19q13.33CNV Type: Deletion-Duplication
Largest CNV size: 334436 bp
Statistics Box:
Number of Reports: 20
Number of Reports: 20
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...
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Duplication
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
890697
0
1
1
akter_24_ASD/ADHD/DD/ID_discovery_cases
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
576
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
98.26% under 18 years of age
67.71% Male
890697
0
1
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
203
1
0
1
brand_15_ASD_discovery_cases
ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
259
Diagnosis of ASD
N/A
N/A
52476
0
2
2
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
13818
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
345878
1
6
7
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
NA
0
1
1
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
289094
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
39108
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
145421
2
4
6
leblond_19_ASD_discovery_cases
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
36
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
N/A
77.78% Male
67600
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
48272
2
0
2
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
260000
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)
34090
1
2
3
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
61936
7
3
10
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
334436
20
7
27
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
14953
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
327948
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
64000
2
0
2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
2645283
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
348397
2
9
11
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.
335709
0
1
1
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
85855
0
2
2
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
16000
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
38814
2
3
5
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
344762
2
1
3
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)
61936
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.
344112
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
327948
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
akter_24_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24+ v3.0
Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
brand_15_ASD_discovery_cases
N/A
Long-insert WGS
Long-insert whole genome sequencing
LUMPY, cn.MOPS, SV classifier
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
aCGH (Agilent 4x180K or 8x60K)
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
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)
leblond_19_ASD_discovery_cases
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
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
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
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
akter_23_ASD/ADHD/DD/ID_discovery_cases-case106
18.92 yrs.
F
Developmental delay and intellectual disability
Global developmental delay, intrauterine growth retardation, severe intellectual disability, long face, long finger, phobia, dyskinesia, prone to anxiety, behavioral abnormalities, self talking, aggressive behavior, self injurious behavior, swallowing problems, inability to walk independently or talk clearly. Growth parameters: height 1.47 m, weight 34 kg, head circumference 54 cm. Family history: no data on familial consanguinity.
Severe intellectual disability
48788938
49679634
890697
GRCh38
Duplication
No
akter_24_ASD/ADHD/DD/ID_discovery_cases-case435
18.92 yrs.
F
Developmental delay and intellectual disability
Developmental milestones: global developmental delay (HP:0001263). Behavioral/psychiatric evaluation: atypical behavior (HP:0000708). Dysmorphic features: abnormal facial shape (HP:0001999). Growth parameters: head circumference 54 cm, height 147 cm, weight 34 kg.
Intellectual disability (HP:0001249)
48788938
49679634
890697
GRCh38
Duplication
No
brandler_18_ASD_discovery_cases-caseMT_184.3
N/A
M
PDD-NOS
Case from REACH cohort
49440043
49440246
204
GRCh38
Deletion
No
brand_15_ASD_discovery_cases-case16
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 19 in this case. Duplication not previously identified by aCGH.
48287594
48307769
20176
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case16
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 19 in this case. Duplication previously identified by aCGH (chr19:49278142-49321976; hg19).
48773436
48825912
52477
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11442
NA
M
ASD
NA
NA
51631518
51645336
13819
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case20098_1429001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49107132
49142749
35618
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21023_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51770004
52114116
344113
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4151_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51768238
52114116
345879
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4224_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51770004
52114116
344113
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5076_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52159397
52200099
40703
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5340_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50678048
50734242
56195
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8631_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51775416
52104512
329097
GRCh38
Duplication
No
gannon_11_ASD/DD_discovery_cases-patientU
ASD and/or DD
Dysmorphic features: unknown
IQ unknown
NA
NA
NA
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002130
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50076580
50354608
278029
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003855
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
51824349
52113443
289095
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12843.p1
N/A
M
ASD
ASD proband from SSC quad family 12843. SRS score of 72.
Full-scale IQ (FSIQ) score of 93.
