HELP     Sign In

Xq26.2CNV Type: Deletion-Duplication


Largest CNV size: 880000 bp

Statistics Box:
Number of Reports: 12



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
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Duplication
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bremer_11_ASD_discovery_cases
 223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
 223
 25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
 
 71.3% Male
 880000
 0
 1
 1
 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
 341965
 1
 0
 1
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 361274
 0
 2
 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
 884287
 0
 6
 6
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 319252
 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
 
 
 289500
 0
 1
 1
 napoli_17_ASD_discovery_cases
 Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
 133
 Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
 Mean, 6.7 3.0 years
 84.96% Male
 304000
 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
 321390
 0
 3
 3
 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
 416347
 9
 1
 10
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 276000
 0
 1
 1
 schaaf_12_ASD/DD/ID_discovery_cases
 22 patients (out of 8051) referred to BCM MCL for aCGH analysis from August 2009-September 2010 with identified intragenic NRXN1 deletions, plus two additional patients recruited who had CMA testing at different laboratories (University of Iowa and Quest Diagnostics)
 24
 ASD (13/24), autistic features (4/24), ADHD (8/22), developmentla delay/intellectual disability (18/21), seizures (11/24), hypotonia (10/24)
 Range, 16 days-30 years (age at diagnosis)
 66.7% Male
 333354
 0
 1
 1
 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
 360000
 0
 2
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 152312
 3
 2
 5
 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
 271205
 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)
 321390
 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.
 
 113347
 4
 1
 5

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 bremer_11_ASD_discovery_cases
  Swedish
 aCGH
  BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
 
 
 MLPA, FISH
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 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)
 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
 napoli_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome 4x180K
 ADM-2
 Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
 RT-PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 
 
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 schaaf_12_ASD/DD/ID_discovery_cases
  Caucasian (n=16), Hispanic (n=5), Caucasian/Hispanic (n=1), Asian (n=1), Ashkenazi Jewish (n=1)
 aCGH
  BCM V8 OLIGO microarray, Nimblegen Nimblechip HG18 oligo array, ClariSure CGH BACs array
 
 
 None
 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
  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
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  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
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  bremer_11_ASD_discovery_cases-case25
 11
 M
 ASD
 Syndromic ASD, sporadic case
 MR (IQ<70)
 132165629
 133052081
  886453
 GRCh38
 Duplication
 Yes
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262468
 N/A
 F
 Developmental delay
 Global developmental delay; Joint hypermobility; Sparse scalp hair; Sparse lateral eyebrow; Highly arched eyebrow; Strabismus; Edema; Spontaneous neonatal pneumothorax; Umbilical hernia; Hypopigmentation of the skin; 3-4 toe syndactyly; Sandal gap; Ventriculomegaly; Generalized neonatal hypotonia; Nocturnal hypoventilation; Hip dysplasia; Unilateral ptosis; Upslanted palpebral fissure; Inverted nipples
 
 134363841
 134705806
  341966
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1578304
 
 
 Autism
 
 
 130643660
 131004933
  361274
 Unknown
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1867303
 
 
 Autism
 
 
 130589710
 130795972
  206263
 Unknown
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000815
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 131591045
 132007449
  416405
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000929
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 132776918
 133371859
  594942
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000957
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 131591104
 132007390
  416287
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001795
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 133474724
 133869312
  394589
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004912
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 131679218
 132563491
  884274
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004991
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 131368904
 131826589
  457686
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12517.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 133217041
 133536293
  319253
 GRCh38
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-MM0087-003
 NA
 M
 ASD
 NA
 NA
 131546491
 131835936
  289446
 GRCh38
 Duplication
 Yes
  napoli_17_ASD_discovery_cases-case31
 N/A
 M
 ASD
 Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
 
