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15q13.1-q13.2CNV Type: Deletion-Duplication


Largest CNV size: 1270000 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

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication
NA
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 1370000
 1
 0
 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
 1269391
 0
 1
 1
 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
 1164165
 2
 0
 2
 girirajan_13a_DD_discovery_cases
 Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
 31518
 Developmental delay
 NA
 NA
 1164165
 2
 0
 2
 gregory_09_ASD_discovery_cases
 Probands from multiplex autism families
 119
 Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
 
 78.15% Male
 1153984
 1
 1
 2
 griswold_12_ASD_discovery_cases
 Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
 813
 Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
 Range, 3-21 yrs.
 NA
 1307967
 2
 0
 2
 guo_17_ASD_discovery_cases
 ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
 546
 Diagnosis of ASD based on DSM-IV-TR criteria
 Mean, 5.065 years
 N/A
 1391399
 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
 1611729
 2
 3
 5
 kushima_18_ASD_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 1108
 Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
 Median age, 19 years
 78.0% Male
 1717472
 0
 1
 1
 kushima_18_SCZ_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 2458
 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 44 years
 55.0% Male
 1649736
 1
 1
 2
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 1270000
 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
 1634348
 1
 1
 2
 tropeano_16_ASD_discovery_cases
 ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
 90
 Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
 Adult age (20 yrs.+)
 N/A
 1444313
 0
 1
 1
 wang_18_TS_discovery_cases
 Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
 789
 Probands diagnosed with Tourette syndrome
 N/A
 80.57% Male
 1882316
 0
 1
 1
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  NA NA
 Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
 2691
 1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
 
 76.37% Male
 1376298
 0
 1
 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
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls3
 Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
 8329
 Control
 NA
 NA
 0
 0
 0
 0
 gregory_09_ASD_discovery_controls
 Samples from 27 sex-mismatched hybridizations
 54
 Controls
 
 50% Male
 848989
 1
 0
 1
 griswold_12_ASD_discovery_controls
 Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
 592
 Control
 Range, preterm-21 yrs.
 NA
 1307967
 0
 0
 0
 guo_17_ASD_discovery_controls
 Control subjects screened for rare, large (>1 Mb) CNVs
 988
 No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
 Mean, 34.3 years
 N/A
 0
 0
 0
 0
 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
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% 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)
 1634348
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 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)
 girirajan_13a_DD_discovery_cases
  NA
 N/A
  N/A
 
 
 None
 gregory_09_ASD_discovery_cases
 
 aCGH
  BACs aCGH
 BioDiscovery RSA
 Bluefuse, Nexus
 aCGH
 griswold_12_ASD_discovery_cases
  Range of self-reported ethnicities (specifics NA)
 Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
 Penn CNV, QuantiSNP
 BeadStudio
 qPCR
 guo_17_ASD_discovery_cases
  Chinese Han
 Solid phase hybridization
  Illumina 370K or 660K BeadChip
 PennCNV
 
 qPCR
 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
 kushima_18_ASD_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 tropeano_16_ASD_discovery_cases
  United Kingdom
 aCGH
  Agilent 60K
 ADM-2
 Agilent Feature Extraction, Agilent Genomic Workbench
 MLPA, aCGH
 wang_18_TS_discovery_cases
  N/A
 WES
  Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
 
 CoNIFER
 qPCR
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

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_13a_ASD_discovery_controls3
  NA
  Array SNP
  N/A
 
 
  None
  gregory_09_ASD_discovery_controls
 
  aCGH
  BACs aCGH
  BioDiscovery RSA
  Bluefuse, Nexus
 
  griswold_12_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
  Penn CNV, QuantiSNP
  BeadStudio
 
  guo_17_ASD_discovery_controls
  Chinese Han
  Solid phase hybridization
  Illumina 610K BeadChip
  PennCNV
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  battaglia_13_DD/ID/ASD_discovery_cases-case62
 5 yrs. 4 mos.
 M
 Autism and borderline DD/ID
 Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes.
 Borderline DD/ID
 28920277
 30291233
  1370957
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case5225_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 28843628
 30077711
  1234084
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13585.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
 28917241
 30081385
  1164145
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-14074.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
 28917241
 30077820
  1160580
 GRCh38
 Deletion
 Yes
  girirajan_13a_DD_discovery_cases-DDcase156
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 28917241
 30081385
  1164145
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase157
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 28917241
 30081385
  1164145
 GRCh38
 Deletion
 No
  gregory_09_ASD_discovery_cases-19982499
 NA
 
