5q35.2CNV Type: Deletion-Duplication


Largest CNV size: 286384 bp

Statistics Box:
Number of Reports: 9



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
De novo rates and selection of large copy number variation.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Global increases in both common and rare copy number load associated with autism.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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)
 
 
 1866691
 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
 286384
 15
 5
 20
 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
 2093574
 1
 0
 1
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 104848
 2
 0
 2
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 7983
 1
 0
 1
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 33407
 1
 0
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism 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 (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 100564
 0
 1
 1
 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
 3491
 1
 1
 2
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 24192
 0
 3
 3

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 114136
 8
 4
 12
 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
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 104848
 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)
 7983
 0
 0
 0
 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
 154894
 1
 1
 2
 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
 4190
 1
 2
 3
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 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 (n=334) or Illumina 1M v3 (n=840)
 PennCNV, QuantiSNP, & GNOSIS
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K or 180K, Affymetrix 6.0
 
 Agilent DNA Analytics (aCGH); Birdsuite, iPattern, and Genotyping Console (array SNP)
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 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
 
 None
 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
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, & GNOSIS
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH (PDx controls)
  Agilent 1M (PDx controls)
  PDx controls: ADM-2, DNAcopy (R Bioconductor)
  PDx controls: DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  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
 
 
  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
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  itsara_10_ASD_discovery_cases-HI2459
 NA
 NA
 Broad spectrum autism (Spectrum)
 NA
 NA
 175492445
 177359136
  1866691
 UCSC Build36
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11033.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
 175488574
 175595472
  106898
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11297.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
 172360256
 172370247
  9991
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11453.p1
 8
 M
 ASD
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
 172360256
 172370247
  9991
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11543.p1
 16
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
 173522340
 173526695
  4355
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11556.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
 175492445
 175552119
  59674
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11680.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
 175176640
 175463024
  286384
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11765.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
 176142020
 176144896
  2876
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11825.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
 172360256
 172370247
  9991
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11835.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
 172337639
 172340328
  2689
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11909.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
 173784130
 173787543
  3413
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12117.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
 175492445
 175595472
  103027
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12137.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 172537733
 172545634
  7901
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12478.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
 175503757
 175561995
  58238
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12521.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
 172338503
 172350949
  12446
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 172335292
 172340328
  5036
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12558.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
 175492445
 175585859
  93414
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12587.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 98; verbal IQ, 98
 175503757
 175530617
  26860
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12798.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
 173522340
 173526695
  4355
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12939.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
 173522340
 173526695
  4355
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13097.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
 175503757
 175570975
  67218
 hg18
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004044
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 172320700
 174414274
  2093574
 NCBI36
 Deletion
 Yes
  girirajan_11_ASD_discovery_cases-Si118
 11
 M
 Autism
 ADOS score: 8. Vineland composite score: 63.
 Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 56; Non-verbal IQ, 76.
 175479593
 175584441
  104848
 UCSC Build36/hg18
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si191
 12
 M
 Autism
 ADOS score: 7. Vineland composite score: 76.
 No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 108; Non-verbal IQ, 102.
 175504664
 175584441
  79777
 UCSC Build36/hg18
 Deletion
 No
  prasad_12_ASD_discovery_cases-case59794L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 172381794
 172389776
  7983
 
 Deletion
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 24 yrs.
 M
 Schizophrenia
 Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
 Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
 174247205
 174280611
  33407
 Build36/hg18
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-21707108167
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 175479593
 175580157
  100564
 Build36/hg18
 Duplication
 No
  krumm_13_ASD_discovery_cases-case13504.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13504. SRS score of 77.
 Full-scale IQ (FSIQ) score of 64.
 176314451
 176317942
  3491
 hg19
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13922.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13922. SRS score of 90.
 Full-scale IQ (FSIQ) score of 100.
 175992353
 175995818
  3465
 hg19
 Deletion
 No (not tested)
  poultney_13_ASD_discovery_cases-case99HI0671A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU033403; NDAR ID NDAR_INVFP134WLL)
 
 175815234
 175816500
  1267
 hg19
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0802A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055504; NDAR ID NDAR_INVXM069XZB)
 
 175813839
 175819948
  6110
 hg19
 Duplication
 No
  poultney_13_ASD_discovery_cases-caseHI4457
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1070302; NDAR ID NDAR_INVRN376JE5)
 
