jewish Control Registry subjects administered a questionnaire about psychiatric conditions.
N/A
N/A
N/A
N/A
N/A
N/A
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.
113200
1
0
1
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)
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)
296402
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.
818862
4
24
28
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
aCGH (Agilent hotspot 2x400K)
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
koochek_06_ASD_discovery_cases
Caucasian (1 case born in Germany)
aCGH
Spectral Genomics 1-Mb whole genome array
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
mulle_13_SCZ_discovery_cases_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
Solid phase hybridization
newbury_12_ASD/CAS_discovery_cases
European (Caucasian)
aCGH
Agilent 244K
Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
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
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
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
shin_15_ASD/DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
None
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases
Spain
aCGH
Agilent 400K
Agilent Workbench 5.0, Cytogenetics software, BioDiscovery Nexus 6.1
MLPA
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
mulle_13_SCZ_discovery_controls_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
None
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
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
digregorio_17_DD/ID_discovery_cases-DECIPHER_296462
N/A
F
Cognitive impairment and DD/ID
Facial dysmorphic features, microcephaly, thin hair, hypertelorism, epicanthus, craniosynostosis with proptosis due to orbital hypoplasia, depressed nasal bridge, smooth philtrum, thin lips, micrognathia, hypotonia, ligamentous laxity, severe dyspraxia, moderate developmental delay
Cognitive impairment, moderate intellectual disability
124761900
125336753
574854
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13157_1743
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
123947311
124028239
80929
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13166_1833
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
118412004
118711016
299013
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16039_1571028001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
123945937
124028239
82303
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4241_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
124379574
124443413
63840
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6280_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
121210272
121316656
106385
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8654_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
119008393
119149018
140626
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8659_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
118437071
118811001
373931
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1031301
Autism
122853798
123064195
210398
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1031302
Autism
122853798
123064195
210398
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-11299.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
118282144
118802135
519992
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-12334.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
118372144
118752144
380001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13757.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
118322144
118692144
370001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14176.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
118392144
118712144
320001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14473.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
125117155
125387155
270001
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29806106231
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
120286745
121745709
1458965
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-29806106231
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
120262364
122436190
2173827
GRCh38
Duplication
Yes
girirajan_13b_ASD_discovery_cases-55704100868
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
118366145
118771813
405669
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case19D0589
1 yr. 11 mos.
F
Developmental delay
Developmental delay
118372152
118895704
523553
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002198
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
124116341
124499647
383307
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002367
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
118509086
119604498
1095413
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002378
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
118390687
118736132
345446
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002728
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
118229864
118723034
493171
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004020
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
118975015
125713307
6738293
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004189
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
123206400
123959297
752898
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1999
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
120741459
120752983
11525
Unknown
Duplication
No
koochek_06_ASD_discovery_cases-subjectII:3
38 yrs.
F
ASD
Diagnosed at age 28 years with ASD (according to DSM-IV criteria). Birth/neonatal history: born after normal full-term pregnancy, low muscle tone, noted to be less responsive than other babies. Developmental milestones: gradually apparent developmental delays. Behavioral/psychiatric evaluation: history of psychiatric problems; described as "disturbed and living in a fantasy world" upon starting elementary school; ADHD (started on Ritalin at age 11 with some improvement in attention and hyperactivity); problematic behaviors including swearing, screaming, stealing, lying and outward physical and verbal abuse and aggression towards others developed after age 18 years; finger-flicking, consistent gaze avoidance. Epilepsy/seizures: diagnosed with partial simple seizures following development of balckouts at 25 years (resolved with Tegretol therapy); progressed to generalized seizure disorder at 38 years. EEG: diffuse increase in baseline activity but no fical disturbance at 8 months; no significant abnormality at 11 years. Language and communication evaluation: slurred speech and inability or read or write at 10 years; staccato-like, hoarse voice with articulation problems and frequent vocal tics. Musculoskeletal evaluation (38 yrs): normal. Two eye operations for strabismus at 11 yrs. Dysmorphic features: posterior occipital flattening, coarsened facial features, down-slanting palpebral fissures, broad and high nasal root, widened nasal bridge, prominent nasal tip, maxillary hypoplasia, retrognathia, pointed chin, crowded and protuberant teeth, D2/D3 syndactyly. Growth parameters: height, 5th %ile; weight, 50th-75th %ile; head circumference, 25th-50th %ile. Family history: niece (subject III:1) diagnosed with autism with comorbid intellectual disability; sister (subject II:2) reported to have learning problems as a child but no symptoms of autism; maternal aunt (subject I:3) who died in her 40s with learning disabilities, psychiatric illness, and symptoms of autism. Other genetic characteristics: cryptic maternally-transmitted translocation t(14:15)(q11.2:q13.3).
