13q31.3CNV Type: Deletion-Duplication
Largest CNV size: 407254 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
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
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.
Duplication
Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17~92 cluster.
Duplication
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Duplication
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
63042
1
0
1
egle_16_DD/ID_discovery_cases
Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
66
All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
N/A
N/A
800000
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
456885
8
3
11
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
76031
1
0
1
hemmat_14_ASD/DD/ADHD_discovery_cases
9-year-old male proband from a pedigree with five maternal half-brothers presenting with autism and developmental delay; their mother also presented with developmental delay
1
Case presented with autism spectrum disorder (ASD), developmental delay (DD), speech delay, attention deficit hyperactivity disorder (ADHD), dysmorphic features, short stature, and digital abnormalities.
9 yrs.
Male
516000
0
1
1
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
65137
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
2123578
5
0
5
kannu_13_DD/ASD_discovery_cases
Male proband re-referred to genetics lab at age of 3 years for assessment of autism.
1
Developmental delay, autistic behavior, postaxial polydactyly, and overgrowth
4.5 yrs.
Male
909500
0
1
1
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
89455
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
407254
0
3
3
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
126859
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
352931
5
5
10
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
303879
1
0
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
357582
1
2
3
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
5680
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egle_16_DD/ID_discovery_controls
CNVs from the Database of Genomic Variants (DGV)
N/A
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
464514
5
3
8
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
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
89455
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
352931
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.
236768
2
1
3
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
5680
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
egle_16_DD/ID_discovery_cases
Lithuania
aCGH
Agilent 60K, Agilent 105K, or Agilent 1M
ADM-2
Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
FISH or RT-PCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
hemmat_14_ASD/DD/ADHD_discovery_cases
N/A
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS v.2.0
FISH
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
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
kannu_13_DD/ASD_discovery_cases
Caucasian
aCGH
SignatureChipOS 105K array (Agilent)
aCGH, QMPSF
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
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
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
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
egle_16_DD/ID_discovery_controls
N/A
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
larson_17_ASD_discovery_controls
N/A
N/A
N/A
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
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
chehbani_22_ASD_discovery_cases-case21
NA
F
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
93667350
93730391
63042
GRCh38
Deletion
No
egle_16_DD/ID_discovery_cases-case14_1
19 yrs.
F
Intellectual disability
Arnold-Chiari deformation, strabismus, nystagmus, tall stature, facial asymmetry, arachnodactyly, rough hair
Intellectual disability
90514494
91358647
844154
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case2201_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
92953830
93034129
80300
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3148_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93916025
94010796
94772
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3429_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89829165
89992703
163539
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4255_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89776939
90233824
456886
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4418_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93496629
93540099
43471
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4420_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93382681
93544963
162283
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4508_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
94323534
94371977
48444
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5115_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
94137490
94264348
126859
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5291_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89807811
89866658
58848
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5355_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
91511103
91616592
105490
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8472_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
91039773
91155826
116054
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-AU1165302
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
94024844
94100875
76032
GRCh38
Deletion
No
hemmat_14_ASD/DD/ADHD_discovery_cases-case1
9 yrs.
M
ASD, DD, and ADHD
Birth/neonatal history: born at full term via vaginal delivery to a G4P4A0L4 25-year-old mother without any known maternal complications or infections; birth weight of 3580 g; no prenatal, perinatal, or postnatal complications noted. Developmental milestones: walking at 12 months; did not speak words until age of 3 years. Language and communication evaluation: speech delay. Motor and musculoskeletal evaluation: metacarpal and metatarsal anomalies, flat feet, lower facial weakness; digit anomalies including brachydactyly, wide nail beds, deviation of fourth digits to the ulnar side, radially displaced thumbs, mild clinodactyly; hand breadth, hand length, and hand circumference were <1% for age and gender. Behavioral/psychiatric evaluation: autism spectrum disorder, attention deficit hyperactivity disorder. Dysmorphic features: hypertelorism, downward slanting palpebral fissures, frequent dental caries. Growth parameters: short stature (10th %ile), mild macrocephaly in relation to body size. Family history: mother with short stature, digital abnormalities, and developmental delay (positive for 13q31.3 duplication); case had five half-brothers resulting from his mother's four different marriages, all of whom reported to exhibit developmental delay and autism; one half-brother also presented with short stature and digital abnormalities.
