18q11.2CNV Type: Deletion-Duplication
Largest CNV size: 60788 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
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...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
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
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
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
21859
1
0
1
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
38063
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
85152
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
122374
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
2216130
0
1
1
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
192293
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
12220
0
1
1
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
41426
1
0
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
932000
1
1
2
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
95576
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)
48081
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
60788
7
3
10
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
465499
1
1
2
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
220366
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_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
2419
0
1
1
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
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
41426
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.
0
0
0
0
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)
109043
0
2
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
39419
6
0
6
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
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
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
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
larson_17_ASD_discovery_controls
N/A
N/A
N/A
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
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-case2-1736-003
N/A
M
ASD
Case from MSSNG cohort
21555746
21577604
21859
GRCh38
Deletion
No
costa_21_ASD_discovery_cases-caseP70
NA
F
ASD
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: reflux, convulsion, umbilical hernia, allergic rhinitis.
21777881
21815943
38063
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14214_3450
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24625595
24710747
85153
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseY46
4 yrs. 5 mos.
M
ASD
21701965
21824338
122374
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001902
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
24411993
26628123
2216131
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12697.p1
N/A
M
ASD
ASD proband from SSC quad family 12697. SRS score of 80.
Full-scale IQ (FSIQ) score of 85.
26856210
27048503
192294
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11099.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
23617731
23629951
12221
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case24
N/A
M
ASD and psychosis
Male, above average IQ, psychosis onset late teens, diagnosis of schizoaffective disorder (depressed type), family history of depression and psychosis, but not in FDRs. CNV not reported in DGV.
Above average IQ
24007712
24049138
41427
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown73
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
21861069
22793627
932559
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown74
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)
23722105
23821440
99336
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-206-1
ASD
22257582
22353157
95576
Unknown
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
23819839
23867919
48081
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11099.p1
11.4
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
23619089
23629736
10648
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11202.p1
11.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
23194133
23205841
11709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11620.p1
16.5
M
ASD
NA
Full-scale IQ, 102; non-verbal IQ, 119; verbal IQ, 110
24476802
24480951
4150
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11740.p1
11.7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 89; verbal IQ, 115
23194133
23204380
10248
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11780.p1
4.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 112; verbal IQ, 120
27026496
27072538
46043
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12208.p1
7.4
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
27094047
27147783
53737
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12454.p1
5.5
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
23836194
23896982
60789
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
26196471
26211125
14655
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13083.p1
7.5
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
23822334
23861753
39420
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13233.p1
13.6
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
22474248
22486192
11945
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case7-0068-003
N/A
F
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: non-verbal learning disorder; 46, XX t(13;17)(q11;p11.1)mat
21767540
21775039
7500
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU4030303
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
21803040
22268537
465498
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-controlHABC_900515_900515
N/A
N/A
Control
No previous psychiatric history
27289461
27509827
220367
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902685_902685
N/A
N/A
Control
No previous psychiatric history
26882647
26924809
42163
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control12394.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12394. SRS score of 36.