Intellectual disability, clinically diagnosed at 5 years of age.
123778065 (approx.)
124335284 (approx.)
400000
NCBI35
Duplication
No
koochek_06_ASD_discovery_cases-subjectIII:1
8 yrs. 7 mos.
F
Autism
Diagnosis of autism (ADOS module 3, administered at 8 yrs. 7 mos.). Birth/neonatal history: born at 42 weeks following uncomplicated pregnancy, required resuscitation, Apgar scores ranged from 4-6 (1st few minutes) and were 8 at 10 minutes. Developmental milestones: mild motor delays noted in infancy (cruising at 13-14 months, walking at 16 months with clumsiness and uneven arm swing); problematic fine motor development; mildly delayed expressive language development (single words at 2 years, 2-3 word combinations by 3 yrs.). Language and communication evaluation: combined receptive/expressive language disorder; speech abnormalities (whisperings, mumbling, stereotyped phrasing) and alterations in speech fluency. Motor skills and musculoskeletal evaluation: low average muscle tone with increased joint mobility confirmed at 4 yrs.; generalized ligamentous laxity noted at 8 yrs. 7 mos. Behavioral/psychiatric evaluation: poor social reciprocity, lack of interest in elicting information, poor eye contact, difficulties with empathy, lack of insight, social awkardness, limited social overtures; anxiety symptoms. EEG: normal. Brian MRI: normal. Dysmorphic features: high forehead with deep-set eyes, down-slanting palpebral fissures, right esotropia, flat occiput, facial asymmetry, broad nasal root, high nasal bridge, high-arched palate, maxillary hypoplasia, retrognathia. Growth parameters: height, 75th %ile; weight, 75th %ile; head circumference, 75th %ile. Family history: mother (subject II:2) reported to have mild learning problems as a child but no symptoms of autism; maternal aunt (subject II:3) with ASD with comorbid intellectual disability (ID), ADHD, oppositional disorder, conduct disorder, and epilepsy: maternal grand-aunt (subject I:3) who died in her 40s with learning disabilities, psychiatric illness, and symptoms of autism. Other genetic characteristics: cryptic maternally-transmitted translocation t(14:15)(q11.2:q13.3).
Formal cognitive testing performed at 5 yrs. 1 mo). Wechsler Preschool and Primary Scales of Intelligence-Revised (WWPSI-R) overall score in mild intellectual disability (ID) range: verbal score, 73 (borderline); performance score, 65 (mild ID). Vineland Adaptive Behaviour Scale: overall functioning in mild ID range in terms of communication, daily living skills and motor skills; low-average performance in socialization.
123778065 (approx.)
124335284 (approx.)
400000
NCBI35
Duplication
No
krumm_13_ASD_discovery_cases-case12334.p1
N/A
M
ASD
ASD proband from SSC quad family 12334. SRS score of 61.
Full-scale IQ (FSIQ) score of 84.
118465404
118632611
167208
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13487.p1
N/A
M
ASD
ASD proband from SSC quad family 13487. SRS score of 56.
Full-scale IQ (FSIQ) score of 96.
123252411
123265338
12928
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case12334.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
118465404
118632611
167208
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12787.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
121317494
121321796
4303
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13642.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
119301987
119349065
47079
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13654.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
118558921
118632611
73691
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13757.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
118465404
118632611
167208
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11299.p1
NA
M
ASD
NA
NA
118273225
118810983
537759
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown183
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
123218480
123959297
740818
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-MM0220-003
NA
M
ASD
Moderate dysmorphism, high myopia, fine motor difficulties
IQ/LOF 82
118371144
118689144
318001
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-NA0025-000
NA
M
ASD
Mild language delay and regression, moderate repetitive behavior
IQ/LOF Unknown
118395155
118689144
293990
GRCh38
Duplication
Yes
mulle_13_SCZ_discovery_cases_1-caseAJ_8924_2
N/A
N/A
Schizophrenia
N/A
N/A
121966203
125097383
3131181
GRCh38
Duplication
Yes
newbury_12_ASD/CAS_discovery_cases-case1
14 yrs.