Developmental delay; interventions included speech and physical therapy, an individualized education plan, and special education for diagnoses of developmental delay and ASD.
91337007
91852603
515597
GRCh38
Duplication
Yes
itsara_10_ASD_discovery_cases-HI1493
NA
NA
Autism
NA
NA
90300119
90365256
65138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000244
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
91615056
91879009
263954
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001622
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
90973752
93097331
2123580
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003974
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
90215412
91366486
1151075
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004338
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
91431897
91628212
196316
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005097
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
93345058
93629454
284397
GRCh38
Deletion
Yes
kannu_13_DD/ASD_discovery_cases-case1
4.5 yrs.
M
Developmental delay and autistic behavior
Case re-referred at age of 3 years for assessment of autism (no formal diagnosis of ASD noted). Birth/neonatal history: born at 33 weeks 3 days gestation by C-section; pregnancy complicated by type II diabetes, hypertension, and oligohydramnios; mother (41 years old at time of delivery) given single dose of corticosteroids prior to delivery; birth weight of 1813 g (25th %ile), lenght of 40 cm (3rd %ile), and head circumference of 32 cm (25th %ile); telecanthus and bilateral postaxial polydactyly (which was later ligated) noted; cranial ultrasound revealed right choroid plexus cyst; echocardiogram disclosed patent ductus ateriosis and two small secundum atrial septal defects; normal male karyotype (46, XY), 22q11.2 microdeletion excluded by FISH analysis; neonatal course otherwise relatively benign. Developmental milestones: development concerns noted at age of 11 months (slept poorly at night, did not vocalize); formal developmental assessment at age of 2 years suggested autistic behavior and developmental delay; non-verbal and did not use gestures to communicate; delays in gross motor development (difficulties in climbing stairs, running, throwing, or catching a ball). Language and communication evaluation: few single words in vocabulary. Behavioral/psychiatric evaluation: autistic behavior suggested at age of 2 years; preferred playing by himself, easily upset by other children, easily startled by sound, adapted poorly to change, failure to respond to name, failure to demonstrate stranger anxiety or imitation skills. Brain imaging: cerebral MRI at age of 4 years showed no structural brain abnormalities. Other medical history: bilateral inguinal hernia surgery at age of 2 years 11 months; recurrent wheeze with respiratory infections. Dysmorphic features: prominent, posteriorly-rotated, low-set ears, bilateral epicanthic folds, up-slanting palpebral fissures, prominent teeth, high-arched palate, prominent jaw. Growth parameters: weight of 17.1 kg (75th-90th %ile), height of 116 cm (>97th %ile), and OFC of 51 cm (10th %ile) at age of 4.5 years. Family history: one of a sibship of two (21-year-old sibling is healthy and does not carry 13q31.3 duplication); mother with history of post-axial polydactyly (ligated as neonate), social awkwardness and mood disorder.
Developmental delay; case making slow progress with development at age of 4.5 years.
90867746
91777746
910001
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case88
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
92306848
92396303
89456
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0048-000
NA
M
ASD
NA
NA
93838266
93894346
56081
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0326-003
NA
M
ASD
NA
NA
94047145
94282676
235532
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0326-003
NA
M
ASD
NA
NA
90276711
90683964
407254
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5115_3
NA
M
ASD
NA
NA
94137490
94264348
126859
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case102830
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
90958823
91067952
109130
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case110953
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
89661145
89665867
4723
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case138145L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
91325119
91347213
22095
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case146442L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
91146602
91160878
14277
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case146449L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
88810171
88818771
8601
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case55634
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
89255637
89314434
58798
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case81155
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
93509199
93721180
211982
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case81155
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
89732291
90085221
352931
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-caseL879
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
92194931
92202851
7921
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-caseMM0234-5
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
93594054
93714629
120576
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1303-0
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: yes.
