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20p11.23CNV Type: Deletion-Duplication


Largest CNV size: 323306 bp

Statistics Box:
Number of Reports: 13


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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 334786
 2
 1
 3
 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
 
 
 244721
 0
 2
 2
 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
 279000
 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
 112316
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 334027
 2
 1
 3
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 149000
 0
 1
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 194000
 1
 0
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 334787
 0
 1
 1
 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)
 99371
 0
 1
 1
 qiao_12_ASD/ID_discovery_cases
 Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
 52
 ASD and/or ID (intellectual disability)
 NA
 NA
 341237
 0
 2
 2
 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
 323306
 5
 1
 6
 soueid_16_ASD_discovery_cases
 Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
 41
 All cases fulfilled DSM-V criteria for autism
 Range, 3-18 yrs.
 92.68% Male
 132000
 1
 0
 1
 soueid_16_DD/ID_discovery_cases
 Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 35
 Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 N/A
 N/A
 0
 0
 0
 0
 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
 263646
 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
 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
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 28934
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 334027
 0
 1
 1
 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)
 202999
 0
 1
 1
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 323306
 6
 1
 7
 soueid_16_ASD_discovery_controls
 Control cohort of normal participants
 37
 Control
 N/A
 51.35% Male
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 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
 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)
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 qiao_12_ASD/ID_discovery_cases
  Canadian
 Array SNP
  Affymetrix 2.7M
 
 Affymetrix ChAS v.1.1
 QMPSF
 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
 
 
 soueid_16_ASD_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 soueid_16_DD/ID_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 wang_18_TS_discovery_cases
  N/A
 WES
  Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
 
 CoNIFER
 qPCR

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
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  soueid_16_ASD_discovery_controls
  Lebanon
  Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
  Affymetrix ChAS
  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
  engchuan_15_ASD_discovery_cases-case18113_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18180693
 18515479
  334787
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3038_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18035277
 18075282
  40006
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4439_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19333482
 19384752
  51271
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1520301
 
 
 Autism
 
 
 17818723
 18063443
  244721
 Unknown
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1520302
 
 
 Autism
 
 
 17818723
 18063443
  244721
 Unknown
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13915.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
 18211356
 18491356
  280001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-AU2050301
 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
 18211356
 18491356
  280001
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001945
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18430311
 18542627
  112317
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11474.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 18535647
 18542404
  6758
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12261.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 18510835
 18535742
  24908
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13023.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 18181709
 18515736
  334028
 GRCh38
 Duplication
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown111
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 20700497
 20849844
  149348
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam222Proband7741
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 18609101
 18802849
  193749
 GRCh38
 Deletion
 No
  pinto_14_ASD_discovery_cases2-case18113_302
 N/A
 F
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 18180693
 18515479
  334787
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case05HI4003A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1520302; NDAR ID NDAR_INVCE193UP7)
 
 17942355
 18041725
  99371
 GRCh38
 Duplication
 No
  qiao_12_ASD_discovery_cases-case10-61A
 NA
 NA
 ASD and/or ID
 NA
 NA
 18110620
 18451857
  341237
 Unknown
 Duplication
 Yes
  qiao_12_ASD_discovery_cases-case10-62A
 NA
 NA
 ASD and/or ID
 NA
 NA
 18110620
 18451857
  341237
 Unknown
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-12261.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
 18507148
 18540436
  33289
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12638.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
 19193306
 19205326
  12021
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12780.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 110; verbal IQ, 121
 20275085
 20289718
  14634
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12810.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 58; verbal IQ, 77
 20977010
 20985110
  8101
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13012.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 60; verbal IQ, 21
 19089508
 19118441
  28934
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13023.p1
 4.3
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 118; verbal IQ, 106
 18180693
 18503999
  323307
 GRCh38
 Duplication
 No
  soueid_16_ASD_discovery_cases-caseCLIN24
 N/A
 M
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 20460383
 20592373
  131991
 GRCh38
 Deletion
 No
  wang_18_TS_discovery_cases-caseM_Gre_167.p1
 N/A
 N/A
 Tourette syndrome
 Tourette syndrome proband from phase 2 cohort; no additional clinical information available
 
 18041533
 18305178
  263646
 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
  kanduri_15_ASD_discovery_controls-control_split444
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  19070152
  19099085
  28934
  Unknown
  Deletion
  No
  krumm_15_ASD_discovery_controls-control13023.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  18181709
  18515736
  334028
  GRCh38
  Duplication
  Yes
  poultney_13_ASD_discovery_controls-control04C32540A
  N/A
  M
  Control
  NIMH Control (NIMH ID 54799)
 
  17942355
  18145353
  202999
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11229.s1
  6.1
  M
  Control (matched sibling)
  NA
  NA
  20215895
  20218096
  2202
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  19193306
  19205326
  12021
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12076.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  19193306
  19205326
  12021
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12729.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  19089508
  19119504
  29997
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12780.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  20275085
  20289718
  14634
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13012.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  19089508
  19118441
  28934
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13023.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  18180693
  18503999
  323307
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case18113_302
 
