3p12.3CNV Type: Deletion-Duplication
Largest CNV size: 584948 bp
Statistics Box:
Number of Reports: 23
Number of Reports: 23
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-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.
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Identification of rare copy number variants in high burden schizophrenia families.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
212800
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
135709
1
0
1
dabell_13_ASD/DD/ID_discovery_cases
Prenatal and postnatal patients tested between Feb. 2008 and June 2012 by Signature Genomics Laboratories using aCGH platforms providing coverage over NRXN1
30065
Most common indications for study: intellectual disability (ID), developmental delay (DD), and/or multiple congenital anomalies
N/A
N/A
2915786
1
0
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
107704
1
1
2
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
93000
2
0
2
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
152392
3
1
4
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
103829
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
690430
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
1663067
2
5
7
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
147988
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
147988
0
1
1
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
36380
1
0
1
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
176977
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
31466
1
0
1
li_18_ASD_discovery_cases
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
13
Diagnosis of ASD made according to DSM-IV
Mean age, 4.56 0.97 years
92.31% Male
257413
1
0
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
55000
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
149824
2
0
2
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
122954
5
1
6
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
165328
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
81512
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
584948
14
8
22
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
1218000
0
2
2
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
1218000
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
291426
1
12
13
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
97907
5
3
8
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
348156
1
0
1
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
1138458
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
11636
1
0
1
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
146788
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
146788
0
1
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
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
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)
2084755
1
1
2
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)
122954
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.
326225
6
8
14
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
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
291426
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
dabell_13_ASD/DD/ID_discovery_cases
N/A
aCGH
Signature Genomics SignatureChip OS v1.0 (105K), v2.0 (135K), or v3.0 (135K) (manufactured by Agilent) or BACs aCGH
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_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
aCGH (NimbleGen 135K array)
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)
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
li_18_ASD_discovery_cases
Chinese
Low-coverage WGS
Illumina HiSeq 2000 or 2500 analyzers
PSCC
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
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
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
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
qPCR
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)
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
75377944
75590743
212800
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case152
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
76724319
76860027
135709
GRCh38
Deletion
No
dabell_13_ASD/DD/ID_discovery_cases-patient26
15 mos.
F
Developmental delay
Indication for study: developmental delay. Neurological features: developmental delay, hypotonia, myoclonic choreiform movements, normal EEG. Behavioral features: short attention span. Dysmorphic features: midface hypoplasia, depressed nasal bridge, low posterior hairline, hypo-/hyperpigmentation patterns. Ophthalmologic features: strabismus. Skeletal/joint features: none. Other anomalies: none. Growth parameters: height 10th-25th %ile; weight 5th %ile; OFC 50th %ile. Family history: mother (not tested) with learning disability.
Developmental delay
76354051
79269838
2915788
GRCh38
Deletion
No
davis_09_ASD_discovery_cases-AU0616304
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
76731528
76839232
107704
Unknown
Deletion
No
davis_09_ASD_discovery_cases-AU0616304
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
76839232
76904813
65581
Unknown
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300159
N/A
F
Developmental delay/intellectual disability
76582825
76675575
92751
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300213
N/A
M
Developmental delay/intellectual disability
76500732
76582884
82153
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14023_480
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
80592951
80696166
103216
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16042_1571055001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
74936368
74994078
57711
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1962_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
75519068
75671460
152393
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)
79199678
79253680
54003
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU0616303
Autism
76735829
76839657
103829
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0616304
Autism
76735829
76839657
103829
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-13094.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
78168697
78859128
690432
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001228
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
78221882
79465461
1243580
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002031
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
76974990
77050465
75476
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004508
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
79595164
81258230
1663067
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004721
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
74671601
75422736
751136
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004850
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80367579
80994156
626578
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005080
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80367579
80994156
626578
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005333
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
78139492
78690548
551057
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case13094.p1
N/A
M
ASD
ASD proband from SSC quad family 13094. SRS score of 67.
Full-scale IQ (FSIQ) score of 71.