23477005
23479424
2420
GRCh38
Duplication
No (not tested)
poultney_13_ASD_discovery_controls-control04C31231A
N/A
M
Control
NIMH Control (NIMH ID 33455)
22936850
23026249
89400
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C45254
N/A
M
Control
NIMH Control (NIMH ID 42966)
24069155
24178197
109043
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11167.s1
7.3
M
Control (matched sibling)
NA
NA
23822334
23861753
39420
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11740.s1
9.3
M
Control (matched sibling)
NA
NA
23194133
23204380
10248
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12582.s1
9.2
M
Control (matched sibling)
NA
NA
23194133
23205841
11709
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12610.s1
8.8
F
Control (matched sibling)
NA
NA
23845022
23861520
16499
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12788.s1
11.1
F
Control (matched sibling)
NA
NA
23103045
23127151
24107
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13226.s1
10.3
F
Control (matched sibling)
NA
NA
23194133
23205841
11709
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case2-1736-003
No validation step reported
Maternal
ESCO1
costa_21_ASD_discovery_cases-caseP70
Unknown
MIB1,RN7SL233P
engchuan_15_ASD_discovery_cases-case14214_3450
Unknown
RAC1P1,PPIAP57,LINC01915
han_22_ASD/DD/ID_discovery_cases-caseY46
Maternal
MIB1,ABHD3,RN7SL233P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001902
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
EIF4A3P1,RAC1P1,PPIAP57,WBP2P1,RN7SL97P,RPS24P18,DHFRP1,NPM1P2,SINHCAFP1,RNU6-1289P,LINC01543,MIR8057,CIAPIN1P,IMPACT,HRH4,LINC01894,PSMA8,LINC01915,SS18,TAF4B,KCTD1,ZNF521
krumm_13_ASD_discovery_cases-case12697.p1
Paternal
Simplex
Segregated
AQP4,AQP4-AS1,CHST9
krumm_15_ASD_discovery_cases-case11099.p1
Illumina 1M
Paternal
Simplex
Segregated
ANKRD29
larson_17_ASD_discovery_cases-case24
Unknown
Unknown
TTC39C-AS1,TTC39C
maini_18_ASD/DD/ID_discovery_cases-case_unknown73
Unknown
Unknown
Unknown
RNU6-1038P,RNA5SP451,RNU6ATAC20P,RNU6-702P,CTAGE1,RPS4XP18,RNU6-1032P,GATA6-AS1,GATA6,MIB1,LINC01900
maini_18_ASD/DD/ID_discovery_cases-case_unknown74
Maternal
Unknown
Unknown
LAMA3
nord_11_ASD_discovery_cases-206-1
Maternal
KCTD1
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
LAMA3
sanders_11_ASD_discovery_cases-11099.p1
Paternal
Simplex (quad-proband matched)
Segregated
ANKRD29
sanders_11_ASD_discovery_cases-11202.p1
Both parents
Simplex (trio)
NA
CABLES1,TMEM241
sanders_11_ASD_discovery_cases-11620.p1
Maternal
Simplex (quad-proband matched)
Segregated
HRH4
sanders_11_ASD_discovery_cases-11740.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CABLES1,TMEM241
sanders_11_ASD_discovery_cases-11780.p1
Paternal
Simplex (trio)
NA
AQP4-AS1,CHST9
sanders_11_ASD_discovery_cases-12208.p1
Maternal
Simplex (trio)
NA
AQP4-AS1,CHST9
sanders_11_ASD_discovery_cases-12454.p1
Paternal
Simplex (trio)
NA
LAMA3
sanders_11_ASD_discovery_cases-12638.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NPM1P2
sanders_11_ASD_discovery_cases-13083.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LAMA3
sanders_11_ASD_discovery_cases-13233.p1
Maternal
Simplex (quad-proband matched)
Not segregated
yuen_17_ASD_discovery_cases-case7-0068-003
Not detected
Paternal
Simplex
Unknown
MIB1
yuen_17_ASD_discovery_cases-caseAU4030303
Not available
Unknown
Simplex
Unknown
MIR133A1HG,MIR133A1,MIR1-2,RNU6-1038P,RNA5SP451,RNU6ATAC20P,RNU6-702P,GATA6-AS1,GATA6,MIB1,LINC01900
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900515_900515
Unknown
UBA52P9,RBM22P1,PA2G4P3
engchuan_15_ASD_discovery_controls-controlHABC_902685_902685
Unknown
AQP4-AS1,CHST9
krumm_13_ASD_discovery_controls-control12394.s1
Paternal
Simplex
RIOK3
poultney_13_ASD_discovery_controls-control04C31231A
Unknown
RN7SL745P,RBBP8
poultney_13_ASD_discovery_controls-control05C45254
Unknown
RNU5A-6P,RNA5SP452,CABYR,OSBPL1A,TTC39C
sanders_11_ASD_discovery_controls-11167.s1
Unknown
Simplex (quad)
NA
LAMA3
sanders_11_ASD_discovery_controls-11740.s1
Unknown
Simplex (quad)
NA
CABLES1,TMEM241
sanders_11_ASD_discovery_controls-12582.s1
Unknown
Simplex (quad)
NA
CABLES1,TMEM241
sanders_11_ASD_discovery_controls-12610.s1
Maternal
Simplex (quad)
NA
LAMA3
sanders_11_ASD_discovery_controls-12788.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13226.s1
Unknown
Simplex (quad)
NA
CABLES1,TMEM241
No Animal Model Data Available