17p13.2-p13.1CNV Type: Duplication
Largest CNV size: 1262213 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
Summary Information
Summary statement in development
Additional Locus Information
References
Major 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.
Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
1323608
0
1
1
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
2535043
2
0
2
krumm_13_ASD_discovery_cases
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
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
1022173
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1023328
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
1262213
0
1
1
maini_18_ASD/DD/ID_discovery_cases
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
1560000
0
1
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
102094
2
0
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
796933
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
114431
6
0
6
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
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
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
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
104834
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
krumm_13_ASD_discovery_cases
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_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
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
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
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
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
girirajan_13a_ASD_discovery_cases-11532.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
6118674
7442283
1323610
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001004
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
5732977
8038822
2305846
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005202
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6307904
8842949
2535046
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11532.p1
N/A
M
ASD
ASD proband from SSC quad family 11532. SRS score of 77.
Full-scale IQ (FSIQ) score of 59.
6426614
7448788
1022175
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11532.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6425459
7448788
1023330
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11532.p1
NA
M
ASD
NA
NA
6188285
7450498
1262214
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown63
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 pathogenic
6578768
8144452
1565685
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1029-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: no.
6855195
6957288
102094
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-290
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: N/A.
Developmental delay: yes. Intellectual disability: N/A.
6855195
6957288
102094
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11532.p1
9.1
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 65; verbal IQ, 60
6214795
7011729
796935
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
engchuan_15_ASD_discovery_controls-control110036024784_
N/A
N/A
Control
No previous psychiatric history
6855195
6957288
102094
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB505778_1007874875
N/A
N/A
Control
No previous psychiatric history
6855195
6957288
102094
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB682449_1007853873
N/A
N/A
Control
No previous psychiatric history
6855195
6969626
114432
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900590_900590
N/A
N/A
Control
No previous psychiatric history
6855195
6957288
102094
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900609_900609
N/A
N/A
Control
No previous psychiatric history
6855195
6957288
102094
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902629_902629
N/A
N/A
Control
No previous psychiatric history
6855195
6957288
102094
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C27090
Control
6698899
6803732
104834
Unknown
Deletion
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13a_ASD_discovery_cases-11532.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
RNU6-1264P,BTF3P14,PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,SLC16A13,SLC16A11,RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,WSCD1,KIAA0753,SLC13A5,XAF1,FBXO39,BCL6B,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,TNK1,NLGN2,FGF11,AIPL1,PITPNM3,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1,CLEC10A,DLG4,ACAP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001004
