Xq13.1CNV Type: Deletion-Duplication
Largest CNV size: 191997 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Duplication
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...
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-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
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-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
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
154151
0
1
1
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
380000
1
0
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
62021
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
644489
0
2
2
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
595421
1
1
2
glessner_09_ASD_discovery_cases
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
859
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Range, 2-21
81.8% Male
171100
0
0
0
glessner_09_ASD_replication_cases
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
1336
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Mean, 9.2 5.3
78.7% Male
171100
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
466159
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
136184
1
1
2
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
631671
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
143536
N/A
N/A
3
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
33817
1
0
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
644490
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
191071
2
1
3
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
238723
0
12
12
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
191997
1
4
5
willemsen_12_DD/ID_discovery_cases
Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
4407
Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
2/3 of cases: age range of 1-18 yrs.
54.5% Male
575000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
250896
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_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
5595
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
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)
191071
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.
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
glessner_09_ASD_discovery_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
glessner_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
glessner_09_ASD_discovery_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
glessner_09_ASD_replication_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akkus_24_ASD/DD/ID_discovery_cases-case33C
5 yrs.
M
Developmental delay
Developmental delay
71136791
71290941
154151
GRCh38
Duplication
No
asadollahi_14_NDD_discovery_cases-case63409
N/A
F
Opitz-Bohring syndrome
Patient was diagnosed with Opitz-Bohring syndrome with pathogenic ASXL1 variant (p.Gln733X).
70869455
71249108
379654
GRCh38
Deletion
Yes
egger_14_ASD_discovery_cases-caseA38
14 yrs. (born 2000)
F
ASD
Diagnosis: high functioning autism. Co-morbidities/additional features: none reported. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Normal IQ (IQ 91)
69675062
69737082
62021
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1153_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71694813
72089071
394259
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14314_4310
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71728672
72373161
644490
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262327
N/A
F
Microcephaly and dysmorphic features
Clinodactyly of the 5th finger; Intrauterine growth retardation; Sparse scalp hair; Defect in the atrial septum; Plagiocephaly; Microcephaly; Growth delay
72490794
72875616
384823
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262397
N/A
F
Autism and ID
Autism; Obesity; Intellectual disability; Pes cavus; Hallux valgus
71903234
72498655
595422
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU075604
NA
ASD
NA
NA
71152405
71323505
171101
GRCh38
Duplication
No
glessner_09_ASD_replication_cases-AU081404
NA
ASD
NA
NA
71152405
71323505
171101
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case15D2340
3 yrs. 1 mo.
M
Developmental delay/Intellectual disability
68861722
69327880
466159
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case32
9 yrs. 10 mos.
F
Autism and intellectual disability
Autism, multiple hematomas, teeth anomalies. Karyotype: 1phqh, 9phqh.
Intellectual disability
71254865
71388263
133399
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case45
6 yrs.
M
Autism
Autism, severe speech delay, neuromuscular disorder. Karyotype: 14cenh+ps+.
Severe cognitive delay
69749540
69885731
136192
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001087
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
69880987
70415042
534056
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005037
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
69880987
70512644
631658
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12008.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
71544566
71580880
36315
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13912.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
70234695
70240290
5596
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14014.p1
N/A
N/A
ASD
Proband from the Simons Simplex Collection (SSC). Family type:
72351732
72495268
143537
GRCh38
N/A
Yes
levy_11_ASD_discovery_cases-11689.p1
NA
M
ASD
NA
NA
71159598
71193414
33817
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case14314_4310
7 yrs. 10 mos.
M
ASD
Autism on ADI-R and ADOS, language delay, verbal, no dysmorphic features or other anomalies, normal neurological exam, normal growth, no epilepsy. Negative family history (unaffected mother; three unaffected siblings).
Normal IQ (Griffiths 7 y 10 mo: language DQ 96, performance DQ 98, global DQ 100)
71728672
72373161
644490
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case153121L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
68855666
69046736
191071
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case154269L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
69365038
69378566
13529
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case168169
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
70786394
70809639
23246
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1152-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
72792148
72952079
159932
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP96-053_LP
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
72738616
72977327
238712
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP98-080
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
72768376
72977327
208952
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-044
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
72738616
72977327
238712
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-226a2
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: yes (onset at 1 day).
Developmental delay: N/A. Intellectual disability: N/A.
72738616
72977327
238712
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
Developmental delay: yes. Intellectual disability: N/A.