M
PDD-NOS and CAS
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
123206400
123990668
784269
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-242-1
ASD
125575203
125628236
53034
Unknown
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0256A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU037803; NDAR ID NDAR_INVNW883DB3)
121255326
121447998
192673
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case115738L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
118844131
118969393
125263
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case144127
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
119007112
119168491
161380
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case56040
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
122003124
122012109
8986
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59171L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
122003124
122012109
8986
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60490L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
118817292
119113693
296402
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case61180-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
118817292
119113693
296402
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case63167L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
122003124
122012109
8986
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case71920
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
122003124
122012109
8986
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case95237
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
122003124
122012109
8986
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_217
14 yrs.
F
Intellectual disability, epilepsy, and ADHD
Epilepsy, ADHD, short stature
Intellectual disability
119434458
119905756
471299
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1533-0
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
123950295
124028239
77945
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-263
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
119445248
119497878
52631
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11009.p1
9
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 93; verbal IQ, 96
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11087.p1
6.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 86; verbal IQ 99
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11096.p1
13.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 95
124116361
124147747
31387
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11152.p1
6.7
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 61; verbal IQ, 57
124114796
124150192
35397
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11164.p1
7.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 107; verbal IQ, 89
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11200.p1
6.8
M
Autism
NA
Full-scale IQ, 135; non-verbal IQ, 128; verbal IQ, 134
124114796
124156450
41655
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11229.p1
9.4
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
124117477
124147747
30271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11246.p1
8.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11299.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 104; verbal IQ, 87
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11299.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 104; verbal IQ, 87
118278090
118811001
532912
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11374.p1
8.8
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11379.p1
5.8
F
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 65; verbal IQ, 78
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11410.p1
6.6
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 74; verbal IQ, 40
124119598
124147747
28150
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11485.p1
5.6
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11768.p1
8.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
124596438
124598551
2114
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11782.p1
5.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
124117477
124147747
30271
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
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11881.p1
9.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 90; verbal IQ, 89
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11883.p1
10.3
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 92; verbal IQ, 70
120420313
120431837
11525
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11933.p1
8.7
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
119787016
119791574
4559
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
124596438
124598551
2114
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12038.p1
4.7
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 83; verbal IQ, 60
124114796
124150192
35397
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12041.p1
6.7
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
124853895
124889772
35878
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12144.p1
4.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12299.p1
6.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 125
125060977
125064324
3348
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
118369659
118780872
411214
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12390.p1
6.5
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 97; verbal IQ, 75
124116361
124147747
31387
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12457.p1
9.6
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 103
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12478.p1
4.8
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12532.p1
11.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 135
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12539.p1
7.9
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
124853895
124889772
35878
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12610.p1
5.4
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 71
124853895
124889772
35878
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12657.p1
9.3
F
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 77; verbal IQ, 89
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12703.p1
12.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 58; verbal IQ, 61
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
123682338
123702530
20193
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12821.p1
4.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 86
124114796
124150192
35397
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
124963311
125057966
94656
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12930.p1
12.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57
124114796
124150192
35397
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12961.p1
4.4
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13128.p1
11
F
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 88
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13146.p1
10.4
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13382.p1
4.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ, 83
124114796
124150192
35397
GRCh38
Duplication
No
shin_15_ASD/DD/ID_discovery_cases-case19
5 yrs.
M
ASD, DD and ID
ASD, developmental delay, and intellectual disability
Intellectual disability
120899610
121296649
397040
GRCh38
Deletion
No
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case3
11 yrs.
M
ADHD and intellectual disability
Diagnosis of attention deficit hyperactivity disorder (ADHD) at age of 9 years. Birth/neonatal history: during pregnancy, mother suffered hyperemesis gravidarum and had surgical intervention for sacral cyst and retroplacental hematoma; born full-term with birth weight of 2800 g and length of 50 cm; no congenital abnormalities observed at birth; had breastfeeding and artificial feeding difficulties and frequent vomiting. Developmental milestones: unable to chew, had not acquired any language, and presented severe sleep disturbances at age of 3 years. Language and communication evaluation: language impairment (both expression and comprehension). Behavioral/psychiatric evaluation: autistic traits with hyperactivity and challenging behavior; presented many fears, sleep disturbances, and looked very anxious. Dysmorphic features: mildly long face, deep set eyes, prominent premaxilla, long philtrum. Growth parameters: height 3rd %ile, weight 3rd %ile, OFC 3rd %ile. Family history: only child of non-consanguineous parents; family history of borderline IQ (dysexecutive pattern) and psychiatric disorder (anxiety) in mother and two maternal aunts; father required treatment for OCD and showed reduced verbal memory.