49133000
49172108
39109
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11494.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
48894997
48922424
27428
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11938.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
48795425
48813730
18306
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12192.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
50031081
50047059
15979
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12539.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
49901638
50047059
145422
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13329.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
48211709
48234543
22835
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13731.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
48441768
48453027
11260
GRCh38
Duplication
Yes
leblond_19_ASD_discovery_cases-casePN400559
N/A
M
ASD
Diagnosis of Asperger syndrome. Behavioral/psychiatric evaluation: sleep disturbance.
Full-scale IQ 92, performance IQ 92, verbal IQ 92
48104515
48172114
67600
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11494.p1
NA
M
ASD
NA
NA
48895061
48929320
34260
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12303.p1
NA
M
ASD
NA
NA
51134936
51183208
48273
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown82
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)
48550244
48809752
259509
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI2811A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0995303; NDAR ID NDAR_INVZH157CYV)
48977922
48999375
21454
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3618A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1392302; NDAR ID NDAR_INVDM419REG)
48575913
48610002
34090
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0976A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU008103; NDAR ID NDAR_INVJX854VU0)
49032094
49036713
4620
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case100677L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
56882402
56889637
7236
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case115751L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
56361499
56405212
43714
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case117371L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
56882402
56889637
7236
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case120919
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
53896477
53903670
7194
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case168753
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
55872843
55934778
61936
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case47005
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
57455454
57463382
7929
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59724-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
56882402
56889637
7236
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60836
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
53896477
53903670
7194
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60916L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
57352021
57395173
43153
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case93914
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
54171283
54191521
20239
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11121.p1
10.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
48680448
48703205
22758
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11176.p1
12.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
48680448
48703160
22713
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11178.p1
9.3
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 119; verbal IQ, 103
49948251
49953470
5220
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11257.p1
5.5
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 118
50757430
50760253
2824
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11387.p1
8.4
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
49539278
49543180
3903
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11494.p1
17.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
48893480
48935106
41627
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11499.p1
7
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
50826752
50829982
3231
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11573.p1
8.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 85; verbal IQ, 51
51775416
52109852
334437
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11598.p1
5.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
51870865
51872973
2109
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11645.p1
8.7
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
48695707
48708712
13006
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11664.p1
7.3
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 44; verbal IQ, 43
48793397
48795582
2186
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11665.p1
9.9
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
48993131
49004321
11191
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11811.p1
16.9
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 80
50827676
50829982
2307
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11916.p1
4.8
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
49948251
49953470
5220
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
49539114
49543180
4067
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11938.p1
4.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
48774885
48818719
43835
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12010.p1
10
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
50757430
50760253
2824
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
51180140
51215581
35442
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12272.p1
5.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 79; verbal IQ, 62
48699602
48707126
7525
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12303.p1
9.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 74; verbal IQ, 96
51136723
51180996
44274
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12441.p1
13.7
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 18
49539114
49543180
4067
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12485.p1
6.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
50757430
50760253
2824
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
49898381
50090736
192356
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12805.p1
8.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
49539114
49543180
4067
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12843.p1
6.2
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
49136691
49167394
30704
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12969.p1
12.2
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 78; verbal IQ, 70
48699602
48707126
7525
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
49165931
49172869
6939
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
51630529
51645481
14953
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case557
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
48561514
48889461
327948
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case2-0160-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: anxiety
50676743
50740743
64001
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-1470-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
50676743
50740743
64001
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14-0139-001
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
47959360
50604642
2645283
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB191910_1007853321
N/A
N/A
Control
No previous psychiatric history
51341724
51430388
88665
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB240249_1007873508
N/A
N/A
Control
No previous psychiatric history
50140004
50227554
87551
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB428062_1007840509
N/A
N/A
Control
No previous psychiatric history
52083666
52114116
30451
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB445877_1007854331
N/A
N/A
Control
No previous psychiatric history
51784199
52114116
329918
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB543816_1007853746
N/A
N/A
Control
No previous psychiatric history
49215291
49271593
56303
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB853244_1007844851
N/A
N/A
Control
No previous psychiatric history
48893480
48928582
35103
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
N/A
N/A
Control
No previous psychiatric history
51765719
52114116
348398
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB994805_1007853994
N/A
N/A
Control
No previous psychiatric history
51784199
52114116
329918
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900097_900097
N/A
N/A
Control
No previous psychiatric history
50140004
50181264
41261
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902536_902536
N/A
N/A
Control
No previous psychiatric history
51770004
52114116
344113
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902538_902538
N/A
N/A
Control
No previous psychiatric history
51770004
52114116
344113
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_182
NA
NA
Control
NA
NA
51783129
52118838
335710
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-28706106413
N/A
N/A
Control
Ethnicity: Caucasian
N/A
48661082
48746937
85856
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-29606106442
N/A
N/A
Control
Ethnicity: Caucasian
N/A
48657918
48730025
72108
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11304.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11304. SRS score of 51.