72738616
72896150
157535
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-342
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
72738616
72977327
238712
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-144
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
72738616
72977327
238712
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-148
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
72738616
72977327
238712
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-185
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
72738616
72977327
238712
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-419
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
72738616
72977327
238712
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-115
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
72738616
72977327
238712
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11432.p1
6.5
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
72745759
72937739
191981
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
70244558
70250809
6252
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11537.p1
14.3
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
69239016
69241140
2125
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11689.p1
13.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 87; verbal IQ, 107
71163594
71190650
27057
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
70244558
70246225
1668
GRCh38
Duplication
No
willemsen_12_DD/ID_discovery_cases-case9
M
Autism and intellectual disability
Relatively large head circumference
Severe ID
70403425
70973425
570001
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-controlB345605_1007844543
N/A
N/A
Control
No previous psychiatric history
72103250
72354146
250897
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902847_902847
N/A
N/A
Control
No previous psychiatric history
70030458
70244558
214101
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control13912.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
70234695
70240290
5596
GRCh38
Deletion
Yes
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akkus_24_ASD/DD/ID_discovery_cases-case33C
Unknown
NLGN3,GJB1,NONO,ZMYM3,MED12
asadollahi_14_NDD_discovery_cases-case63409
MLPA
Maternal
Unknown
Unknown
RPS23P8,NUTF2P7,RNU1-56P,SOCS5P4,FOXO4,IL2RG,SLC7A3,SNX12,CXorf65,MED12,NLGN3,GJB1,ZMYM3,TEX11
egger_14_ASD_discovery_cases-caseA38
Unknown
Unknown
EDA
engchuan_15_ASD_discovery_cases-case1153_4
Unknown
LINC00891,CXorf49,CXorf49B,RNU6-1078P,RPS26P11,NHSL2
engchuan_15_ASD_discovery_cases-case14314_4310
Unknown
CXorf49B,RNU6-1078P,RPS26P11,RTL5,RN7SL388P,RPS4X,CITED1,NHSL2,PIN4,ERCC6L,HDAC8
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262327
De novo
Unknown
Unknown
RNU1-112P,FAM236B,FAM236D,PHKA1-AS1,DMRTC1B,FAM226B,PHKA1,DMRTC1,HDAC8
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262397
Maternal
Simplex
Unknown
RNU6-1078P,RPS26P11,RTL5,RN7SL388P,RNU2-68P,RPS4X,CITED1,NHSL2,PIN4,ERCC6L,HDAC8
glessner_09_ASD_replication_cases-AU075604
Unknown
Unknown
NA
NLGN3,GJB1,ZMYM3,NONO,ITGB1BP2
glessner_09_ASD_replication_cases-AU081404
Unknown
Unknown
NA
NLGN3,GJB1,ZMYM3,NONO,ITGB1BP2
han_22_ASD/DD/ID_discovery_cases-case15D2340
Unknown
PJA1,LINC00269,HMGN1P35
iourov_12_ASD/ID/EP_discovery_cases-case32
Unknown
Unknown
Unknown
ZMYM3,NONO,TAF1,ITGB1BP2
iourov_12_ASD/ID/EP_discovery_cases-case45
Unknown
Unknown
Unknown
EDA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001087
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
CNOT7P1,MIR676,OTUD6A,MTCYBP31,MTND4P31,IGBP1-AS2,IGBP1-AS1,RN7SL581P,RNA5SP507,P2RY4,RAB41,RNY4P23,AWAT2,IGBP1,DGAT2L6,AWAT1,ARR3,PDZD11,EDA,KIF4A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005037