78598912
78746900
147989
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case13094.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
78598912
78746900
147989
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD1709
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
74454818
74491197
36380
GRCh38
Deletion
Yes
leblond_12_ASD_replication_cases-Pintocase5237_3
NA
M
Autism
Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
Below average non-verbal IQ (<1st %ile)
75370585
75547561
176977
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11479.p1
NA
M
ASD
NA
NA
80525509
80556974
31466
GRCh38
Deletion
Yes
li_18_ASD_discovery_cases-case6501
N/A
M
ASD
Diagnosis of ASD made according to DSM-IV
76665600
76923013
257414
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0152-003
NA
M
ASD
RL/EL moderate/sever delay, severe speech unintelligibility, moderate repetitive behavior, hypotonia
LOF 31
78770160
78825160
55001
GRCh38
Duplication
Yes
morrow_08_ASD_discovery_cases-case5801
NA
ASD
NA
NA
75476955
75626779
149824
Unknown
Homozygous deletion
Yes
prasad_12_ASD_discovery_cases-case156900
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
77559671
77571280
11610
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case52335
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
77559671
77571280
11610
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case60674-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
76160647
76217454
56808
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case63206
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
76166633
76177715
11083
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case85179L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
78905287
78969329
64043
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case96280L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
80897319
81020272
122954
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_611
1 yr.
M
Developmental delay
Incomplete parental clinical history.
Global developmental delay
79401309
79566636
165328
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-044
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
75737289
75818800
81512
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11059.p1
6.6
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 103; verbal IQ, 119
76866702
76891304
24603
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
76034795
76045070
10276
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11085.p1
10.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 68; verbal IQ, 51
75512190
75584997
72808
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11167.p1
11
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
79926310
80511258
584949
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11250.p1
14.8
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
77712985
77715949
2965
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11252.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
77138890
77151014
12125
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11283.p1
12
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
75523048
75587819
64772
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11343.p1
8.3
M
ASD
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
75537504
75587819
50316
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11696.p1
13.6
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
76702861
76804177
101317
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
76034795
76045070
10276
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
75512190
75587819
75630
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12063.p1
8.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 96; verbal IQ, 82
77431650
77436987
5338
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12087.p1
5.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 108
78378749
78422040
43292
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12228.p1
6.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 117; verbal IQ, 90
75478991
75587819
108829
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12252.p1
7.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
81545430
81592980
47551
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12265.p1
6.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 96; verbal IQ, 78
74496626
74557869
61244
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12379.p1
7.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
75537504
75587819
50316
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12507.p1
18
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 73; verbal IQ, 100
80495233
80511258
16026
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12534.p1
7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
77659454
77665681
6228
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12888.p1
5.5
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19
75555318
75587819
32502
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12939.p1
12.8
M
Autism
NA
Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
75098965
75117345
18381
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13013.p1
8.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
76019242
76048743
29502
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK40
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
75622820
75858903
236084
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseSAI36
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
75044179
76262148
1217970
GRCh38
Duplication
No
soueid_16_DD/ID_discovery_cases-case8
N/A
N/A
Developmental delay/intellectual disability
75044179
76262148
1217970
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case103
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
75590344
75881769
291426
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case104
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
75590344
75881769
291426
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case105
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
75590344
75881769
291426
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case106
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
75590344
75881769
291426
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case107
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
75590344
75881769
291426
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case108
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
75590344
75881769
291426
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case109
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
75590344
75881769
291426
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case110
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
75590344
75881769
291426
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case111
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
75590344
75881769
291426
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case112
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
75590344
75881769
291426
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case113
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
76024472
76048843
24372
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case114
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
77202032
77258121
56090
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case115
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
79391504
79647258
255755
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036023638_
N/A
N/A
Control
No previous psychiatric history
76731340
76776531
45192
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB272356_1007841423
N/A
N/A
Control
No previous psychiatric history
80487091
80536305
49215
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB395840_1007872297
N/A
N/A
Control
No previous psychiatric history
74929678
75002411
72734
GRCh38
Homozygous deletion
No
engchuan_15_ASD_discovery_controls-controlB855930_1007853688
N/A
N/A
Control
No previous psychiatric history
80732575
80784023
51449
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900029_900029
N/A
N/A
Control
No previous psychiatric history
76965347
77004364
39018
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902564_902564
N/A
N/A
Control
No previous psychiatric history
76166494
76264401
97908
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902851_902851
N/A
N/A
Control
No previous psychiatric history
79613927
79697112
83186
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-11010113049
N/A
N/A
Control
Ethnicity: Caucasian
N/A
75590911
75939067
348157
GRCh38
Deletion
No
guo_17_ASD_discovery_controls-controlPY1296
N/A
N/A
Control
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
74468262
75606719
1138458
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_controls-control_split437
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
75457858
75469493
11636
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control13094.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13094. SRS score of 45.
