HELP     Sign In

Xq13.1CNV Type: Deletion-Duplication


Largest CNV size: 191997 bp

Statistics Box:
Number of Reports: 14



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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
 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
 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
 glessner_09_ASD_discovery_controls
 Controls
 1409
 Controls
 
 
 171100
 0
 0
 0
 glessner_09_ASD_replication_controls
 Controls
 1110
 Controls
 
 
 171100
 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
 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
 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
 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
  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
  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
 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
 
 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
HELP
Copyright © 2017 MindSpec, Inc.