Mild intellectual disability (IQ of 53); neuropsychological profile characterized by language impairment (both expression and comprehension), poor working memory, and attention.
120962392
121116288
153897
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB616228_1007853931
N/A
N/A
Control
No previous psychiatric history
123856318
123889467
33150
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB731063_1007872315
N/A
N/A
Control
No previous psychiatric history
124700546
124732131
31586
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB737833_1007875235
N/A
N/A
Control
No previous psychiatric history
122025521
122167165
141645
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB761923_1007874868
N/A
N/A
Control
No previous psychiatric history
119963843
120117704
153862
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB784823_1007875340
N/A
N/A
Control
No previous psychiatric history
123820452
123921986
101535
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB854837_1007844841
N/A
N/A
Control
No previous psychiatric history
123927496
123997377
69882
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901033_901033
N/A
N/A
Control
No previous psychiatric history
119439834
119513651
73818
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1287
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
120741459
120752983
11525
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1709
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
118673075
119005785
332711
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1973
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
124442286
124468892
26607
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split241
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
118692498
119080379
387882
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split511
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
120741459
120752983
11525
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split799
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
124442286
124468892
26607
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split855
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
120741459
120746439
4981
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control12334.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12334. SRS score of 48.
118465404
118894522
429119
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control12334.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
118465404
118632611
167208
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13642.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
119290682
119349065
58384
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13849.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
118465404
118894522
429119
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-12346.s1
NA
M
Control
NA
NA
123189014
124009147
820134
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C26443
Control
119099075
119212274
113200
Unknown
Deletion
sanders_11_ASD_discovery_controls-11009.s1
7.6
M
Control (matched sibling)
NA
NA
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
120766343
120796998
30656
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11246.s1
6.7
F
Control (matched sibling)
NA
NA
124116361
124147747
31387
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11353.s1
6.8
M
Control (matched sibling)
NA
NA
124116361
124147747
31387
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11364.s1
8.8
F
Control (matched sibling)
NA
NA
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11395.s1
3.5
M
Control (matched sibling)
NA
NA
124114796
124163843
49048
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11410.s1
11.3
F
Control (matched sibling)
NA
NA
124116361
124147747
31387
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11537.s1
10.3
F
Control (matched sibling)
NA
NA
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11766.s1
4.3
F
Control (matched sibling)
NA
NA
124117477
124147747
30271
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11768.s1
7
F
Control (matched sibling)
NA
NA
124596438
124598551
2114
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11773.s1
14.3
M
Control (matched sibling)
NA
NA
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11883.s1
6.1
F
Control (matched sibling)
NA
NA
120420313
120431837
11525
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11919.s1
6.7
M
Control (matched sibling)
NA
NA
124114796
124150192
35397
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12006.s1
16.9
F
Control (matched sibling)
NA
NA
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
124114796
124150192
35397
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12303.s1