 131523105
 131826589
  303485
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case128122
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 131755367
 131769427
  14061
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case59962-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 130480766
 130802155
  321390
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case93914
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 130480766
 130802155
  321390
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11501.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 71
 133526341
 133528476
  2136
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11718.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
 134387452
 134388694
  1243
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11780.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 112; verbal IQ, 120
 133526341
 133528476
  2136
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12227.p1
 12.4
 M
 Autism
 NA
 Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
 133526341
 133528476
  2136
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12451.p1
 9.6
 M
 ASD
 NA
 Full-scale IQ, 75; non-verbal IQ, 77; verbal IQ, 77
 133526341
 133528476
  2136
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12517.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 41; verbal IQ, 20
 133137278
 133553625
  416348
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12667.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 49; verbal IQ, 19
 133526341
 133528476
  2136
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12908.p1
 5
 F
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 81; verbal IQ, 70
 131738059
 131811446
  73388
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13041.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
 133526341
 133528476
  2136
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13060.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
 133526341
 133528476
  2136
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case102
 3 yrs.
 M
 Developmental delay/intellectual disability and ASD
 Developmental delay/intellectual disability, ASD, Dysmorphism
 
 131540330
 131816215
  275886
 GRCh38
 Duplication
 No
  schaaf_12_ASD/DD/ID_discovery_cases-caseI6
 16 years
 M
 Schizophrenia
 Autism: Initially diagnosed with ASD, then diagnosis emerged to schizophrenia. ADHD: No. Developmental milestones: sitting, Unkn; walking, 15 mo; first word, 21 mo. Seizures: GTCS. EEG: Nl. Brain MRI: None. Hypotonia: none. Motor coordination defects: none. Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), 99; length (%ile), 80; FOC (%ile), 50. Ethnicity: Caucasian. Vision: Esotropia, wears corrective glasses for unknown reason. Hearing: Normal.
 No formal testing, but requires special education.
 131531351
 131864651
  333301
 GRCh38
 Duplication
 No
  willemsen_12_DD/ID_discovery_cases-case55
 
 M
 Premature death
 Death at 3 months of age, hypertrophic cardiomyopathy
 
 131478345
 131838291
  359947
 GRCh38
 Duplication
 No
  willemsen_12_DD/ID_discovery_cases-case56
 
 M
 Multiple congenital anomalies
 MCA (hand anomalies)
 
 131478345
 131838291
  359947
 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-controlB476424_1007853954
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131681964
  131834263
  152300
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB494647_1007853944
  N/A
  N/A
  Control
  No previous psychiatric history
 
  133792565
  133868193
  75629
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB769138_1007846093
  N/A
  N/A
  Control
  No previous psychiatric history
 
  133018593
  133060159
  41567
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB955457_1007875817
  N/A
  N/A
  Control
  No previous psychiatric history
 
  131684265
  131834263
  149999
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901238_901238
  N/A
  N/A
  Control
  No previous psychiatric history
 
  132872639
  132931606
  58968
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11452.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  131273795
  131545000
  271206
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11382.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  131727462
  131840809
  113348
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12227.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  133526341
  133528476
  2136
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12240.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  133207300
  133252819
  45520
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12667.s1
  19.3
  M
  Control (matched sibling)
  NA
  NA
  133526341
  133528476
  2136
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13041.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  133526341
  133528476
  2136
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 bremer_11_ASD_discovery_cases-case25
 MLPA, FISH
 
 Unknown
 NA
 NA
 RNU6-98P,HS6ST2-AS1,RAP2C,RAP2C-AS1,MBNL3,HS6ST2,USP26
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262468
 
 
 De novo
 Simplex
 Segregated
 MIR450B,MIR450A1,MIR450A2,MIR542,MIR503,MIR424,LINC00629,RPL21P133,RPS7P12,PHF6,MIR503HG,HPRT1,PLAC1
 
 gai_11_ASD_discovery_cases-AU1578304
 
 
 Inherited
 
 
 LOC286467, MST4
 
 gai_11_ASD_discovery_cases-AU1867303
 
 
 Inherited
 
 
 LOC286467
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000815
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 OR2AF1P,HDGFP1,MCRIP2P1,PNKDP1,RNA5SP514,OR7L1P,FIRRE
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000929
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU1-115P,TFDP3,HS6ST2,USP26,GPC4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000957
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 OR2AF1P,HDGFP1,MCRIP2P1,PNKDP1,RNA5SP514,OR7L1P,FIRRE
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001795
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-203P,RPSAP63,GPC3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004912
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MCRIP2P1,PNKDP1,RNA5SP514,STK26,RAP2C,FIRRE,RAP2C-AS1,MBNL3,FRMD7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004991
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 OR5BH1P,OR1AA1P,OR13H1,OR2AF1P,HDGFP1,MCRIP2P1,PNKDP1,OR13K1P,IGSF1,OR7L1P,FIRRE
 
