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15q24.1CNV Type: Deletion-Duplication


Largest CNV size: 9500 bp

Statistics Box:
Number of Reports: 13



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
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
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 2920
 1
 0
 1
 chaves_19_ASD/DD/ID_discovery_cases
  NA NA
 Patients from the south of Brazil with neurodevelopmental disorders
 420
 Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
 Range, 0-49 years (mean 9.5 9.73 years)
 61.90% Male
 742953
 0
 1
 1
 cukier_11_ASD_discovery_cases
 2 autistic individuals from multiplex family 17122 (originally ascertained as part of the Collaborative Autism Project, which was described in Ma et al., 2009 ASD GWAS study)
 2
 1 diagnosed with autism, 1 diagnosed with ASD (DSM-IV and ADI-R criteria)
 
 Male
 5800
 0
 2
 2
 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
 125767
 2
 1
 3
 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.
 
 
 92031
 1
 0
 1
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 1410000
 8
 4
 12
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 5039
 2
 0
 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
 1379928
 1
 0
 1
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 9500
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 8445
 1
 0
 1
 salyakina_11_ASD_discovery_cases
 ASD patients from extended ASD families (defined as families with at least two affected cousins)
 97
 ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS
 Range, 3-21 yrs.
 
 11028
 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
 3387
 1
 1
 2
 woodbury-smith_14_ASD_discovery_cases
 Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
 19
 Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
 N/A
 N/A
 2218
 1
 0
 1

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
 145707
 0
 1
 1
 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.
 
 
 85267
 2
 0
 2
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 1410000
 0
 0
 0
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 N/A
 N/A
 N/A
 N/A
 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
 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)
 8445
 0
 0
 0
 salyakina_11_ASD_discovery_controls
 Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)
 838
 Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions
 
 
 11028
 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.
 
 3301
 2
 0
 2
 woodbury-smith_14_ASD_discovery_controls
 Platform-matched controls from the KORA and COGEND datasets
 2988
 Control
 N/A
 N/A
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 cukier_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Human 1M Beadchip
 PennCNV
 
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 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
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 salyakina_11_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
 PennCNV
 BeadStudio v3
 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
 
 
 woodbury-smith_14_ASD_discovery_cases
  US and Canada
 Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
 PennCNV, QuantiSNP, iPattern
 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
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
  None
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  girirajan_13a_ASD_discovery_controls1
  NA
  aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
  ADM-2
  Agilent Genomic Workbench
  None
  girirajan_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  salyakina_11_ASD_discovery_controls
  727 Caucasian, 111 African-American
 
 
 
 
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  woodbury-smith_14_ASD_discovery_controls
  Predominantly European
  Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
  PennCNV, QuantiSNP, iPattern
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_replication_cases-caseAU4462302
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 73056240
 73059159
  2920
 GRCh38
 Deletion
 No
  chaves_19_ASD/DD/ID_discovery_cases-case223
  NA NA
 10 yrs.
 M
 Developmental delay and intellectual disability
 Short stature, intrauterine growth retardation, developmental delay, mild intellectual disability, facial dysmorphism (narrow face, dolichocephaly, high-arched palate, microtia), nipple hypertelorism, constipation
 Mild intellectual disability
 72546464
 73289416
  742953
 GRCh38
 Duplication
 No
  cukier_11_ASD_discovery_cases-case0100
 NA
 M
 Autism
 Walking at 18 months, first word at 40 months, phrase speech at 57 months. EEG findings of uncertain significance, but no clinical seizures. History of allergies, senosry problems, and hyperactivity. No dysmorphic features, head circumference in high normal range. First cousin of discovery case 0101.
 Full scale IQ=46, Vineland adaptive behavior composite=55
 74456674
 74468482
  11809
 GRCh38
 Duplication
 Yes
  cukier_11_ASD_discovery_cases-case0101
 NA
 M
 ASD
 Initially diagnosed with ADHD, depressive disorder, and a reading disability. Significant social problems & no inclination to interact with peers. Walking at 11 months, first words at 12 months, phrase speech at 24 months. Articulation and oral motor problems, awkward gait, overly acute hearing. First cousin of discovery case 0100.
 Full scale IQ=99, Vineland adaptive behavior composite=65
 74456674
 74468482
  11809
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case3016_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 74120207
 74202605
  82399
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4524_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 73065610
 73191377
  125768
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6249_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 73501146
 73531700
  30555
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si262
 9
 M
 Autism
 ADOS score: NA. Vineland composite score: NA.
 Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
 74750344
 74842375
  92032
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-12132.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 72709127
 72714166
  5040
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-AU084503
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 72709127
 72714166
  5040
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004641
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 72671629
 74051557
  1379929
 GRCh38
 Deletion
 Yes
  morrow_08_ASD_discovery_cases-case3901
 NA
 
 ASD
 NA
 NA
 72361000
 72371000
  9500
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case89675
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 71804599
 71813043
  8445
 Unknown
 Deletion
 No
  salyakina_11_ASD_discovery_cases-17122_001
 
 M
 Autism
 Abnormal EEGs. ADHD symptoms. Language delays, fine motor delay, low muscle tone/muscle weakness. Macrocephaly.
 Moderate intellectual disability, learning disabilities.
 74458793
 74469821
  11029
 GRCh38
 Duplication
 Yes
  salyakina_11_ASD_discovery_cases-17122_100
 
 M
 Autism
 ADHD symptoms. Sensory deficits. Language delays, regression at 11 months.
 