48977923
48993923
16001
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control13296.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13296. SRS score of 40.
49167916
49172108
4193
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11304.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
48977923
48993923
16001
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11494.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
48894997
48933811
38815
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13015.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
50440879
50452003
11125
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13901.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
49537032
49560691
23660
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14211.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
48977923
48993923
16001
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11494.s1
NA
M
Control
NA
NA
48895061
48929320
34260
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11518.s1
NA
F
Control
NA
NA
51769353
52114114
344762
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12303.s1
NA
F
Control
NA
NA
51134936
51183208
48273
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11121.s1
16.2
F
Control (matched sibling)
NA
NA
48680448
48703205
22758
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11176.s1
8.8
F
Control (matched sibling)
NA
NA
48680448
48703160
22713
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11178.s1
5.1
M
Control (matched sibling)
NA
NA
49948251
49953470
5220
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11257.s1
4.1
M
Control (matched sibling)
NA
NA
50757430
50760253
2824
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11365.s1
13.1
F
Control (matched sibling)
NA
NA
49948251
49953470
5220
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11494.s1
19.3
M
Control (matched sibling)
NA
NA
48893480
48942560
49081
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11518.s1
12.2
F
Control (matched sibling)
NA
NA
51770004
52114116
344113
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11572.s1
14.3
F
Control (matched sibling)
NA
NA
50757430
50760253
2824
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
48687731
48690680
2950
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11818.s1
14.3
F
Control (matched sibling)
NA
NA
49534760
49543180
8421
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11916.s1
6.9
F
Control (matched sibling)
NA
NA
49948251
49953470
5220
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
50911231
50915249
4019
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12303.s1
5.8
F
Control (matched sibling)
NA
NA
51136723
51182507
45785
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12321.s1
9.8
F
Control (matched sibling)
NA
NA
49538115
49543180
5066
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
49539114
49543180
4067
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12969.s1
5.8
M
Control (matched sibling)
NA
NA
48699602
48707126
7525
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13072.s1
8.7
F
Control (matched sibling)
NA
NA
49539114