93470922
93774800
303879
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11284.p1
8.3
M
ASD
NA
Full-scale IQ, 122; non-verbal IQ, 117; verbal IQ, 125
89764094
89838629
74536
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11522.p1
11.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 79; verbal IQ, 60
90756385
90805005
48621
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11868.p1
7.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
92019615
92377197
357583
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case451
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
92387559
92393238
5680
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036004877_
N/A
N/A
Control
No previous psychiatric history
89769310
90233824
464515
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
N/A
N/A
Control
No previous psychiatric history
91409624
91649607
239984
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB776367_1007875364
N/A
N/A
Control
No previous psychiatric history
92308440
92391120
82681
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900157_900157
N/A
N/A
Control
No previous psychiatric history
91977218
92202881
225664
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900157_900157
N/A
N/A
Control
No previous psychiatric history
92246199
92516160
269962
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900839_900839
N/A
N/A
Control
No previous psychiatric history
92632408
92698970
66563
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900904_900904
N/A
N/A
Control
No previous psychiatric history
91409624
91649607
239984
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901214_901214
N/A
N/A
Control
No previous psychiatric history
89769310
90233824
464515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11284.s1
7.1
F
Control (matched sibling)
NA
NA
89764094
89838629
74536
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11522.s1
15.6
M
Control (matched sibling)
NA
NA
90756385
90804614
48230
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11843.s1
16.9
F
Control (matched sibling)
NA
NA
91412839
91649607
236769
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chehbani_22_ASD_discovery_cases-case21
Unknown
Simplex
GPC6
egle_16_DD/ID_discovery_cases-case14_1
FISH or RT-PCR
De novo
RNU6-75P,BRK1P2,LINC00380,PPIAP23,MIR17HG,MIR17,MIR18A,MIR19A,MIR20A,MIR19B1,MIR92A1,LINC01049,LINC00410,LINC00379
engchuan_15_ASD_discovery_cases-case2201_1
Unknown
engchuan_15_ASD_discovery_cases-case3148_4
Unknown
GPC6
engchuan_15_ASD_discovery_cases-case3429_3
Unknown
PEX12P1,RPL7L1P1
engchuan_15_ASD_discovery_cases-case4255_1
Unknown
PEX12P1,RNA5SP34,FAR1P1,KRT18P27,MIR622,RPL7L1P1,LINC00559
engchuan_15_ASD_discovery_cases-case4418_1
Unknown
GPC6
engchuan_15_ASD_discovery_cases-case4420_1
Unknown
HNRNPA1P29,GPC6
engchuan_15_ASD_discovery_cases-case4508_1
Unknown
GPC6
engchuan_15_ASD_discovery_cases-case5115_3
Unknown
GPC6-AS1,GPC6
engchuan_15_ASD_discovery_cases-case5291_4
Unknown
RPL7L1P1
engchuan_15_ASD_discovery_cases-case5355_3
Unknown
GPC5
engchuan_15_ASD_discovery_cases-case8472_201
Unknown
LINC00380,LINC00379
girirajan_13a_ASD_discovery_cases-AU1165302
Unknown
Multiplex
Unknown
RNA5SP35,GPC6
hemmat_14_ASD/DD/ADHD_discovery_cases-case1
FISH
Possibly maternal
Maternal
Multiplex
Not segregated (not all ASD-affected siblings carry 13q31.3 duplication)
MIR17HG,MIR17,MIR18A,MIR19A,MIR20A,MIR19B1,MIR92A1,GPC5
itsara_10_ASD_discovery_cases-HI1493
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000244
