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11q12.3CNV Type: Deletion-Duplication


Largest CNV size: 115873 bp

Statistics Box:
Number of Reports: 10



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
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...
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
NA
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
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

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
 5012
 1
 0
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 290000
 0
 1
 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
 263697
 2
 2
 4
 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
 662117
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 125144
 1
 5
 6
 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
 
 
 115873
 0
 2
 2
 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
 263698
 1
 0
 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)
 42598
 1
 4
 5
 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
 112551
 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
 21347
 1
 2
 3

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
 70735
 1
 0
 1
 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_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 6619
 0
 2
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 51274
 0
 3
 3
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 63213
 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)
 5175
 1
 0
 1
 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)
 112551
 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.
 
 50741
 2
 2
 4

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
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 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)
 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)
 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
 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
 
 

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_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  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
  brandler_18_ASD_replication_cases-caseSSC07604
 N/A
 M
 ASD
 Case from SSC_phase2 cohort
 
 62640244
 62645255
  5012
 GRCh38
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300371
  NA NA
 N/A
 F
 Developmental delay
 Global developmental delay, behavioral/psychiatric abnormality
 
 62702733
 62993183
  290451
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case5065_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 61992267
 62108139
  115873
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5447_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63351146
 63418157
  67012
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8404_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63079880
 63343577
  263698
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case9660_352
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63319793
 63442584
  122792
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002761
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 62452571
 62862781
  410211
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004350
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 62433886
 63096003
  662118
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12494.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 62832951
 62839570
  6620
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12930.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 62832951
 62839570
  6620
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13514.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 63488870
 63614014
  125145
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13632.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 62389132
 62423091
  33960
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13833.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 62678864
 62694711
  15848
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14322.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 62781893
 62797386
  15494
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5065_3
 NA
 M
 Autism
 Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted
 Below average nonverbal IQ (<1%ile)
 61992267
 62108139
  115873
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5447_3
 NA
 M
 ASD
 NA
 NA
 63351146
 63418157
  67012
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case8404_201
 N/A
 M
 ASD
 Autism. Family history: 2 healhy sisters, not tested; paternal cousin with high functioning ASD.
 Low-average IQ (WISC-III at 15 y: VIQ 84, PIQ 84, FSIQ 83)
 63079880
 63343577
  263698
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case00HI1481A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0039301; NDAR ID NDAR_INVGP517FDJ)
 
 63536867
 63553067
  16201
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI0671A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU033403; NDAR ID NDAR_INVFP134WLL)
 
 62839114
 62856383
  17270
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 62853663
 62884527
  30865
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 62723912
 62766509
  42598
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0868A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU002003; NDAR ID NDAR_INVXV984GE7)
 
 62827341
 62856383
  29043
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case117504L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 62874568
 62949204
  74637
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case60674-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 62354479
 62374000
  19522
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case60836
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 61520840
 61633390
  112551
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11160.p1
 6.9
 F
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 119; verbal IQ, 99
 62857487
 62874527
  17041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11160.p1
 6.9
 F
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 119; verbal IQ, 99
 62214753
 62236100
  21348
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12494.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
 62832260
 62852565
  20306
 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-controlB939437_1007874465
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63080046
  63150781
  70736
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11788.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11788. SRS score of 41.
 
  63290165
  63291643
  1479
  GRCh38
  Duplication
  Yes
  krumm_13_ASD_discovery_controls-control12334.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12334. SRS score of 48.
 
  62832951
  62839570
  6620
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11540.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  62337977
  62389251
  51275
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11788.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  63290165
  63291643
  1479
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12334.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  62832951
  62839570
  6620
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11540.s1
  NA
  F
  Control
  NA
  NA
  62325665
  62388877
  63213
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C32509B
  N/A
  M
  Control
  NIMH Control (NIMH ID 73661)
 
  61962253
  61967427
  5175
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11195.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  63080046
  63105692
  25647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11540.s1
  14.7
  F
  Control (matched sibling)
  NA
  NA
  62335948
  62386689
  50742
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11933.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  62676641
  62678745
  2105
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12334.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  62832260
  62852565
  20306
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-caseSSC07604
 No validation step reported
 
 Paternal
 
 
 GANAB
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300371
 qPCR
 
 Maternal
 
 
 GNG3,POLR2G,TMEM179B,MIR6748,MIR6514,RNU6-118P,RNU2-2P,SNHG1,SNORD22,SNORD30,SNORD28,SNORD27,SNORD26,SNORD25,RN7SL259P,HNRNPUL2-BSCL2,BSCL2,HNRNPUL2,TTC9C,ZBTB3,NXF1,STX5,TEX54,WDR74,SLC3A2,SLC22A6,SLC22A8,TAF6L,TMEM223,CHRM1
 
 engchuan_15_ASD_discovery_cases-case5065_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5447_3
 