49543180
4067
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case106
Unknown
CD37,BAX,CGB3,BCAT2,FLT3LG,FCGRT,DHDH,SNORD35A,SNORD32A,SNORD34,DKKL1,SLC6A16,NOSIP,HSD17B14,TRPM4,C19orf73,PIH1D1,SCAF1,PLEKHA4,RCN3,PRR12,SLC17A7,LIN7B,BCL2L12,PTH2,CGB8,SNORD35B,CGB7,CGB5,CGB1,ALDH16A1,CGB2,KASH5,HRC,FTL,PRMT1,IRF3,GYS1,MIR150,SLC6A21P,NTF6A,NTF4,LHB,NTF6B,KCNA7,NUCB1,NTF6G,MIR4324,GFY,NUCB1-AS1,SUMO1P4,PRRG2,RRAS,RPS11,MIR6798,SNRNP70,TULP2,COX6CP7,RNU6-317P,RN7SL708P,PPFIA3,TEAD2,RUVBL2,RPL13A,PPP1R15A
akter_24_ASD/ADHD/DD/ID_discovery_cases-case435
Unknown
CD37,BAX,CGB3,BCAT2,FLT3LG,FCGRT,DHDH,SNORD35A,SNORD32A,SNORD34,DKKL1,SLC6A16,NOSIP,HSD17B14,TRPM4,C19orf73,PIH1D1,SCAF1,PLEKHA4,RCN3,PRR12,SLC17A7,LIN7B,BCL2L12,PTH2,CGB8,SNORD35B,CGB7,CGB5,CGB1,ALDH16A1,CGB2,KASH5,HRC,FTL,PRMT1,IRF3,GYS1,MIR150,SLC6A21P,NTF6A,NTF4,LHB,NTF6B,KCNA7,NUCB1,NTF6G,MIR4324,GFY,NUCB1-AS1,SUMO1P4,PRRG2,RRAS,RPS11,MIR6798,SNRNP70,TULP2,COX6CP7,RNU6-317P,RN7SL708P,PPFIA3,TEAD2,RUVBL2,RPL13A,PPP1R15A
brandler_18_ASD_discovery_cases-caseMT_184.3
Not available
Paternal
SLC17A7
brand_15_ASD_discovery_cases-case16
Maternal
Simplex
Unknown
ZNF114,CCDC114
brand_15_ASD_discovery_cases-case16
Maternal
Simplex
Unknown
RNU6-317P,BCAT2,HSD17B14
celestino-soper_11_ASD_discovery_cases-11442
aCGH (Agilent 4x180K or 8x60K)
Unknown
Simplex
NA
SIGLEC14,SIGLEC5
engchuan_15_ASD_discovery_cases-case20098_1429001
Unknown
LIN7B,C19orf73,SNRNP70,PPFIA3
engchuan_15_ASD_discovery_cases-case21023_1
Unknown
FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
engchuan_15_ASD_discovery_cases-case4151_1
Unknown
FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
engchuan_15_ASD_discovery_cases-case4224_1
Unknown
FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
engchuan_15_ASD_discovery_cases-case5076_3
Unknown
PPP2R1A,ZNF836
engchuan_15_ASD_discovery_cases-case5340_3
Unknown
SHANK1,CLEC11A
engchuan_15_ASD_discovery_cases-case8631_201
Unknown
FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,FPR1,ZNF649,ZNF432
gannon_11_ASD/DD_discovery_cases-patientU
Unknown
Unknown
NA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002130
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
IZUMO2,NAPSB,MYH14,KCNC3,NR1H2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003855
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,ZNF649,ZNF432
krumm_13_ASD_discovery_cases-case12843.p1
Maternal
Simplex
Segregated
PPFIA3,TRPM4,HRC
krumm_15_ASD_discovery_cases-case11494.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
NUCB1-AS1,NUCB1,TULP2
krumm_15_ASD_discovery_cases-case11938.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
BCAT2,HSD17B14
krumm_15_ASD_discovery_cases-case12192.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ZNF473
krumm_15_ASD_discovery_cases-case12539.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ATF5,MIR4751,IL4I1,NUP62,SIGLEC11,SIGLEC16,VRK3,ZNF473
krumm_15_ASD_discovery_cases-case13329.p1
1M-Duov3
Paternal
Simplex
Segregated
CARD8
krumm_15_ASD_discovery_cases-case13731.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
GRIN2D,GRWD1
leblond_19_ASD_discovery_cases-casePN400559
Unknown
Simplex