 175716657
 175740848
  24192
 hg19
 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
  sanders_11_ASD_discovery_controls-11033.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  175462609
  175561995
  99386
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11524.s1
  17
  M
  Control (matched sibling)
  NA
  NA
  174495192
  174496398
  1206
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11556.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  175488574
  175602710
  114136
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11765.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  176142020
  176144896
  2876
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11835.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  172336134
  172340328
  4194
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  175492445
  175585859
  93414
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12434.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  173522340
  173526695
  4355
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12478.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  175503757
  175561995
  58238
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12555.s1
  18
  F
  Control (matched sibling)
  NA
  NA
  172336134
  172340328
  4194
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12578.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  172360256
  172370247
  9991
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13082.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  176247040
  176247905
  865
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-13097.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  175503757
  175570975
  67218
  hg18
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-2105102564
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  176478284
  176557335
  79051
  Build36/hg18
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-9409110993
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  175529404
  175684298
  154894
  Build36/hg18
  Duplication
  No
  krumm_13_ASD_discovery_controls-control12906.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12906. SRS score of 40.
 
  176314002
  176318192
  4190
  hg19
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13504.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13504. SRS score of 43.
 
  176314451
  176317942
  3491
  hg19
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13922.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 13922. SRS score of 41.
 
  175992353
  175995818
  3465
  hg19
  Deletion
  No (not tested)

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 itsara_10_ASD_discovery_cases-HI2459
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 LOC643201,C5orf25,KIAA1191,ARL10,NOP16,HIGD2A,CLTB,FAF2,RNF44,CDHR2,GPRIN1,SNCB,MIR4281,EIF4E1B,TSPAN17,UNC5A,HK3,UIMC1,ZNF346,FGFR4,NSD1,RAB24,PRELID1,MXD3,LMAN2,RGS14,SLC34A1,PFN3,F12,GRK6,LOC340037,PRR7,DBN1,PDLIM7,DOK3,DDX41,FAM193B,TMED9,B4GALT7,LOC202181,FAM153A,LOC728554,PROP1
 
 sanders_11_ASD_discovery_cases-11033.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11297.p1
 
 
 Unknown
 Simplex (trio)
 NA
 ATP6V0E1 intronic
 
 sanders_11_ASD_discovery_cases-11453.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 ATP6V0E1 intronic
 
 sanders_11_ASD_discovery_cases-11543.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11556.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11680.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CPLX2, FAM153B, THOC3
 
 sanders_11_ASD_discovery_cases-11765.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11825.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ATP6V0E1 intronic
 
 sanders_11_ASD_discovery_cases-11835.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11909.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12117.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12137.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12478.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12521.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ATP6V0E1
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12558.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12587.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12798.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12939.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13097.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004044
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RPL26L1,ATP6V0E1,CREBRF,BNIP1,NKX2-5,STC2,BOD1,CPEB4,C5orf47,HMP19,MSX2
 
 girirajan_11_ASD_discovery_cases-Si118
 
 
 Paternal
 Simplex
 
 0 genes
 
 girirajan_11_ASD_discovery_cases-Si191
 
 
 Maternal
 Simplex
 
 0 genes
 
 prasad_12_ASD_discovery_cases-case59794L
 
 
 Unknown
 Unknown
 Unknown
 ATP6V0E1
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 
 
 Unknown
 Simplex
 Unknown
 0 genes
 
 girirajan_13b_ASD_discovery_cases-21707108167
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 krumm_13_ASD_discovery_cases-case13504.p1
 
 
 Maternal
 Simplex
 Not segregated
 HK3
 
 krumm_13_ASD_discovery_cases-case13922.p1
 
 
 Maternal
 Simplex
 Not segregated
 CDHR2
 
 poultney_13_ASD_discovery_cases-case99HI0671A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 NOP16,HIGD2A
 
 poultney_13_ASD_discovery_cases-case99HI0802A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 NOP16,HIGD2A,CLTB
 
 poultney_13_ASD_discovery_cases-caseHI4457
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 SIMC1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FAM153B
 
sanders_11_ASD_discovery_controls-11524.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11556.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C5orf25
 
sanders_11_ASD_discovery_controls-11765.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11835.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12434.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12478.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12555.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12578.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ATP6V0E1 intronic
 
sanders_11_ASD_discovery_controls-13082.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HK3
 
sanders_11_ASD_discovery_controls-13097.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
girirajan_13b_ASD_discovery_controls-2105102564
 
 
  Unknown
 
 
  NSD1
 
girirajan_13b_ASD_discovery_controls-9409110993
 
 
  Unknown
 
 
  SIMC1
 
krumm_13_ASD_discovery_controls-control12906.s1
 
 
  Maternal
  Simplex
 
  HK3
 
krumm_13_ASD_discovery_controls-control13504.s1
 
 
  Maternal
  Simplex
 
  HK3
 
krumm_13_ASD_discovery_controls-control13922.s1
 
 
  Maternal
  Simplex
 
  CDHR2
 

No Animal Model Data Available