78600112
78746900
146789
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control13094.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
78600112
78746900
146789
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C36576A
N/A
M
Control
NIMH Control (NIMH ID 91174)
77040784
79125539
2084756
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C41920
N/A
M
Control
NIMH Control (NIMH ID 55831)
77477412
77644906
167495
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11252.s1
11.4
M
Control (matched sibling)
NA
NA
77138890
77151014
12125
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11696.s1
16.8
M
Control (matched sibling)
NA
NA
76702861
76808814
105954
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11724.s1
14.5
F
Control (matched sibling)
NA
NA
78369889
78394901
25013
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11920.s1
18.3
M
Control (matched sibling)
NA
NA
79051880
79065931
14052
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11924.s1
9.7
F
Control (matched sibling)
NA
NA
75173786
75500011
326226
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11940.s1
6.5
M
Control (matched sibling)
NA
NA
75555318
75570510
15193
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12063.s1
11.8
F
Control (matched sibling)
NA
NA
77431650
77436987
5338
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12233.s1
6.8
F
Control (matched sibling)
NA
NA
75537504
75568684
31181
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12252.s1
4.1
M
Control (matched sibling)
NA
NA
81545430
81595760
50331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12275.s1
8.4
M
Control (matched sibling)
NA
NA
75570510
75587819
17310
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12888.s1
10.5
F
Control (matched sibling)
NA
NA
75570510
75587819
17310
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
75098965
75117345
18381
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13051.s1
9.4
F
Control (matched sibling)
NA
NA
75555318
75587819
32502
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13072.s1
8.7
F
Control (matched sibling)
NA
NA
75555318
75587819
32502
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chung_11_ASD_discovery_cases-proband
Paternal
Simplex
NA
LSP1P2,SNRPCP10,RPS3AP15,ALG1L6P,FAM86DP,LINC02018,ENPP7P2
cucinotta_23_ASD_discovery_cases-case152
Paternal
ROBO2
dabell_13_ASD/DD/ID_discovery_cases-patient26
Unknown
Unknown
Unknown
RNU6-386P,VDAC1P7,RNU6-217P,LINC02077,RN7SL647P,RN7SKP61,MRPS17P3,RN7SL751P,ROBO2,ROBO1
davis_09_ASD_discovery_cases-AU0616304
Unknown
Unknown
Unknown
0 genes
davis_09_ASD_discovery_cases-AU0616304
Unknown
Unknown
Unknown
0 genes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300159
Paternal
ROBO2
digregorio_17_DD/ID_discovery_cases-DECIPHER_300213
Unknown
ROBO2
engchuan_15_ASD_discovery_cases-case14023_480
Unknown
engchuan_15_ASD_discovery_cases-case16042_1571055001
Unknown
engchuan_15_ASD_discovery_cases-case1962_301
Unknown
SNRPCP10,RPS3AP15,OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,RPL23AP49
engchuan_15_ASD_discovery_cases-case4224_1
Unknown
ROBO1
gai_11_ASD_replication_cases-AU0616303
Inherited
0 genes
gai_11_ASD_replication_cases-AU0616304
Inherited
0 genes
girirajan_13a_ASD_discovery_cases-13094.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MRPS17P3,ROBO1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001228
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MRPS17P3,RN7SL751P,ROBO1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002031
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ROBO2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004508
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
HMGB1P38,OSBPL9P1,HNRNPA3P8,LINC02050,LINC02027,ROBO1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004721
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NIPA2P2,RN7SL294P,MIR4444-2,HNRNPA3P6,OR7E66P,OR7E22P,OR7E55P,LSP1P2,MYLKP1,ALG1L6P,FAM86DP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004850