 74458793
 74469821
  11029
 GRCh38
 Duplication
 Yes
  salyakina_11_ASD_discovery_cases-17122_101
 
 M
 Autism
 ADHD symptoms. Mood disorder not otherwise specified (NOS). Reading disorder. Mild oral motor and articulation delays. Awkward gait.
 Learning disabilities.
 74458793
 74469821
  11029
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11134.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
 72671364
 72674751
  3388
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12032.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
 74428830
 74429720
  891
 GRCh38
 Deletion
 No
  woodbury-smith_14_ASD_discovery_cases-case14
 N/A
 M
 ASD
 Family history: broad autism phenotype (BAP)-defined father.
 
 74014292
 74016509
  2218
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlHABC_901138_901138
  N/A
  N/A
  Control
  No previous psychiatric history
 
  73797452
  73943159
  145708
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_107
  NA
  NA
  Control
  NA
  NA
  74791837
  74842375
  50539
  GRCh38
  Deletion
  No
  girirajan_11_ASD_discovery_controls-NIMH_231
  NA
  NA
  Control
  NA
  NA
  74761557
  74846824
  85268
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12091.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  73727495
  73730796
  3302
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12964.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  74746114
  74749010
  2897
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-caseAU4462302
 No validation step reported
 
 Paternal
 
 
 NEO1
 
 chaves_19_ASD/DD/ID_discovery_cases-case223
 
 
 Unknown
 
 
 MIR630,RN7SL853P,NPM1P42,FKBP1AP2,NPM1P43,GOLGA6B,HIGD2B,BBS4,ADPGK,ADPGK-AS1,ARIH1,LINC02259,NEO1
 
 cukier_11_ASD_discovery_cases-case0100
 qPCR
 
 Maternal
 Multiplex
 Unknown
 UBL7-AS1,UBL7
 
 cukier_11_ASD_discovery_cases-case0101
 qPCR
 
 Maternal
 Simplex
 NA
 UBL7-AS1,UBL7
 
 engchuan_15_ASD_discovery_cases-case3016_3
 
 
 Unknown
 
 
 ISLR,ISLR2,STRA6
 
 engchuan_15_ASD_discovery_cases-case4524_1
 
 
 Unknown
 
 
 FKBP1AP2,NPM1P43,NEO1
 
 engchuan_15_ASD_discovery_cases-case6249_4
 
 
 Unknown
 
 
 REC114
 
 girirajan_11_ASD_discovery_cases-Si262
 
 
 Unknown
 Simplex
 
 CYP1A2,MIR4513,CPLX3,MIR6882,CSK,LMAN1L,ULK3
 
 girirajan_13a_ASD_discovery_cases-12132.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 BBS4
 
 girirajan_13a_ASD_discovery_cases-AU084503
 aCGH (NimbleGen 135K array)
 
 Paternal
 Multiplex
 Unknown
 BBS4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004641
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,NEO1,REC114,LOXL1-AS1
 
 morrow_08_ASD_discovery_cases-case3901
 
 
 Paternal
 NA
 NA
 CCDC33
 
 prasad_12_ASD_discovery_cases-case89675
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 salyakina_11_ASD_discovery_cases-17122_001
 qPCR
 
 Maternal
 Multiplex
 Segregated
 UBL7-AS1,UBL7
 
 salyakina_11_ASD_discovery_cases-17122_100
 qPCR
 
 Maternal
 Multiplex
 Segregated
 UBL7-AS1,UBL7
 
 salyakina_11_ASD_discovery_cases-17122_101
 qPCR
 
 Maternal
 Simplex
 Segregated
 UBL7-AS1,UBL7
 
 sanders_11_ASD_discovery_cases-11134.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12032.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 SEMA7A
 
 woodbury-smith_14_ASD_discovery_cases-case14
 
 
 Paternal
 Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
 Unknown
 PML
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_901138_901138
 
 
  Unknown
 
 
  TBC1D21,LOXL1,LOXL1-AS1
 
girirajan_11_ASD_discovery_controls-NIMH_107
 
 
  Unknown
 
 
  CPLX3,MIR6882,CSK,LMAN1L,ULK3
 
girirajan_11_ASD_discovery_controls-NIMH_231
 
 
  Unknown
 
 
  MIR4513,CPLX3,MIR6882,CSK,LMAN1L,SCAMP2,ULK3
 
sanders_11_ASD_discovery_controls-12091.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12964.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP1A2
 

No Animal Model Data Available
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