 
 Unknown
 
 
 SLC22A9,SLC22A10
 
 engchuan_15_ASD_discovery_cases-case8404_201
 
 
 Unknown
 
 
 RPL29P22,CCND2P1,SLC22A24,SLC22A10,SLC22A25
 
 engchuan_15_ASD_discovery_cases-case9660_352
 
 
 Unknown
 
 
 SLC22A9,SLC22A10
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002761
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR6747,MTA2,ROM1,C11orf98,CSKMT,SNORA57,UQCC3,UBXN1,LRRN4CL,GNG3,POLR2G,TMEM179B,MIR6748,MIR6514,RNU6-118P,RNU2-2P,SNHG1,SNORD22,SNORD30,SNORD28,SNORD27,SNORD26,SNORD25,EEF1G,TUT1,EML3,B3GAT3,GANAB,LBHD1,HNRNPUL2-BSCL2,BSCL2,HNRNPUL2,TTC9C,ZBTB3,NXF1,STX5,TEX54,WDR74,SLC3A2,AHNAK,INTS5,TAF6L,TMEM223
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004350
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR6747,MTA2,ROM1,C11orf98,CSKMT,SNORA57,UQCC3,UBXN1,LRRN4CL,GNG3,POLR2G,TMEM179B,MIR6748,MIR6514,RNU6-118P,RNU2-2P,SNHG1,SNORD22,SNORD30,SNORD28,SNORD27,SNORD26,SNORD25,RN7SL259P,EEF1G,TUT1,EML3,B3GAT3,GANAB,LBHD1,HNRNPUL2-BSCL2,BSCL2,HNRNPUL2,TTC9C,ZBTB3,NXF1,STX5,TEX54,WDR74,SLC3A2,SLC22A6,SLC22A8,SLC22A24,AHNAK,INTS5,TAF6L,TMEM223,CHRM1
 
 krumm_15_ASD_discovery_cases-case12494.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 WDR74
 
 krumm_15_ASD_discovery_cases-case12930.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 WDR74
 
 krumm_15_ASD_discovery_cases-case13514.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 LGALS12,HRASLS5,RARRES3,HRASLS2,PLA2G16
 
 krumm_15_ASD_discovery_cases-case13632.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SCGB1A1,ASRGL1
 
 krumm_15_ASD_discovery_cases-case13833.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 UBXN1,LRRN4CL,HNRNPUL2-BSCL2,BSCL2
 
 krumm_15_ASD_discovery_cases-case14322.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 TMEM179B,MIR6748,MIR6514,NXF1,TAF6L,TMEM223
 
 pinto_10_ASD_discovery_cases-case5065_3
 Agilent1M
 
 paternal
 Multiplex
 Unknown
 
 
 pinto_10_ASD_discovery_cases-case5447_3
 Agilent1M
 
 paternal
 NA
 NA
 SLC22A9,SLC22A10
 
 pinto_14_ASD_discovery_cases2-case8404_201
 qPCR
 
 Paternal
 Extended multiplex
 Unknown
 RPL29P22,CCND2P1,SLC22A24,SLC22A10,SLC22A25
 
 poultney_13_ASD_discovery_cases-case00HI1481A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RARRES3,HRASLS2
 
 poultney_13_ASD_discovery_cases-case99HI0671A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RNU2-2P,SNHG1,SNORD22,SNORD30,SNORD28,SNORD27,SNORD26,SNORD25,WDR74,SLC3A2
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 SNHG1,SNORD30,SNORD28,SNORD27,SNORD26,SNORD25,SLC3A2
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 POLR2G,HNRNPUL2-BSCL2,HNRNPUL2,TTC9C,ZBTB3
 
 poultney_13_ASD_discovery_cases-case99HI0868A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RNU2-2P,SNHG1,SNORD22,SNORD30,SNORD28,SNORD27,SNORD26,SNORD25,STX5,TEX54,WDR74,SLC3A2
 
 prasad_12_ASD_discovery_cases-case117504L
 
 
 Unknown
 Unknown
 Unknown
 SLC22A9
 
 prasad_12_ASD_discovery_cases-case60674-L
 
 
 Unknown
 Unknown
 Unknown
 STX5,WDR74
 
 prasad_12_ASD_discovery_cases-case60836
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11160.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 SLC3A2
 
 sanders_11_ASD_discovery_cases-11160.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12494.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 RNU2-2P,SNHG1,TEX54,WDR74
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB939437_1007874465
 
 
  Unknown
 
 
  RPL29P22,SLC22A24,SLC22A10
 
krumm_13_ASD_discovery_controls-control11788.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  SLC22A10
 
krumm_13_ASD_discovery_controls-control12334.s1
 
 
  Maternal
  Simplex
 
  WDR74
 
krumm_15_ASD_discovery_controls-control11540.s1
  Illumina 1M
 
  Maternal
 
 
  RCC2P6,ASRGL1
 
krumm_15_ASD_discovery_controls-control11788.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SLC22A10
 
krumm_15_ASD_discovery_controls-control12334.s1
  Illumina 1MDuo
 
  Maternal
 
 
  WDR74
 
levy_11_ASD_discovery_controls-11540.s1
 
 
  Maternal
  Simplex
  NA
  NPM1P35,RCC2P6,ASRGL1
 
poultney_13_ASD_discovery_controls-control04C32509B
 
 
  Unknown
 
 
  BEST1,FTH1
 
sanders_11_ASD_discovery_controls-11195.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC22A24
 
sanders_11_ASD_discovery_controls-11540.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RCC2P6,ASRGL1
 
sanders_11_ASD_discovery_controls-11933.s1
 
 
  Paternal
  Simplex (quad)
  NA
  UBXN1
 
sanders_11_ASD_discovery_controls-12334.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU2-2P,SNHG1,TEX54,WDR74
 

No Animal Model Data Available
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