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
LINC02050,LINC02027
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005080
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02050,LINC02027
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005333
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SKP61,MRPS17P3,ROBO1
krumm_13_ASD_discovery_cases-case13094.p1
Paternal
Simplex
Not segregated
ROBO1
krumm_15_ASD_discovery_cases-case13094.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ROBO1
kushima_22_BPD_discovery_cases-caseBD1709
qRT-PCR
Unknown
CNTN3
leblond_12_ASD_replication_cases-Pintocase5237_3
Maternal
OR7E55P,LSP1P2,SNRPCP10,RPS3AP15,ALG1L6P,FAM86DP,LINC02018,ENPP7P2
levy_11_ASD_discovery_cases-11479.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
li_18_ASD_discovery_cases-case6501
Unknown
Simplex
Unknown
ROBO2
marshall_08_ASD_discovery_cases-SK0152-003
qPCR, qmPCR
Unknown
NA
NA
ROBO1
morrow_08_ASD_discovery_cases-case5801
PCR
Both parents
NA
NA
Noncoding nearest 5' of CNTN3
prasad_12_ASD_discovery_cases-case156900
qPCR
Maternal
Multiplex
Not segregated (deletion present in unaffected sibling)
ROBO2
prasad_12_ASD_discovery_cases-case52335
qPCR
Unknown
Multiplex
Segregated
ROBO2
prasad_12_ASD_discovery_cases-case60674-L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case63206
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case85179L
Unknown
Unknown
Unknown
ROBO1
prasad_12_ASD_discovery_cases-case96280L
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_611
Maternal
Unknown
MIR3923,ROBO1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-044
Not tested by qPCR
Unknown
Unknown
Unknown
MIR4273,ZNF717
sanders_11_ASD_discovery_cases-11059.p1
Paternal
Simplex (quad-proband matched)
Segregated
ROBO2
sanders_11_ASD_discovery_cases-11073.p1
Maternal
Simplex (quad-proband matched)
Segregated
ROBO2
sanders_11_ASD_discovery_cases-11085.p1
Unknown
Simplex (quad-proband matched)
Segregated
SNRPCP10,RPS3AP15
sanders_11_ASD_discovery_cases-11167.p1
Paternal
Simplex (quad-proband matched)
Segregated
HMGB1P38,OSBPL9P1,HNRNPA3P8
sanders_11_ASD_discovery_cases-11250.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11252.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ROBO2
sanders_11_ASD_discovery_cases-11283.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
RPS3AP15
sanders_11_ASD_discovery_cases-11343.p1
Paternal
Simplex (trio)
NA
RPS3AP15
sanders_11_ASD_discovery_cases-11696.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ROBO2
sanders_11_ASD_discovery_cases-11794.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ROBO2
sanders_11_ASD_discovery_cases-12052.p1
Unknown
Simplex (quad-proband matched)
Segregated
SNRPCP10,RPS3AP15
sanders_11_ASD_discovery_cases-12063.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ROBO2
sanders_11_ASD_discovery_cases-12087.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12228.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNRPCP10,RPS3AP15,ENPP7P2
sanders_11_ASD_discovery_cases-12252.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GBE1
sanders_11_ASD_discovery_cases-12265.p1
Unknown
Simplex (trio)
NA
CNTN3
sanders_11_ASD_discovery_cases-12379.p1
Unknown
Simplex (trio)
NA
RPS3AP15
sanders_11_ASD_discovery_cases-12507.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12534.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12888.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12939.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13013.p1
Paternal
Simplex (trio)
NA
ROBO2
soueid_16_ASD_discovery_cases-caseBAK40
De novo
Simplex
UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
soueid_16_ASD_discovery_cases-caseSAI36
Paternal
NIPA2P2,RN7SL294P,MIR4444-2,HNRNPA3P6,OR7E66P,OR7E22P,OR7E55P,LSP1P2,SNRPCP10,RPS3AP15,OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,MYLKP1,ALG1L6P,FAM86DP,LINC02018,ENPP7P2,LINC00960,RPL23AP49,ZNF717,ROBO2
soueid_16_DD/ID_discovery_cases-case8
Unknown
Unknown
Unknown