 krumm_15_ASD_discovery_cases-case12517.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 RNU1-115P,RNU6-203P,TFDP3,GPC4,GPC3
 
 marshall_08_ASD_discovery_cases-MM0087-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 OR2AF1P,HDGFP1,MCRIP2P1,PNKDP1,OR13K1P,IGSF1,OR7L1P,FIRRE
 
 napoli_17_ASD_discovery_cases-case31
 RT-PCR
 
 Unknown
 
 
 OR13H1,OR2AF1P,HDGFP1,MCRIP2P1,PNKDP1,OR13K1P,IGSF1,OR7L1P,FIRRE
 
 prasad_12_ASD_discovery_cases-case128122
 
 
 Unknown
 Unknown
 Unknown
 HS6ST2
 
 prasad_12_ASD_discovery_cases-case59962-L
 
 
 Unknown
 Unknown
 Unknown
 OR13H1,LOC286467
 
 prasad_12_ASD_discovery_cases-case93914
 
 
 Unknown
 Unknown
 Unknown
 OR13H1,LOC286467
 
 sanders_11_ASD_discovery_cases-11501.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11718.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PHF6
 
 sanders_11_ASD_discovery_cases-11780.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12227.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12451.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12517.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 RNU1-115P,RNU6-203P,TFDP3,GPC4,GPC3
 
 sanders_11_ASD_discovery_cases-12667.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12908.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 MCRIP2P1,PNKDP1,FIRRE
 
 sanders_11_ASD_discovery_cases-13041.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13060.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sansovic_17_DD/ID/ASD_discovery_cases-case102
 
 
 Maternal
 
 
 OR13H1,OR2AF1P,HDGFP1,MCRIP2P1,PNKDP1,OR13K1P,IGSF1,OR7L1P,FIRRE
 
 schaaf_12_ASD/DD/ID_discovery_cases-caseI6
 
 
 Unknown
 Unknown
 Unknown
 OR13H1,OR2AF1P,HDGFP1,MCRIP2P1,PNKDP1,OR13K1P,IGSF1,OR7L1P,FIRRE
 
 willemsen_12_DD/ID_discovery_cases-case55
 
 
 Maternal
 
 
 OR13H1,OR2AF1P,HDGFP1,MCRIP2P1,PNKDP1,OR13K1P,IGSF1,OR7L1P,FIRRE
 
 willemsen_12_DD/ID_discovery_cases-case56
 
 
 Unknown (not tested)
 
 
 OR13H1,OR2AF1P,HDGFP1,MCRIP2P1,PNKDP1,OR13K1P,IGSF1,OR7L1P,FIRRE
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB476424_1007853954
 
 
  Unknown
 
 
  MCRIP2P1,PNKDP1,FIRRE
 
engchuan_15_ASD_discovery_controls-controlB494647_1007853944
 
 
  Unknown
 
 
  GPC3
 
engchuan_15_ASD_discovery_controls-controlB769138_1007846093
 
 
  Unknown
 
 
  USP26
 
engchuan_15_ASD_discovery_controls-controlB955457_1007875817
 
 
  Unknown
 
 
  MCRIP2P1,PNKDP1,FIRRE
 
engchuan_15_ASD_discovery_controls-controlHABC_901238_901238
 
 
  Unknown
 
 
  HS6ST2
 
krumm_15_ASD_discovery_controls-control11452.s1
  Illumina 1M
 
  Maternal
 
 
  OR11N1P,OR5AW1P,OR5BH1P,OR1AA1P,OR13H1,IGSF1
 
sanders_11_ASD_discovery_controls-11382.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MCRIP2P1,PNKDP1,FIRRE
 
sanders_11_ASD_discovery_controls-12227.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12240.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RNU1-115P,TFDP3
 
sanders_11_ASD_discovery_controls-12667.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13041.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.