5.8
F
Control (matched sibling)
NA
NA
124116361
124147747
31387
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12334.s1
4.2
M
Control (matched sibling)
NA
NA
118371141
118771090
399950
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12346.s1
15
M
Control (matched sibling)
NA
NA
123189871
124008733
818863
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12444.s1
7
M
Control (matched sibling)
NA
NA
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12457.s1
5.6
M
Control (matched sibling)
NA
NA
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12478.s1
14.5
M
Control (matched sibling)
NA
NA
124114796
124150192
35397
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12494.s1
11
F
Control (matched sibling)
NA
NA
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12532.s1
9
F
Control (matched sibling)
NA
NA
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12657.s1
10.8
F
Control (matched sibling)
NA
NA
124114796
124147747
32952
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12937.s1
18.9
M
Control (matched sibling)
NA
NA
124851342
124882292
30951
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12955.s1
9.5
M
Control (matched sibling)
NA
NA
124114796
124150192
35397
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12989.s1
11.4
F
Control (matched sibling)
NA
NA
124119598
124150192
30595
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13327.s1
10.3
F
Control (matched sibling)
NA
NA
121882458
121919030
36573
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
digregorio_17_DD/ID_discovery_cases-DECIPHER_296462
Paternal
HDDC2,RNF217-AS1,RNF217,TPD52L1,NKAIN2
engchuan_15_ASD_discovery_cases-case13157_1743
Unknown
NKAIN2
engchuan_15_ASD_discovery_cases-case13166_1833
Unknown
SSXP10,PLN,CEP85L
engchuan_15_ASD_discovery_cases-case16039_1571028001
Unknown
NKAIN2
engchuan_15_ASD_discovery_cases-case4241_1
Unknown
NKAIN2
engchuan_15_ASD_discovery_cases-case6280_3
Unknown
TBC1D32
engchuan_15_ASD_discovery_cases-case8654_201
Unknown
MIR548B,FAM184A
engchuan_15_ASD_discovery_cases-case8659_201
Unknown
SSXP10,PLN,SELENOKP3,CEP85L
gai_11_ASD_discovery_cases-AU1031301
Inherited
PKIB
gai_11_ASD_discovery_cases-AU1031302
Inherited
PKIB
girirajan_13a_ASD_discovery_cases-11299.p1
Unknown
Simplex
Unknown
SSXP10,PLN,SELENOKP3,SLC35F1,CEP85L
girirajan_13a_ASD_discovery_cases-12334.p1
Unknown
Simplex
Unknown
SSXP10,PLN,CEP85L
girirajan_13a_ASD_discovery_cases-13757.p1
Unknown
Simplex
Unknown
SSXP10,PLN,CEP85L
girirajan_13a_ASD_discovery_cases-14176.p1
Unknown
Simplex
Unknown
SSXP10,PLN,CEP85L
girirajan_13a_ASD_discovery_cases-14473.p1
Unknown
Simplex
Unknown
HDDC2,TPD52L1
girirajan_13b_ASD_discovery_cases-29806106231
Unknown
Unknown
Unknown
RNU6-214P,RNA5SP215,COX6A1P3,RNU6-1286P,RNU4-35P,RNU4-76P,RNU2-8P,SLC25A5P7,RPL23AP48,GJA1,TBC1D32
girirajan_13b_ASD_discovery_cases-29806106231
aCGH (Agilent hotspot 2x400K)
Maternal
Unknown
Unknown
RNU6-214P,RNA5SP215,COX6A1P3,RNU6-1286P,RNU4-35P,RNU4-76P,RNU2-8P,SLC25A5P7,RPL23AP48,HMGB3P18,RNU1-18P,GJA1,TBC1D32,HSF2
girirajan_13b_ASD_discovery_cases-55704100868
Unknown
Unknown
Unknown
SSXP10,PLN,SELENOKP3,CEP85L
han_22_ASD/DD/ID_discovery_cases-case19D0589
Unknown
MCM9,CEP85L,SSXP10,SELENOKP3,PLN,BRD7P3,ASF1A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002198
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NKAIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002367
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SSXP10,MIR548B,RNU6-194P,PLN,SELENOKP3,ASF1A,MCM9,FAM184A,MAN1A1,CEP85L
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002378
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SSXP10,PLN,CEP85L
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002728
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
SSXP10,PLN,SLC35F1,CEP85L
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004020
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR548B,RNU6-194P,MIR3144,RNU6-214P,RNA5SP215,COX6A1P3,RNU6-1286P,RNU4-35P,RNU4-76P,RNU2-8P,SLC25A5P7,RPL23AP48,HMGB3P18,RNU1-18P,RN7SL564P,ATP5MGP2,GJA1,SERINC1,FABP7,SMPDL3A,CLVS2,HDDC2,FAM184A,MAN1A1,TBC1D32,HSF2,TRDN,TRDN-AS1,RNF217-AS1,RNF217,TPD52L1,LINC02523,PKIB,NKAIN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004189
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TRDN,TRDN-AS1,NKAIN2
kanduri_15_ASD_discovery_cases-case1999
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, LOC285762(dist=928992),TBC1D32(dist=647657)
koochek_06_ASD_discovery_cases-subjectII:3
Inherited
Simplex
Not segregated
Approx. gene content: TRDN,NKAIN2
koochek_06_ASD_discovery_cases-subjectIII:1
Maternal
Simplex
Unknown
Approx. gene content: TRDN,NKAIN2