NIPA2P2,RN7SL294P,MIR4444-2,HNRNPA3P6,OR7E66P,OR7E22P,OR7E55P,LSP1P2,SNRPCP10,RPS3AP15,OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,MYLKP1,ALG1L6P,FAM86DP,LINC02018,ENPP7P2,LINC00960,RPL23AP49,ZNF717,ROBO2
yin_16_ASD_discovery_cases-case103
Unknown
Unknown
Unknown
OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
yin_16_ASD_discovery_cases-case104
Unknown
Unknown
Unknown
OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
yin_16_ASD_discovery_cases-case105
Unknown
Unknown
Unknown
OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
yin_16_ASD_discovery_cases-case106
Unknown
Unknown
Unknown
OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
yin_16_ASD_discovery_cases-case107
Unknown
Unknown
Unknown
OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
yin_16_ASD_discovery_cases-case108
Unknown
Unknown
Unknown
OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
yin_16_ASD_discovery_cases-case109
Unknown
Unknown
Unknown
OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
yin_16_ASD_discovery_cases-case110
Unknown
Unknown
Unknown
OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
yin_16_ASD_discovery_cases-case111
Unknown
Unknown
Unknown
OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
yin_16_ASD_discovery_cases-case112
Unknown
Unknown
Unknown
OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717
yin_16_ASD_discovery_cases-case113
Unknown
Unknown
Unknown
ROBO2
yin_16_ASD_discovery_cases-case114
Unknown
Unknown
Unknown
ROBO2
yin_16_ASD_discovery_cases-case115
Unknown
Unknown
Unknown
MIR3923,ROBO1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036023638_
Unknown
ROBO2
engchuan_15_ASD_discovery_controls-controlB272356_1007841423
Unknown
engchuan_15_ASD_discovery_controls-controlB395840_1007872297
Unknown
engchuan_15_ASD_discovery_controls-controlB855930_1007853688
Unknown
LINC02050
engchuan_15_ASD_discovery_controls-controlHABC_900029_900029
Unknown
ROBO2
engchuan_15_ASD_discovery_controls-controlHABC_902564_902564
Unknown
ROBO2
engchuan_15_ASD_discovery_controls-controlHABC_902851_902851
Unknown
ROBO1
girirajan_13b_ASD_discovery_controls-11010113049
Unknown
OR7E121P,UNC93B3,CLUHP10,MIR1324,AGGF1P3,RARRES2P1,FRG2C,DUX4L26,MIR4273,LINC00960,RPL23AP49,ZNF717,ROBO2
guo_17_ASD_discovery_controls-controlPY1296
qPCR
Unknown
NIPA2P2,RN7SL294P,MIR4444-2,HNRNPA3P6,OR7E66P,OR7E22P,OR7E55P,LSP1P2,SNRPCP10,RPS3AP15,OR7E121P,MYLKP1,ALG1L6P,FAM86DP,LINC02018,ENPP7P2,CNTN3
kanduri_15_ASD_discovery_controls-control_split437
Unknown
Intergenic CNV: nearest genes, MIR4444-1(dist=194159),FAM86DP(dist=1210)
krumm_13_ASD_discovery_controls-control13094.s1
Paternal
Simplex
ROBO1
krumm_15_ASD_discovery_controls-control13094.s1
1M-Duov3
Paternal
ROBO1
poultney_13_ASD_discovery_controls-control04C36576A
Unknown
RNU6-386P,VDAC1P7,RNU6-217P,LINC02077,RN7SL647P,RN7SKP61,MRPS17P3,RN7SL751P,ROBO2,ROBO1
poultney_13_ASD_discovery_controls-control05C41920
Unknown
ROBO2
sanders_11_ASD_discovery_controls-11252.s1
Paternal
Simplex (quad)
NA
ROBO2
sanders_11_ASD_discovery_controls-11696.s1
Maternal
Simplex (quad)
NA
ROBO2
sanders_11_ASD_discovery_controls-11724.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11920.s1
Paternal
Simplex (quad)
NA
ROBO1
sanders_11_ASD_discovery_controls-11924.s1
Maternal
Simplex (quad)
NA
RN7SL294P,MIR4444-2,HNRNPA3P6,OR7E66P,OR7E22P,OR7E55P,LSP1P2,MYLKP1,ALG1L6P,FAM86DP,LINC02018,ENPP7P2
sanders_11_ASD_discovery_controls-11940.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12063.s1
Maternal
Simplex (quad)
NA
ROBO2
sanders_11_ASD_discovery_controls-12233.s1
Paternal
Simplex (quad)
NA
RPS3AP15
sanders_11_ASD_discovery_controls-12252.s1
Maternal
Simplex (quad)
NA
GBE1
sanders_11_ASD_discovery_controls-12275.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12888.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12939.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13051.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13072.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available