 ASD
 NA
 NA
 29913712
 30382764
  469053
 GRCh38
 Deletion
 Yes
  gregory_09_ASD_discovery_cases-200427676
 NA
 
 ASD
 NA
 NA
 29608716
 30762701
  1153986
 GRCh38
 Duplication
 No
  griswold_12_ASD_discovery_cases-case17630
 NA
 NA
 ASD/autism
 NA
 NA
 28805052
 30077711
  1272660
 GRCh38
 Deletion
 Yes
  griswold_12_ASD_discovery_cases-case7486
 NA
 NA
 ASD/autism
 NA
 NA
 28805052
 30077711
  1272660
 GRCh38
 Deletion
 Yes
  guo_17_ASD_discovery_cases-caseM12315
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
 
 28754022
 30076950
  1322929
 GRCh38
 Deletion
 Yes
  guo_17_ASD_discovery_cases-caseM15147
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
 
 28717954
 30074044
  1356091
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002644
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 28819080
 30361669
  1542590
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003869
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 28785312
 30361733
  1576422
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004620
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 28694893
 30073921
  1379029
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005069
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 28960914
 30527462
  1566549
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005251
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 28694893
 30073921
  1379029
 GRCh38
 Deletion
 Yes
  kushima_18_ASD_discovery_cases-caseASD0805
 23 yrs.
 M
 ASD, ADHD
 Behavioral/psychiatric evaluation: ADHD, echolalia. Family history: negative.
 IQ > 70
 28465091
 30182562
  1717472
 GRCh38
 Duplication
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ0083
 25 yrs.
 F
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 18 years of age (core symptoms include delusions of persecution and observation, thought broadcast). EEG: abnormal EEG. Family history: positive.
 IQ > 70
 28821222
 30470957
  1649736
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ0980
 68 yrs.
 F
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 30 years of age (core symptoms include auditory hallucinations, delusions, disorganized and self-injury behavior). Family history: positive for schizophrenia (SCZ).
 IQ > 70
 28917240
 30379798
  1462559
 GRCh38
 Duplication
 N/A
  pinto_10_ASD_discovery_cases-case5225_3
 NA
 M
 Autism
 NA
 NA
 28843628
 30077711
  1234084
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case66179
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 26805634
 28439981
  1634348
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case76018L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 26805634
 28155155
  1349522
 Unknown
 Deletion
 No
  tropeano_16_ASD_discovery_cases-MAAS13
 60-69 yrs.
 M
 ASD
 Case diagnosed with autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 5.
 
 28917420
 30361733
  1444314
 GRCh38
 Duplication
 Yes
  wang_18_TS_discovery_cases-case25139.p1
 N/A
 N/A
 Tourette syndrome
 Tourette syndrome proband from phase 1 cohort; no additional clinical information available
 
 28527369
 30362627
  1835259
 GRCh38
 Duplication
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0027-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 28765110
 30094350
  1329241
 GRCh38
 Duplication
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  gregory_09_ASD_discovery_controls-control4
  NA
 
  Control
  NA
  NA
 
 
  848989
  NCBI36
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 battaglia_13_DD/ID/ASD_discovery_cases-case62
 FISH or qPCR
 Paternal
 Paternal
 Possible multi-generational
 Segregated
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,ULK4P3,LINC02249,APBA2,TJP1,FAM189A1
 
 engchuan_15_ASD_discovery_cases-case5225_3
 
 
 Unknown
 
 
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,PDCD6IPP2,APBA2,TJP1,FAM189A1
 
 girirajan_13a_ASD_discovery_cases-13585.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,APBA2,TJP1,FAM189A1
 
 girirajan_13a_ASD_discovery_cases-14074.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,APBA2,TJP1,FAM189A1
 