Unknown
LIG1,ZSWIM9,PLA2G4C
levy_11_ASD_discovery_cases-11494.p1
Paternal
Simplex
Not segregated
NUCB1-AS1,NUCB1,TULP2
levy_11_ASD_discovery_cases-12303.p1
Paternal
Simplex
Not segregated
SIGLEC17P,SIGLEC9,SIGLEC7
maini_18_ASD/DD/ID_discovery_cases-case_unknown82
Maternal
Unknown
Unknown
SPACA4,RPL18,DBP,NTN5,FUT2,MAMSTR,FUT1,FGF21,RNU6-317P,SULT2B1,FAM83E,CA11,SEC1P,RASIP1,IZUMO1,BCAT2,SPHK2
poultney_13_ASD_discovery_cases-case04HI2811A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GYS1,RUVBL2
poultney_13_ASD_discovery_cases-case05HI3618A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SPACA4,SULT2B1,FAM83E
poultney_13_ASD_discovery_cases-case99HI0976A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CGB2,CGB1
prasad_12_ASD_discovery_cases-case100677L
Unknown
Unknown
Unknown
MIR99B,MIRLET7E,MIR125A,NCRNA00085
prasad_12_ASD_discovery_cases-case115751L
Unknown
Unknown
Unknown
SIGLECP3
prasad_12_ASD_discovery_cases-case117371L
Unknown
Unknown
Unknown
MIR99B,MIRLET7E,MIR125A,NCRNA00085
prasad_12_ASD_discovery_cases-case120919
Unknown
Unknown
Unknown
FUT2
prasad_12_ASD_discovery_cases-case168753
qPCR
Maternal
Unknown
Unknown
SHANK1,CLEC11A
prasad_12_ASD_discovery_cases-case47005
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case59724-L
Unknown
Unknown
Unknown
MIR99B,MIRLET7E,MIR125A,NCRNA00085
prasad_12_ASD_discovery_cases-case60836
Unknown
Unknown
Unknown
FUT2
prasad_12_ASD_discovery_cases-case60916L
Unknown
Unknown
Unknown
PPP2R1A,ZNF836
prasad_12_ASD_discovery_cases-case93914
Unknown
Unknown
Unknown
GYS1,RUVBL2
sanders_11_ASD_discovery_cases-11121.p1
Maternal
Simplex (quad-proband matched)
Segregated
FUT2,SEC1P
sanders_11_ASD_discovery_cases-11176.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FUT2,SEC1P
sanders_11_ASD_discovery_cases-11178.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SIGLEC11
sanders_11_ASD_discovery_cases-11257.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GPR32P1
sanders_11_ASD_discovery_cases-11387.p1
Unknown
Simplex (trio)
NA
RCN3
sanders_11_ASD_discovery_cases-11494.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NUCB1-AS1,NUCB1,DHDH,TULP2
sanders_11_ASD_discovery_cases-11499.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KLK15
sanders_11_ASD_discovery_cases-11573.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,FPR1,ZNF649,ZNF432
sanders_11_ASD_discovery_cases-11598.p1
Unknown
Simplex (trio)
NA
ZNF577
sanders_11_ASD_discovery_cases-11645.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FUT2
sanders_11_ASD_discovery_cases-11664.p1
Maternal
Simplex (trio)
NA
BCAT2
sanders_11_ASD_discovery_cases-11665.p1
Unknown
Simplex (quad-proband matched)
Segregated
GYS1,RUVBL2
sanders_11_ASD_discovery_cases-11811.p1
Both parents
Simplex (trio)
NA
KLK15
sanders_11_ASD_discovery_cases-11916.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SIGLEC11
sanders_11_ASD_discovery_cases-11918.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RCN3
sanders_11_ASD_discovery_cases-11938.p1
Maternal
Simplex (trio)
NA
RNU6-317P,BCAT2,HSD17B14
sanders_11_ASD_discovery_cases-12010.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