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CNOT7P1,MIR676,OTUD6A,MTCYBP31,MTND4P31,IGBP1-AS2,IGBP1-AS1,RN7SL581P,RNA5SP507,P2RY4,RAB41,RNY4P23,GDPD2,RNU4-81P,DLG3-AS1,AWAT2,IGBP1,DGAT2L6,AWAT1,ARR3,PDZD11,DLG3,EDA,KIF4A
krumm_15_ASD_discovery_cases-case12008.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
GCNA,OGT
krumm_15_ASD_discovery_cases-case13912.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
AWAT1
krumm_15_ASD_discovery_cases-case14014.p1
aCGH
De novo
Simplex
Likely segregated
RNU2-68P,HDAC8
levy_11_ASD_discovery_cases-11689.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
NLGN3
pinto_14_ASD_discovery_cases2-case14314_4310
qPCR
Maternal (X-linked in a male)
Simplex
Unknown (3 healthy sibs 2 boys and 1 girl not tested)
CXorf49B,RNU6-1078P,RPS26P11,RTL5,RN7SL388P,RPS4X,CITED1,NHSL2,PIN4,ERCC6L,HDAC8
prasad_12_ASD_discovery_cases-case153121L
Unknown
Unknown
Unknown
EDA
prasad_12_ASD_discovery_cases-case154269L
Unknown
Unknown
Unknown
AWAT1
prasad_12_ASD_discovery_cases-case168169
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1152-0
Not tested by qPCR
Unknown
Unknown
Unknown
FAM236D,FAM236C,FAM236A,DMRTC1B,DMRTC1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP96-053_LP
Not tested by qPCR
Unknown
Unknown
Unknown
RNU1-112P,FAM236B,FAM236D,FAM236C,FAM236A,DMRTC1B,FAM226B,DMRTC1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP98-080
Not tested by qPCR
Unknown
Unknown
Unknown
FAM236B,FAM236D,FAM236C,FAM236A,DMRTC1B,FAM226B,DMRTC1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-044
Not tested by qPCR
Unknown
Unknown
Unknown
RNU1-112P,FAM236B,FAM236D,FAM236C,FAM236A,DMRTC1B,FAM226B,DMRTC1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-226a2
Not tested by qPCR
Unknown
Unknown
Unknown
RNU1-112P,FAM236B,FAM236D,FAM236C,FAM236A,DMRTC1B,FAM226B,DMRTC1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
Not tested by qPCR
Unknown
Unknown
Unknown
RNU1-112P,FAM236B,FAM236D,DMRTC1B,FAM226B,DMRTC1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-342
Not tested by qPCR
Unknown
Unknown
Unknown
RNU1-112P,FAM236B,FAM236D,FAM236C,FAM236A,DMRTC1B,FAM226B,DMRTC1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-144
Not tested by qPCR
Unknown
Unknown
Unknown
RNU1-112P,FAM236B,FAM236D,FAM236C,FAM236A,DMRTC1B,FAM226B,DMRTC1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-148
Not tested by qPCR
Unknown
Unknown
Unknown
RNU1-112P,FAM236B,FAM236D,FAM236C,FAM236A,DMRTC1B,FAM226B,DMRTC1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-185
Not tested by qPCR
Unknown
Unknown
Unknown
RNU1-112P,FAM236B,FAM236D,FAM236C,FAM236A,DMRTC1B,FAM226B,DMRTC1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-419
Not tested by qPCR
Unknown
Unknown
Unknown
RNU1-112P,FAM236B,FAM236D,FAM236C,FAM236A,DMRTC1B,FAM226B,DMRTC1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-115
Not tested by qPCR
Unknown
Unknown
Unknown
RNU1-112P,FAM236B,FAM236D,FAM236C,FAM236A,DMRTC1B,FAM226B,DMRTC1
sanders_11_ASD_discovery_cases-11432.p1
Unknown
Simplex (quad-proband matched)
Segregated
FAM236B,FAM236D,FAM236C,DMRTC1B,FAM226B,DMRTC1
sanders_11_ASD_discovery_cases-11472.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11537.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11689.p1
Unknown
Simplex (trio)
NA
NLGN3
sanders_11_ASD_discovery_cases-12061.p1
Maternal
Simplex (quad-proband matched)
Not segregated
willemsen_12_DD/ID_discovery_cases-case9
Grandmaternal
Cosegregation with disease in male family members
GDPD2,RNU4-81P,DLG3-AS1,SNORD3E,RPS23P8,DLG3,SLC7A3,KIF4A,TEX11
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB345605_1007844543
Unknown
RTL5,RN7SL388P,RPS4X,CITED1,NHSL2,PIN4,ERCC6L,HDAC8
engchuan_15_ASD_discovery_controls-controlHABC_902847_902847
Unknown
OTUD6A,MTCYBP31,MTND4P31,IGBP1-AS2,IGBP1-AS1,RN7SL581P,AWAT2,IGBP1,DGAT2L6,AWAT1,EDA
krumm_15_ASD_discovery_controls-control13912.s1
Omni2.5-4v1
Maternal
AWAT1
No Animal Model Data Available