 girirajan_13a_DD_discovery_cases-DDcase156
 
 
 Unknown
 
 
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,APBA2,TJP1,FAM189A1
 
 girirajan_13a_DD_discovery_cases-DDcase157
 
 
 Unknown
 
 
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,APBA2,TJP1,FAM189A1
 
 gregory_09_ASD_discovery_cases-19982499
 aCGH dye swap
 
 Unknown
 NA
 NA
 NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,ULK4P3,LINC02249,CHRFAM7A,TJP1
 
 gregory_09_ASD_discovery_cases-200427676
 
 
 Unknown
 NA
 NA
 TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,TJP1,GOLGA8R
 
 griswold_12_ASD_discovery_cases-case17630
 qPCR
 
 Maternal
 Multiplex
 Segregated
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,PDCD6IPP2,APBA2,TJP1,FAM189A1
 
 griswold_12_ASD_discovery_cases-case7486
 qPCR
 
 Maternal
 Simplex
 Segregated
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,PDCD6IPP2,APBA2,TJP1,FAM189A1
 
 guo_17_ASD_discovery_cases-caseM12315
 qPCR
 
 Maternal
 
 
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,WHAMMP2,PDCD6IPP2,APBA2,TJP1,FAM189A1
 
 guo_17_ASD_discovery_cases-caseM15147
 qPCR
 
 De novo
 
 
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8M,WHAMMP2,PDCD6IPP2,APBA2,TJP1,FAM189A1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002644
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,ULK4P3,LINC02249,CHRFAM7A,PDCD6IPP2,APBA2,TJP1,FAM189A1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003869
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,ULK4P3,LINC02249,CHRFAM7A,PDCD6IPP2,APBA2,TJP1,FAM189A1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004620
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8M,WHAMMP2,PDCD6IPP2,APBA2,TJP1,FAM189A1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005069
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,ULK4P3,LINC02249,CHRFAM7A,APBA2,TJP1,FAM189A1,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005251
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8M,WHAMMP2,PDCD6IPP2,APBA2,TJP1,FAM189A1
 
 kushima_18_ASD_discovery_cases-caseASD0805
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Simplex
 Unknown
 MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,PDCD6IPP2,APBA2,TJP1,FAM189A1
 
 kushima_18_SCZ_discovery_cases-caseSCZ0083
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Not simplex
 
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,ULK4P3,LINC02249,CHRFAM7A,PDCD6IPP2,APBA2,TJP1,FAM189A1,GOLGA8R
 
 kushima_18_SCZ_discovery_cases-caseSCZ0980
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Not simplex
 Unknown
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,ULK4P3,LINC02249,CHRFAM7A,APBA2,TJP1,FAM189A1
 
 pinto_10_ASD_discovery_cases-case5225_3
 Agilent1M-Paternal
 
 paternal
 Unknown
 Unknown
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,PDCD6IPP2,APBA2,TJP1,FAM189A1
 
 prasad_12_ASD_discovery_cases-case66179
 
 
 Unknown
 Unknown
 Unknown
 LOC100289656,TJP1,APBA2,FAM7A1,LOC653075,DKFZP434L187,FAM7A2,FAM7A3,NDNL2,LOC646278,FAM189A1
 
 prasad_12_ASD_discovery_cases-case76018L
 
 
 Unknown
 Unknown
 Unknown
 LOC100289656,TJP1,APBA2,NDNL2,LOC646278,FAM189A1
 
 tropeano_16_ASD_discovery_cases-MAAS13
 MLPA or aCGH
 
 Unknown
 Unknown
 Unknown
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,ULK4P3,LINC02249,CHRFAM7A,APBA2,TJP1,FAM189A1
 
 wang_18_TS_discovery_cases-case25139.p1
 qPCR
 
 De novo
 
 
 HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,PDCD6IPP2,APBA2,TJP1,FAM189A1
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0027-003
 RT-qPCR or WGS
 
 Maternal
 
 
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,PDCD6IPP2,APBA2,TJP1,FAM189A1
 null

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gregory_09_ASD_discovery_controls-control4
 
 
  Unknown
  NA
  NA
 
 

No Animal Model Data Available
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