GPR32P1
sanders_11_ASD_discovery_cases-12221.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
SIGLEC20P,MIR8074,SIGLEC22P,SIGLEC21P
sanders_11_ASD_discovery_cases-12272.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FUT2
sanders_11_ASD_discovery_cases-12303.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SIGLEC17P,SIGLEC7
sanders_11_ASD_discovery_cases-12441.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RCN3
sanders_11_ASD_discovery_cases-12485.p1
Maternal
Simplex (trio)
NA
GPR32P1
sanders_11_ASD_discovery_cases-12539.p1
Maternal
Simplex (trio)
NA
ATF5,MIR4751,IL4I1,NUP62,SIGLEC11,SIGLEC16,VRK3,ZNF473
sanders_11_ASD_discovery_cases-12805.p1
Unknown
Simplex (trio)
NA
RCN3
sanders_11_ASD_discovery_cases-12843.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
PPFIA3,TRPM4,HRC
sanders_11_ASD_discovery_cases-12969.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FUT2
sanders_11_ASD_discovery_cases-13296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TRPM4
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
SIGLEC14,SIGLEC5
yin_16_ASD_discovery_cases-case557
Unknown
Unknown
Unknown
SPACA4,RPL18,DBP,NTN5,FUT2,MAMSTR,FUT1,FGF21,RNU6-317P,SULT2B1,FAM83E,CA11,SEC1P,RASIP1,IZUMO1,BCAT2,HSD17B14,PLEKHA4,PPP1R15A,SPHK2,TULP2
yuen_17_ASD_discovery_cases-case2-0160-003
Illumina OMNI 2.5M
Unknown
Simplex
Unknown
SHANK1,CLEC11A
yuen_17_ASD_discovery_cases-case2-1470-003
Illumina OMNI 2.5M
Unknown
Multiplex
Unknown
SHANK1,CLEC11A
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14-0139-001
RT-qPCR or WGS
De novo
PLA2G4C-AS1,CARD8-AS1,EMP3,KDELR1,SPACA4,RPL18,DBP,NTN5,FUT2,MAMSTR,FUT1,FGF21,RNU6-317P,NUCB1-AS1,FTL,MIR6798,LHB,CGB3,NTF6A,NTF6G,CGB2,CGB1,NTF6B,CGB5,CGB8,CGB7,NTF4,RN7SL708P,LIN7B,C19orf73,SLC6A21P,SUMO1P4,MIR4324,CD37,PTH2,GFY,RPL13A,SNORD32A,SNORD33,SNORD34,SNORD35A,RPS11,SNORD35B,MIR150,COX6CP7,PRRG2,RRAS,BCL2L12,MIR5088,ADM5,RNU6-841P,MIR6799,MIR6800,MIR4749,PTOV1-AS2,TBC1D17,MIR4750,ATF5,MIR4751,IZUMO2,NAPSB,FAM71E1,JOSD2,ELSPBP1,CABP5,LIG1,ZSWIM9,ZNF114-AS1,ZNF114,CCDC114,TMEM143,GRIN2D,GRWD1,KCNJ14,CYTH2,SULT2B1,FAM83E,CA11,SEC1P,RASIP1,IZUMO1,BCAT2,HSD17B14,PLEKHA4,PPP1R15A,NUCB1,DHDH,BAX,GYS1,RUVBL2,KCNA7,SNRNP70,PPFIA3,TRPM4,SLC6A16,TEAD2,DKKL1,SLC17A7,PIH1D1,ALDH16A1,FLT3LG,FCGRT,NOSIP,PRR12,SCAF1,IRF3,CPT1C,TSKS,AP2A1,MED25,PTOV1-AS1,PTOV1,PNKP,AKT1S1,IL4I1,NUP62,SIGLEC11,SIGLEC16,VRK3,ZNF473,NAPSA,POLD1,SPIB,EMC10,ASPDH,LRRC4B,BSPH1,PLA2G4C,SYNGR4,LMTK3,SPHK2,TULP2,HRC,CCDC155,RCN3,PRMT1,FUZ,MYH14,MYBPC2,CARD8,KCNC3,NR1H2
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB191910_1007853321
Unknown
VSIG10L,CLDND2,NKG7,C19orf84,NIFKP6,ETFB,SIGLEC10,LIM2
engchuan_15_ASD_discovery_controls-controlB240249_1007873508
Unknown
IZUMO2,MYH14
engchuan_15_ASD_discovery_controls-controlB428062_1007840509
Unknown
ZNF841,ZNF616,ZNF432
engchuan_15_ASD_discovery_controls-controlB445877_1007854331
Unknown
FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
engchuan_15_ASD_discovery_controls-controlB543816_1007853746
Unknown
SLC6A21P
engchuan_15_ASD_discovery_controls-controlB853244_1007844851
Unknown
NUCB1-AS1,NUCB1,TULP2
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