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-1264P,BTF3P14,PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,SLC16A13,SLC16A11,RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,SLC35G6,TNFSF13,EIF4A1,SNORA48,SNORD10,SNORA67,CD68,SOX15,SAT2,EFNB3,RPL29P2,TMEM88,CYB5D1,SCARNA21,KCNAB3,TRAPPC1,WSCD1,KIAA0753,SLC13A5,XAF1,FBXO39,BCL6B,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,TNK1,NLGN2,FGF11,CHRNB1,POLR2A,TNFSF12,TNFSF12-TNFSF13,SENP3,SENP3-EIF4A1,MPDU1,SHBG,ATP1B2,TP53,WRAP53,KDM6B,CHD3,RNF227,CNTROB,GUCY2D,AIPL1,PITPNM3,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1,CLEC10A,DLG4,ZBTB4,FXR2,DNAH2,NAA38,ACAP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005202
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BTF3P14,PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,SLC16A13,SLC16A11,RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,SLC35G6,TNFSF13,EIF4A1,SNORA48,SNORD10,SNORA67,CD68,SOX15,SAT2,EFNB3,RPL29P2,TMEM88,CYB5D1,SCARNA21,KCNAB3,TRAPPC1,MIR4314,HES7,MIR6883,SNORD118,MIR4521,BORCS6,LINC00324,RANGRF,ARHGEF15,ODF4,RPL26,RNF222,RNU7-43P,PPIAP52,SPDYE4,KIAA0753,SLC13A5,XAF1,FBXO39,BCL6B,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,TNK1,NLGN2,FGF11,CHRNB1,POLR2A,TNFSF12,TNFSF12-TNFSF13,SENP3,SENP3-EIF4A1,MPDU1,SHBG,ATP1B2,TP53,WRAP53,KDM6B,CHD3,RNF227,CNTROB,GUCY2D,ALOX15B,ALOX12B,ALOXE3,PER1,VAMP2,TMEM107,AURKB,CTC1,SLC25A35,KRBA2,NDEL1,CCDC42,MFSD6L,PIK3R6,AIPL1,PITPNM3,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1,CLEC10A,DLG4,ZBTB4,FXR2,DNAH2,NAA38,PFAS,MYH10,ACAP1
krumm_13_ASD_discovery_cases-case11532.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,SLC16A13,SLC16A11,RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,KIAA0753,SLC13A5,XAF1,FBXO39,BCL6B,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,TNK1,NLGN2,FGF11,CHRNB1,AIPL1,PITPNM3,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1,CLEC10A,DLG4,ACAP1
krumm_15_ASD_discovery_cases-case11532.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,SLC16A13,SLC16A11,RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,KIAA0753,SLC13A5,XAF1,FBXO39,BCL6B,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,TNK1,NLGN2,FGF11,CHRNB1,AIPL1,PITPNM3,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1,CLEC10A,DLG4,ACAP1
levy_11_ASD_discovery_cases-11532.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
RNU6-1264P,BTF3P14,PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,SLC16A13,SLC16A11,RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,KIAA0753,SLC13A5,XAF1,FBXO39,BCL6B,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,TNK1,NLGN2,FGF11,CHRNB1,AIPL1,PITPNM3,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1,CLEC10A,DLG4,ACAP1
maini_18_ASD/DD/ID_discovery_cases-case_unknown63
De novo
Unknown
Unknown
RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,SLC16A13,SLC16A11,RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,SLC35G6,TNFSF13,EIF4A1,SNORA48,SNORD10,SNORA67,CD68,SOX15,SAT2,EFNB3,RPL29P2,TMEM88,CYB5D1,SCARNA21,KCNAB3,TRAPPC1,MIR4314,HES7,KIAA0753,SLC13A5,XAF1,FBXO39,BCL6B,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,TNK1,NLGN2,FGF11,CHRNB1,POLR2A,TNFSF12,TNFSF12-TNFSF13,SENP3,SENP3-EIF4A1,MPDU1,SHBG,ATP1B2,TP53,WRAP53,KDM6B,CHD3,RNF227,CNTROB,GUCY2D,ALOX15B,ALOX12B,ALOXE3,PER1,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1,CLEC10A,DLG4,ZBTB4,FXR2,DNAH2,NAA38,ACAP1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1029-0
qPCR
Unknown
Unknown
Unknown
ALOX12P2,ALOX12-AS1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-290
qPCR
Paternal
Unknown
Unknown
ALOX12P2,ALOX12-AS1
sanders_11_ASD_discovery_cases-11532.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
BTF3P14,PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,KIAA0753,SLC13A5,XAF1,FBXO39,AIPL1,PITPNM3,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036024784_
Unknown
ALOX12P2,ALOX12-AS1
engchuan_15_ASD_discovery_controls-controlB505778_1007874875
Unknown
ALOX12P2,ALOX12-AS1
engchuan_15_ASD_discovery_controls-controlB682449_1007853873
Unknown
ALOX12P2,ALOX12-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900590_900590
Unknown
ALOX12P2,ALOX12-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900609_900609
Unknown
ALOX12P2,ALOX12-AS1
engchuan_15_ASD_discovery_controls-controlHABC_902629_902629
Unknown
ALOX12P2,ALOX12-AS1
nord_11_ASD_discovery_controls-04C27090
ALOX12P2
No Animal Model Data Available