krumm_13_ASD_discovery_cases-case12334.p1
Maternal
Simplex
Not segregated
SSXP10,PLN,CEP85L
krumm_13_ASD_discovery_cases-case13487.p1
Maternal
Simplex
Not segregated
TRDN
krumm_15_ASD_discovery_cases-case12334.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
SSXP10,PLN,CEP85L
krumm_15_ASD_discovery_cases-case12787.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
TBC1D32
krumm_15_ASD_discovery_cases-case13642.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RNU6-194P,MAN1A1
krumm_15_ASD_discovery_cases-case13654.p1
1M-Duov3
Paternal
Simplex
Segregated
SSXP10,PLN,CEP85L
krumm_15_ASD_discovery_cases-case13757.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
SSXP10,PLN,CEP85L
levy_11_ASD_discovery_cases-11299.p1
Maternal
Simplex
Segregated
SSXP10,PLN,SELENOKP3,SLC35F1,CEP85L
maini_18_ASD/DD/ID_discovery_cases-case_unknown183
Paternal
Unknown
Unknown
TRDN,TRDN-AS1,NKAIN2
marshall_08_ASD_discovery_cases-MM0220-003
qPCR, qmPCR
Paternal
Multiplex
NA
SSXP10,PLN,CEP85L
marshall_08_ASD_discovery_cases-NA0025-000
qPCR, qmPCR
Paternal
Simplex
NA
SSXP10,PLN,CEP85L
mulle_13_SCZ_discovery_cases_1-caseAJ_8924_2
Solid phase hybridization
Unknown
Unknown
Unknown
RNU1-18P,RN7SL564P,ATP5MGP2,SERINC1,FABP7,SMPDL3A,CLVS2,HSF2,TRDN,TRDN-AS1,RNF217-AS1,RNF217,PKIB,NKAIN2
newbury_12_ASD/CAS_discovery_cases-case1
Maternal
Simplex
Unknown (novel in DGV)
TRDN,TRDN-AS1,NKAIN2
nord_11_ASD_discovery_cases-242-1
Paternal
TPD52L1
poultney_13_ASD_discovery_cases-case98HI0256A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU6-1286P,GJA1,TBC1D32
prasad_12_ASD_discovery_cases-case115738L
Unknown
Unknown
Unknown
C6orf204,BRD7P3
prasad_12_ASD_discovery_cases-case144127
Unknown
Unknown
Unknown
C6orf204
prasad_12_ASD_discovery_cases-case56040
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case59171L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60490L
Unknown
Unknown
Unknown
C6orf204,PLN,BRD7P3
prasad_12_ASD_discovery_cases-case61180-L
Unknown
Multiplex
Unknown
C6orf204,PLN,BRD7P3
prasad_12_ASD_discovery_cases-case63167L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case71920
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case95237
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_217
Unknown
Unknown
sajan_13_ACC/CBLH/PMG_discovery_cases-case1533-0
qPCR
Unknown
Unknown
Unknown
NKAIN2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-263
qPCR
Unknown
Unknown
Unknown
sanders_11_ASD_discovery_cases-11009.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11087.p1
Maternal
Simplex (trio)
NA
NKAIN2
sanders_11_ASD_discovery_cases-11096.p1
Paternal
Simplex (quad-proband matched)
Segregated
NKAIN2
sanders_11_ASD_discovery_cases-11152.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11164.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11200.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11246.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11299.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11299.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SSXP10,PLN,SELENOKP3,SLC35F1,CEP85L
sanders_11_ASD_discovery_cases-11374.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11379.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11410.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11485.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11711.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11768.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11782.p1
Maternal
Simplex (trio)
NA
NKAIN2
sanders_11_ASD_discovery_cases-11824.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
NKAIN2
sanders_11_ASD_discovery_cases-11881.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-11883.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11933.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11996.p1
Unknown
Simplex (trio)
NA
NKAIN2
sanders_11_ASD_discovery_cases-12038.p1
Paternal
Simplex (trio)
NA
NKAIN2
sanders_11_ASD_discovery_cases-12041.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12061.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-12144.p1
Paternal
Simplex (trio)
NA
NKAIN2
sanders_11_ASD_discovery_cases-12261.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-12299.p1
Paternal
Simplex (quad-proband matched)
Segregated
RNF217
sanders_11_ASD_discovery_cases-12334.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SSXP10,PLN,SELENOKP3,CEP85L
