1p36.12CNV Type: Deletion-Duplication
Largest CNV size: 17146 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
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-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
516
1
1
2
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
2349669
1
0
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
789342
2
1
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
5264
3
1
4
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
550000
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)
76352
4
2
6
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
10831
1
0
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
68962
0
1
1
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
17146
7
0
7
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
67909
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
103
1
0
1
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
96839
1
1
2
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_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
1514
3
0
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
57054
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)
132154
2
2
4
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)
10831
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.
52171
5
0
5
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
67909
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
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)
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
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
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
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_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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
celestino-soper_11_ASD_discovery_cases-11455
NA
M
ASD
NA
NA
21176336
21176852
517
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11533
NA
M
ASD
NA
NA
21176336
21176852
517
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262429
N/A
M
Learning disability
Supraventricular tachycardia; Mild short stature; Clinodactyly of the 5th finger; Specific learning disability
20214248
22563917
2349670
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004918
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20374020
20736151
362132
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005112
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20482657
21271999
789343
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005205
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21341595
21861116
519522
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11549.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
20081629
20083143
1515
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12892.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
20081629
20083143
1515
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12921.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
20139427
20144691
5265
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13123.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
20081629
20083143
1515
GRCh38
Deletion
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530904
M
MCA
Abnormal facial shape (HP:0001999)
22503510
23053509
550000
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case00HI1714A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU073006; NDAR ID NDAR_INVXL978NZ9)
21986529
22009859
23331
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case01HI1884A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU025704; NDAR ID NDAR_INVBV989RGU)
21981036
21986685
5650
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI2957A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
21468686
21479402
10717
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3174A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
21468686
21479402
10717
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3269A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1169302; NDAR ID NDAR_INVCC197XMD)
22005445
22078585
73141
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0555A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU044004; NDAR ID NDAR_INVMU758BXY)
22005445
22081796
76352
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case115745L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
21331120
21341950
10831
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-141
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
21994618
22063579
68962
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11091.p1
8.1
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 111; verbal IQ, 136
21979422
21985546
6125
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11301.p1
9.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
21496799
21500073
3275
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11452.p1
8.5
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
21496799
21500073
3275
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11972.p1
8.5
F
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
21945346
21953872
8527
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12100.p1
11.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
20445994
20463140
17147
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
22075978
22078177
2200
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13195.p1
8.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
22173735
22182758
9024
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case13
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
21693659
21761567
67909
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
brandler_18_ASD_discovery_controls-controlSSC02514
N/A
F
Control
Control from SSC_phase1 cohort
21659379
21659482
104
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB993455_1007874404
N/A
N/A
Control
No previous psychiatric history
21459488
21556327
96840
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901170_901170
N/A
N/A
Control
No previous psychiatric history
20229536
20279827
50292
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control12189.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
