Xp21.3CNV Type: Deletion-Duplication
Largest CNV size: 311050 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
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Etiological yield of SNP microarrays in idiopathic intellectual disability.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
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
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-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
547407
1
3
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
395739
0
2
2
kucinska_24_ASD_discovery_cases
Patients referred from the Genetics Clinic and the Neurology Department of the Polish Mothers Memorial Hospital Research Institute from 20182021.
180
Cases diagnosed with ASD according to DSM-IV and DSM-5 criteria and assigned a disease code based on ICD-10 classification; a subset of cases also presented with motor and/or speech developmental delay, intellectual disability, and/or epilepsy.
Range, 2.4-17.9 yrs.
76.67% Male
3628
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
104138
1
0
1
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
95901
1
1
2
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
116147
2
0
2
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
38000
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
160964
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
311050
11
1
12
utine_14_DD/ID/ASD_discovery_cases
Patients referred for genetic evaluation for developmental delay or intellectual disability, with or without accompanying dysmorphic features, single or multiple malformations, growth disorder, behavior disorder and/or autism, and family history of ID/autism (Hacettepe University, Ankara, Turkey)
100
Developmental delay (74 cases with prominent motor delay, 86 with delayed mental milestones; 67 with both) and/or intellectual disability (18 cases with mild ID, 48 with moderate ID, 34 with severe ID); 36 cases with problems in social interactions (considered as "autistic features); 30 cases with history of at least one seizures; 89 cases with brain imaging (normal in 61 cases).
Range, 2-22 yrs. (mean age, 10.8 yrs.)
75% Male
30000
0
1
1
willemsen_12_DD/ID_discovery_cases
Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
4407
Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
2/3 of cases: age range of 1-18 yrs.
54.5% Male
800000
1
0
1
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
550499
0
1
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
545974
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
421799
0
7
7
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
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
116147
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.
293985
9
7
16
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
kucinska_24_ASD_discovery_cases
Poland
aCGH
OGT CytoSure 4x180K
Agilent Feature Extraction v.12.1.0.3, CytoSure Interpret Software v.4.10.
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
utine_14_DD/ID/ASD_discovery_cases
Turkey
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.0
RT-PCR
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
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
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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
engchuan_15_ASD_discovery_cases-case13165_1823
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28229214
28305124
75911
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13211_2323
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
27012361
27062840
50480
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5126_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29003521
29550928
547408
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5418_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28229214
28325114
95901
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001880
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28759823
29094411
334589
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002330
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
28415968
28811707
395740
GRCh38
Duplication
Yes
kucinska_24_ASD_discovery_cases-case19
M
ASD and developmental delay
Autism spectrum disorders, speech development delay, hyperactivity
28852188
28855815
3628
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-MM0087-003
NA
M
ASD
NA
NA
25738489
25842626
104138
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5418_3
NA
M
ASD
NA
NA
28229214
28325114
95901
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case6032_4
NA
F
Autism
High-functioning autism, language delay, normal physical exam, no epilepsy
Normal IQ
28732962
28751750
18789
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case59962-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
25656186
25772332
116147
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60539L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
25105764
25176808
71045
Unknown
Deletion
No
roberts_13_ASD/DD/ID_discovery_cases-ASDcase13
11 yrs.
M
ASD
Dysmorphism
28791772
28829653
37882
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case27668
NA
NA
ASD
NA
NA
28801975
28962939
160964
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
28570422
28576583
6162
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11363.p1
5.9
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
28076809
28076914
106
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11363.p1
5.9
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
27262436
27295233
32798
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11740.p1
11.7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 89; verbal IQ, 115
26227991
26437132
209142
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
27903762
27905455
1694
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11916.p1
4.8
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
25741474
26052524
311051
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12118.p1
12.6
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
28076809
28076914
106
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12130.p1
8.4
F
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
28076809
28081458
4650
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12170.p1
7.8
F
ASD
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77
28076809
28076914
106
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
28570422
28576583
6162
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12827.p1
5.5
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
26424877
26442074
17198
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13056.p1
4.6
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
27903762
27905455
1694
GRCh38
Deletion
No
utine_14_DD/ID/ASD_discovery_cases-case12
6 yrs.
M
Developmental delay and autism/autistic features
Referred at age of 4.5 years for absence of speech and independent walking. Birth/neonatal history: normal. Developmental milestones: walked with support at age of 4 years. Epilepsy/seizures: seizures since age of 15 days. Language and communication evaluation: had only 3-4 words at age of 6 years. Motor and musculoskeletal evaluation: able to walk at age of 6 years. Behavioral/psychiatric evaluation: autism/autistic features. Brain imaging: corpus callosum agenesis observed. Dysmorphic features: deep-set eyes, prominent nasal bridge, short nose with anteverted nares, smooth philtrum with thin upper lip, right-sided epicanthal fold. Growth parameters: microcephaly (head circumference of 44 cm; <3rd %ile) and short stature (height of 90 cm; <3rd %ile). Family history: born to consanguineous parents (first cousins).