sanders_11_ASD_discovery_cases-12390.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-12457.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-12478.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-12532.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-12539.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12610.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12657.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-12703.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-12757.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12821.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-12869.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
RNF217
sanders_11_ASD_discovery_cases-12930.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-12961.p1
Paternal
Simplex (trio)
NA
NKAIN2
sanders_11_ASD_discovery_cases-13128.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NKAIN2
sanders_11_ASD_discovery_cases-13146.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
NKAIN2
sanders_11_ASD_discovery_cases-13382.p1
Maternal
Simplex (trio)
NA
NKAIN2
shin_15_ASD/DD/ID_discovery_cases-case19
Unknown
Unknown
TBC1D32
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case3
MLPA
Maternal
Unknown
Multi-generational
Unknown
TBC1D32
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB616228_1007853931
Unknown
NKAIN2
engchuan_15_ASD_discovery_controls-controlB731063_1007872315
Unknown
NKAIN2
engchuan_15_ASD_discovery_controls-controlB737833_1007875235
Unknown
engchuan_15_ASD_discovery_controls-controlB761923_1007874868
Unknown
MIR3144
engchuan_15_ASD_discovery_controls-controlB784823_1007875340
Unknown
NKAIN2
engchuan_15_ASD_discovery_controls-controlB854837_1007844841
Unknown
NKAIN2
engchuan_15_ASD_discovery_controls-controlHABC_901033_901033
Unknown
kanduri_15_ASD_discovery_controls-control_split1287
Unknown
Intergenic CNV: nearest genes, LOC285762(dist=928992),TBC1D32(dist=647657)
kanduri_15_ASD_discovery_controls-control_split1709
Unknown
CEP85L,PLN
kanduri_15_ASD_discovery_controls-control_split1973
Unknown
NKAIN2 (intronic)
kanduri_15_ASD_discovery_controls-control_split241
Unknown
CEP85L,PLN
kanduri_15_ASD_discovery_controls-control_split511
Unknown
Intergenic CNV: nearest genes, LOC285762(dist=928992),TBC1D32(dist=647657)
kanduri_15_ASD_discovery_controls-control_split799
Unknown
NKAIN2 (intronic)
kanduri_15_ASD_discovery_controls-control_split855
Unknown
Intergenic CNV: nearest genes, LOC285762(dist=928992),TBC1D32(dist=654201)
krumm_13_ASD_discovery_controls-control12334.s1
Maternal
Simplex
SSXP10,PLN,SELENOKP3,ASF1A,MCM9,CEP85L
krumm_15_ASD_discovery_controls-control12334.s1
Illumina 1MDuo
Maternal
SSXP10,PLN,CEP85L
krumm_15_ASD_discovery_controls-control13642.s1
1M-Duov3
Maternal
RNU6-194P,MAN1A1
krumm_15_ASD_discovery_controls-control13849.s1
Omni2.5-4v1
Paternal
SSXP10,PLN,SELENOKP3,ASF1A,MCM9,CEP85L
levy_11_ASD_discovery_controls-12346.s1
Paternal
Simplex
NA
TRDN,TRDN-AS1,NKAIN2
nord_11_ASD_discovery_controls-04C26443
0 genes
sanders_11_ASD_discovery_controls-11009.s1
Maternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-11029.s1
Maternal
Simplex (quad)
NA
COX6A1P3
sanders_11_ASD_discovery_controls-11246.s1
Paternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-11353.s1
Paternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-11364.s1
Maternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-11395.s1
Maternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-11410.s1
Both parents
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-11537.s1
Maternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-11766.s1
Paternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-11768.s1
Unknown
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-11773.s1
Maternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-11883.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11919.s1
Maternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-12006.s1
Maternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-12261.s1
Maternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-12303.s1
Paternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-12334.s1
Maternal
Simplex (quad)
NA
SSXP10,PLN,SELENOKP3,CEP85L
sanders_11_ASD_discovery_controls-12346.s1
Paternal
Simplex (quad)
NA
TRDN,TRDN-AS1,NKAIN2
sanders_11_ASD_discovery_controls-12444.s1
Maternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-12457.s1
Paternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-12478.s1
Paternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-12494.s1
Paternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-12532.s1
Maternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-12657.s1
Paternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-12937.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12955.s1
Paternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-12989.s1
Maternal
Simplex (quad)
NA
NKAIN2
sanders_11_ASD_discovery_controls-13327.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available