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GPC5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001622
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
BRK1P2,LINC00380,PPIAP23,MIR17HG,MIR17,MIR18A,MIR19A,MIR20A,MIR19B1,MIR92A1,RNU4ATAC3P,FABP5P4,MIR548AS,LINC00363,LINC00379,GPC5-AS2,GPC5-IT1,GPC5-AS1,GPC5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003974
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
KRT18P27,MIR622,RNU6-75P,BRK1P2,LINC00380,PPIAP23,MIR17HG,MIR17,MIR18A,MIR19A,MIR20A,MIR19B1,MIR92A1,LINC01049,LINC00410,LINC00379
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004338
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GPC5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005097
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HNRNPA1P29,GPC6
kannu_13_DD/ASD_discovery_cases-case1
aCGH, QMPSF
Maternal
Maternal
Possibly multi-generational
Segregated
BRK1P2,LINC00380,PPIAP23,MIR17HG,MIR17,MIR18A,MIR19A,MIR20A,MIR19B1,MIR92A1,LINC00410,LINC00379,GPC5
larson_17_ASD_discovery_cases-case88
Unknown
Unknown
GPC5-AS2,GPC5
marshall_08_ASD_discovery_cases-NA0048-000
qPCR, qmPCR
Unknown
NA
NA
GPC6
marshall_08_ASD_discovery_cases-SK0326-003
qPCR, qmPCR
Unknown
NA
NA
GPC6-AS1,GPC6
marshall_08_ASD_discovery_cases-SK0326-003
qPCR, qmPCR
Unknown
NA
NA
LINC01049
pinto_10_ASD_discovery_cases-case5115_3
Agilent1M
paternal
NA
NA
GPC6-AS1,GPC6
prasad_12_ASD_discovery_cases-case102830
Unknown
Unknown
Unknown
GPC5
prasad_12_ASD_discovery_cases-case110953
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case138145L
Unknown
Unknown
Unknown
GPC5
prasad_12_ASD_discovery_cases-case146442L
Unknown
Unknown
Unknown
GPC5
prasad_12_ASD_discovery_cases-case146449L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case55634
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case81155
Unknown
Unknown
Unknown
GPC6
prasad_12_ASD_discovery_cases-case81155
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-caseL879
Unknown
Unknown
Unknown
GPC5
prasad_12_ASD_discovery_cases-caseMM0234-5
Unknown
Unknown
Unknown
GPC6
sajan_13_ACC/CBLH/PMG_discovery_cases-case1303-0
Not tested by qPCR
Unknown
Unknown
Unknown
GPC6
sanders_11_ASD_discovery_cases-11284.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPL7L1P1
sanders_11_ASD_discovery_cases-11522.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-75P
sanders_11_ASD_discovery_cases-11868.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU4ATAC3P,FABP5P4,GPC5-AS2,GPC5
yin_16_ASD_discovery_cases-case451
Unknown
Unknown
Unknown
GPC5
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036004877_
Unknown
PEX12P1,RNA5SP34,FAR1P1,KRT18P27,MIR622,RPL7L1P1,LINC00559
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
Unknown
GPC5
engchuan_15_ASD_discovery_controls-controlB776367_1007875364
Unknown
GPC5-AS2,GPC5
engchuan_15_ASD_discovery_controls-controlHABC_900157_900157
Unknown
RNU4ATAC3P,FABP5P4,GPC5
engchuan_15_ASD_discovery_controls-controlHABC_900157_900157
Unknown
MIR548AS,GPC5-AS2,GPC5-IT1,GPC5
engchuan_15_ASD_discovery_controls-controlHABC_900839_900839
Unknown
GPC5
engchuan_15_ASD_discovery_controls-controlHABC_900904_900904
Unknown
GPC5
engchuan_15_ASD_discovery_controls-controlHABC_901214_901214
Unknown
PEX12P1,RNA5SP34,FAR1P1,KRT18P27,MIR622,RPL7L1P1,LINC00559
sanders_11_ASD_discovery_controls-11284.s1
Maternal
Simplex (quad)
NA
RPL7L1P1
sanders_11_ASD_discovery_controls-11522.s1
Paternal
Simplex (quad)
NA
RNU6-75P
sanders_11_ASD_discovery_controls-11843.s1
Paternal
Simplex (quad)
NA
GPC5
No Animal Model Data Available