20081629
20083143
1515
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13252.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
20081629
20083143
1515
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13290.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
20081629
20083143
1515
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11377.s1
NA
M
Control
NA
NA
22005447
22062500
57054
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C28087A
N/A
M
Control
NIMH Control (NIMH ID 85439)
21981036
21986685
5650
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C35810A
N/A
F
Control
NIMH Control (NIMH ID 29095)
21986529
22009859
23331
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C40533A
N/A
F
Control
NIMH Control (NIMH ID 17203)
21468686
21481771
13086
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C44482
N/A
F
Control
NIMH Control (NIMH ID 72407)
22781419
22913572
132154
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11301.s1
7.2
F
Control (matched sibling)
NA
NA
21496799
21500073
3275
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11810.s1
4.4
F
Control (matched sibling)
NA
NA
21358952
21370365
11414
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12341.s1
11.3
F
Control (matched sibling)
NA
NA
20526702
20535613
8912
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12481.s1
9
M
Control (matched sibling)
NA
NA
20229536
20281707
52172
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12621.s1
8.8
M
Control (matched sibling)
NA
NA
21496799
21500073
3275
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11455
Unknown
Simplex
NA
EIF4G3
celestino-soper_11_ASD_discovery_cases-11533
Unknown
Simplex
NA
EIF4G3
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262429
De novo
Simplex
Segregated
LINC01757,CAMK2N1,MUL1,RPS4XP4,FAM43B,MIR6084,RNU7-200P,MIR1256,RPS15AP6,HSPE1P27,PPP1R11P1,NBPF2P,HS6ST1P1,CROCCP5,PFN1P10,LINC02596,RN7SL386P,RNU6-1022P,RN7SL186P,RNU6-776P,LINC01635,LINC00339,CDC42-IT1,MIR4418,PPIAP34,ZBTB40-IT1,LINC01141,CDA,PINK1,PINK1-AS,DDOST,SH2D5,HP1BP3,NBPF3,ALPL,LDLRAD2,CELA3B,CELA3A,CDC42,WNT4,ZBTB40,EPHA8,VWA5B1,KIF17,ECE1,RAP1GAP,USP48,HSPG2,EIF4G3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004918
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CAMK2N1,MUL1,RPS4XP4,FAM43B,MIR6084,LINC01141,CDA,PINK1,PINK1-AS,DDOST,SH2D5,KIF17
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005112
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CAMK2N1,MUL1,RPS4XP4,FAM43B,MIR6084,RNU7-200P,MIR1256,RPS15AP6,HSPE1P27,CDA,PINK1,PINK1-AS,DDOST,SH2D5,HP1BP3,KIF17,ECE1,EIF4G3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005205
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPP1R11P1,NBPF2P,HS6ST1P1,CROCCP5,PFN1P10,LINC02596,NBPF3,ALPL,LDLRAD2,ECE1,RAP1GAP,USP48,HSPG2
krumm_15_ASD_discovery_cases-case11549.p1
Illumina 1M
Paternal
Simplex
Segregated
PLA2G5
krumm_15_ASD_discovery_cases-case12892.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PLA2G5
krumm_15_ASD_discovery_cases-case12921.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PLA2G2F
krumm_15_ASD_discovery_cases-case13123.p1
1M-Duov3
Paternal
Simplex
Segregated
PLA2G5
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530904
Unknown
C1QB,C1QA,C1QC,EPHA8,EPHB2,LACTBL1,TEX46,MIR4253,MIR3115,MIR4684,ZBTB40-IT1,MIR6127,ZBTB40,KDM1A
poultney_13_ASD_discovery_cases-case00HI1714A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RN7SL386P,RNU6-1022P,CELA3B,CELA3A
poultney_13_ASD_discovery_cases-case01HI1884A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CELA3B
poultney_13_ASD_discovery_cases-case04HI2957A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NBPF3
poultney_13_ASD_discovery_cases-case04HI3174A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NBPF3
poultney_13_ASD_discovery_cases-case04HI3269A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RN7SL186P,RNU6-776P,LINC01635,LINC00339,CDC42-IT1,CELA3A,CDC42
poultney_13_ASD_discovery_cases-case98HI0555A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RN7SL186P,RNU6-776P,LINC01635,LINC00339,CDC42-IT1,CELA3A,CDC42
prasad_12_ASD_discovery_cases-case115745L
Unknown
Unknown
Unknown
EIF4G3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-141
qPCR
Maternal
Unknown
Unknown
RN7SL186P,RNU6-776P,LINC01635,LINC00339,CDC42-IT1,CELA3B,CELA3A,CDC42
sanders_11_ASD_discovery_cases-11091.p1
Paternal
Simplex (quad-proband matched)
Segregated
CELA3B
sanders_11_ASD_discovery_cases-11301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11452.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11972.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12100.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12337.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CDC42
sanders_11_ASD_discovery_cases-13195.p1
Maternal
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case13
Unknown
Unknown
Unknown
USP48
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC02514
Not available
Paternal
RAP1GAP
engchuan_15_ASD_discovery_controls-controlB993455_1007874404
Unknown
PFN1P10,NBPF3,ALPL
engchuan_15_ASD_discovery_controls-controlHABC_901170_901170
Unknown
LINC01757
krumm_15_ASD_discovery_controls-control12189.s1
Illumina 1MDuo
Paternal
PLA2G5
krumm_15_ASD_discovery_controls-control13252.s1
1M-Duov3
Paternal
PLA2G5
krumm_15_ASD_discovery_controls-control13290.s1
1M-Duov3
Paternal
PLA2G5
levy_11_ASD_discovery_controls-11377.s1
Paternal
Simplex
NA
RN7SL186P,RNU6-776P,LINC01635,LINC00339,CDC42-IT1,CELA3A,CDC42
poultney_13_ASD_discovery_controls-control04C28087A
Unknown
CELA3B
poultney_13_ASD_discovery_controls-control04C35810A
Unknown
RN7SL386P,RNU6-1022P,CELA3B,CELA3A
poultney_13_ASD_discovery_controls-control05C40533A
Unknown
NBPF3
poultney_13_ASD_discovery_controls-control05C44482
Unknown
MIR4253,EPHB2
sanders_11_ASD_discovery_controls-11301.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11810.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12341.s1
Both parents
Simplex (quad)
NA
RPS4XP4
sanders_11_ASD_discovery_controls-12481.s1
Maternal
Simplex (quad)
NA
LINC01757
sanders_11_ASD_discovery_controls-12621.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available