 
 Unknown
 
 
 RN7SL14P,RNU2-56P,RN7SKP74,LINC00851,GCNT1P1,RNA5SP476,MIR3192,RPL21P3,RBBP9,RPS19P1,KAT14,ZNF133,DZANK1,SEC23B,POLR3F
 
 engchuan_15_ASD_discovery_cases-case3038_3
 
 
 Unknown
 
 
 OVOL2
 
 engchuan_15_ASD_discovery_cases-case4439_1
 
 
 Unknown
 
 
 SLC24A3
 
 gai_11_ASD_discovery_cases-AU1520301
 
 
 Inherited
 
 
 SNX5, SNORD17, C20orf72, OVOL2
 
 gai_11_ASD_discovery_cases-AU1520302
 
 
 Inherited
 
 
 SNX5, SNORD17, C20orf72, OVOL2
 
 girirajan_13a_ASD_discovery_cases-13915.p1
 
 
 Unknown
 Simplex
 Unknown
 RN7SL14P,RNU2-56P,RN7SKP74,LINC00851,GCNT1P1,RNA5SP476,MIR3192,RPL21P3,RBBP9,ZNF133,DZANK1,POLR3F
 
 girirajan_13a_ASD_discovery_cases-AU2050301
 
 
 Unknown
 Multiplex
 Unknown
 RN7SL14P,RNU2-56P,RN7SKP74,LINC00851,GCNT1P1,RNA5SP476,MIR3192,RPL21P3,RBBP9,ZNF133,DZANK1,POLR3F
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001945
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNA5SP476,MIR3192,RPL21P3,RBBP9,RPS19P1,DZANK1,SEC23B,POLR3F
 
 krumm_15_ASD_discovery_cases-case11474.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SEC23B
 
 krumm_15_ASD_discovery_cases-case12261.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SEC23B
 
 krumm_15_ASD_discovery_cases-case13023.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 RN7SL14P,RNU2-56P,RN7SKP74,LINC00851,GCNT1P1,RNA5SP476,MIR3192,RPL21P3,RBBP9,RPS19P1,KAT14,ZNF133,DZANK1,SEC23B,POLR3F
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown111
 
 
 Maternal
 Unknown
 Unknown
 LLPHP1,RN7SL607P,RALGAPA2
 
 nava_13_ASD_discovery_cases-Fam222Proband7741
 
 
 Paternal
 Simplex
 Unknown
 RNU6ATAC34P,DUXAP7,EEF1A1P34,LINC00652,DTD1
 
 pinto_14_ASD_discovery_cases2-case18113_302
 qPCR
 
 Paternal
 Multiplex
 Segregated (CNV also present in 2 affected siblings)
 RN7SL14P,RNU2-56P,RN7SKP74,LINC00851,GCNT1P1,RNA5SP476,MIR3192,RPL21P3,RBBP9,RPS19P1,KAT14,ZNF133,DZANK1,SEC23B,POLR3F
 
 poultney_13_ASD_discovery_cases-case05HI4003A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 SNORD17,PTMAP3,OVOL2,MGME1,SNX5
 
 qiao_12_ASD_discovery_cases-case10-61A
 QMPSF
 
 Maternal
 Unknown
 Unknown
 CSRP2BP,ZNF133,DZANK1,POLR3F,RBBP9,SEC23B
 
 qiao_12_ASD_discovery_cases-case10-62A
 QMPSF
 
 Maternal
 Unknown
 Unknown
 CSRP2BP,ZNF133,DZANK1,POLR3F,RBBP9,SEC23B
 
 sanders_11_ASD_discovery_cases-12261.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SEC23B
 
 sanders_11_ASD_discovery_cases-12638.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12780.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CFAP61
 
 sanders_11_ASD_discovery_cases-12810.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13012.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13023.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RN7SL14P,RNU2-56P,RN7SKP74,LINC00851,GCNT1P1,RNA5SP476,MIR3192,RPL21P3,RBBP9,KAT14,ZNF133,DZANK1,POLR3F
 
 soueid_16_ASD_discovery_cases-caseCLIN24
 
 
 Maternal
 Simplex
 
 RALGAPA2
 
 wang_18_TS_discovery_cases-caseM_Gre_167.p1
 qPCR
 
 De novo
 
 
 RPL15P1,RNU7-137P,PET117,RN7SL14P,RNU2-56P,RN7SKP74,OVOL2,KAT14,ZNF133
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_controls-control_split444
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, C20orf78(dist=259313),SLC24A3(dist=94205)
 
krumm_15_ASD_discovery_controls-control13023.s1
  Illumina 1MDuo
 
  Maternal
 
 
  RN7SL14P,RNU2-56P,RN7SKP74,LINC00851,GCNT1P1,RNA5SP476,MIR3192,RPL21P3,RBBP9,RPS19P1,KAT14,ZNF133,DZANK1,SEC23B,POLR3F
 
poultney_13_ASD_discovery_controls-control04C32540A
 
 
  Unknown
 
 
  SNORD17,PTMAP3,RPL15P1,RNU7-137P,PET117,OVOL2,MGME1,KAT14,SNX5
 
sanders_11_ASD_discovery_controls-11229.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CFAP61
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12076.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12729.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12780.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CFAP61
 
sanders_11_ASD_discovery_controls-13012.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13023.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RN7SL14P,RNU2-56P,RN7SKP74,LINC00851,GCNT1P1,RNA5SP476,MIR3192,RPL21P3,RBBP9,KAT14,ZNF133,DZANK1,POLR3F
 

No Animal Model Data Available
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