Unknown
FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
engchuan_15_ASD_discovery_controls-controlB994805_1007853994
Unknown
FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
engchuan_15_ASD_discovery_controls-controlHABC_900097_900097
Unknown
IZUMO2
engchuan_15_ASD_discovery_controls-controlHABC_902536_902536
Unknown
FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
engchuan_15_ASD_discovery_controls-controlHABC_902538_902538
Unknown
FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
girirajan_11_ASD_discovery_controls-NIMH_182
Unknown
FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
girirajan_13b_ASD_discovery_controls-28706106413
Unknown
NTN5,FUT2,MAMSTR,SEC1P,RASIP1,IZUMO1
girirajan_13b_ASD_discovery_controls-29606106442
Unknown
NTN5,FUT2,MAMSTR,SEC1P,RASIP1
krumm_13_ASD_discovery_controls-control11304.s1
aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
GYS1,RUVBL2
krumm_13_ASD_discovery_controls-control13296.s1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
TRPM4
krumm_15_ASD_discovery_controls-control11304.s1
Illumina 1M
Paternal
GYS1,RUVBL2
krumm_15_ASD_discovery_controls-control11494.s1
Illumina 1MDuo
Paternal
NUCB1-AS1,NUCB1,DHDH,TULP2
krumm_15_ASD_discovery_controls-control13015.s1
Illumina 1MDuo
Maternal
MYBPC2
krumm_15_ASD_discovery_controls-control13901.s1
Omni2.5-4v1
Maternal
NOSIP,RCN3
krumm_15_ASD_discovery_controls-control14211.s1
Omni2.5-4v1
Paternal
GYS1,RUVBL2
levy_11_ASD_discovery_controls-11494.s1
Paternal
Simplex
NA
NUCB1-AS1,NUCB1,TULP2
levy_11_ASD_discovery_controls-11518.s1
Maternal
Simplex
NA
FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
levy_11_ASD_discovery_controls-12303.s1
Paternal
Simplex
NA
SIGLEC17P,SIGLEC9,SIGLEC7
sanders_11_ASD_discovery_controls-11121.s1
Both parents
Simplex (quad)
NA
FUT2,SEC1P
sanders_11_ASD_discovery_controls-11176.s1
Both parents
Simplex (quad)
NA
FUT2,SEC1P
sanders_11_ASD_discovery_controls-11178.s1
Paternal
Simplex (quad)
NA
SIGLEC11
sanders_11_ASD_discovery_controls-11257.s1
Maternal
Simplex (quad)
NA
GPR32P1
sanders_11_ASD_discovery_controls-11365.s1
Paternal
Simplex (quad)
NA
SIGLEC11
sanders_11_ASD_discovery_controls-11494.s1
Paternal
Simplex (quad)
NA
NUCB1-AS1,NUCB1,DHDH,TULP2
sanders_11_ASD_discovery_controls-11518.s1
Maternal
Simplex (quad)
NA
FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
sanders_11_ASD_discovery_controls-11572.s1
Paternal
Simplex (quad)
NA
GPR32P1
sanders_11_ASD_discovery_controls-11794.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11818.s1
Unknown
Simplex (quad)
NA
RCN3
sanders_11_ASD_discovery_controls-11916.s1
Paternal
Simplex (quad)
NA
SIGLEC11
sanders_11_ASD_discovery_controls-11986.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12303.s1
Paternal
Simplex (quad)
NA
SIGLEC17P,SIGLEC7
sanders_11_ASD_discovery_controls-12321.s1
Unknown
Simplex (quad)
NA
RCN3
sanders_11_ASD_discovery_controls-12638.s1
Unknown
Simplex (quad)
NA
RCN3
sanders_11_ASD_discovery_controls-12969.s1
Both parents
Simplex (quad)
NA
FUT2
sanders_11_ASD_discovery_controls-13072.s1
Maternal
Simplex (quad)
NA
RCN3
No Animal Model Data Available