Moderate DD/ID (mean area of delay/disability: global)
N/A
N/A
30000
Unknown
Duplication
Yes
willemsen_12_DD/ID_discovery_cases-case27
M
Premature death
IUD
25821962
26621962
800001
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case2-0264-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
29001884
29552383
550500
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0264-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
29005528
29551501
545974
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-controlB438042_1007853841
N/A
N/A
Control
No previous psychiatric history
28230617
28302629
72013
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB479722_1007875261
N/A
N/A
Control
No previous psychiatric history
28213017
28302629
89613
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB675955_1007841005
N/A
N/A
Control
No previous psychiatric history
25213394
25635193
421800
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB856421_1007844843
N/A
N/A
Control
No previous psychiatric history
28090204
28313749
223546
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB892612_1007874849
N/A
N/A
Control
No previous psychiatric history
26893158
27239073
345916
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900156_900156
N/A
N/A
Control
No previous psychiatric history
27350954
27407200
56247
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901048_901048
N/A
N/A
Control
No previous psychiatric history
28230617
28302629
72013
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11397.s1
8.3
F
Control (matched sibling)
NA
NA
28076809
28076914
106
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11433.s1
11.8
F
Control (matched sibling)
NA
NA
28230617
28302629
72013
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11808.s1
12.2
F
Control (matched sibling)
NA
NA
28230617
28302629
72013
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11812.s1
6.3
F
Control (matched sibling)
NA
NA
28230617
28303579
72963
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11872.s1
6
F
Control (matched sibling)
NA
NA
26342993
26380902
37910
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11916.s1
6.9
F
Control (matched sibling)
NA
NA
25741474
26035459
293986
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11963.s1
6.1
F
Control (matched sibling)
NA
NA
28076809
28090204
13396
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12030.s1
8.2
F
Control (matched sibling)
NA
NA
26291032
26393560
102529
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12032.s1
7.2
F
Control (matched sibling)
NA
NA
28076809
28083660
6852
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12121.s1
6.5
F
Control (matched sibling)
NA
NA
28076809
28081458
4650
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12170.s1
5.8
F
Control (matched sibling)
NA
NA
28076809
28076914
106
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
26342993
26386706
43714
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12494.s1
11
F
Control (matched sibling)
NA
NA
29115026
29143137
28112
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12578.s1
8.8
F
Control (matched sibling)
NA
NA
28076809
28076914
106
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12681.s1
12.8
F
Control (matched sibling)
NA
NA
26342993
26407694
64702
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
26342993
26407694
64702
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case13165_1823
Unknown
engchuan_15_ASD_discovery_cases-case13211_2323
Unknown
engchuan_15_ASD_discovery_cases-case5126_4
Unknown
IL1RAPL1
engchuan_15_ASD_discovery_cases-case5418_3
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001880
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNA5SP500,IL1RAPL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002330
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR6134,IL1RAPL1
kucinska_24_ASD_discovery_cases-case19
Unknown
IL1RAPL1
marshall_08_ASD_discovery_cases-MM0087-003
qPCR, qmPCR
Unknown
NA
NA
pinto_10_ASD_discovery_cases-case5418_3
Agilent1M
maternal
NA
NA
pinto_10_ASD_discovery_cases-case6032_4
qPCR
paternal
Multiplex (maternal half-sib with autism)
Not segregated
IL1RAPL1 intronic
prasad_12_ASD_discovery_cases-case59962-L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60539L
Unknown
Unknown
Unknown
0 genes
roberts_13_ASD/DD/ID_discovery_cases-ASDcase13
BACs aCGH or FISH
Unknown
Unknown
Unknown
IL1RAPL1
rosenfeld_10_ASD_discovery_cases-case27668
FISH
Unknown
Unknown
Unknown
IL1RAPL1
sanders_11_ASD_discovery_cases-11277.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11363.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11363.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11740.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11846.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11916.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12118.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12130.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12170.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12691.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12827.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13056.p1
Maternal
Simplex (trio)
NA
utine_14_DD/ID/ASD_discovery_cases-case12
RT-PCR
De novo
Unknown
Possibly segregated
IL1RAPL1
willemsen_12_DD/ID_discovery_cases-case27
Maternal
MAGEB18,MAGEB6B,MAGEB6,MAGEB5,VENTXP1
yuen_17_ASD_discovery_cases-case2-0264-004
Illumina1M
Maternal
Multiplex
Not segregated
IL1RAPL1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0264-003
RT-qPCR or WGS
Maternal
IL1RAPL1
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB438042_1007853841
Unknown
engchuan_15_ASD_discovery_controls-controlB479722_1007875261
Unknown
engchuan_15_ASD_discovery_controls-controlB675955_1007841005
Unknown
RPP40P1
engchuan_15_ASD_discovery_controls-controlB856421_1007844843
Unknown
engchuan_15_ASD_discovery_controls-controlB892612_1007874849
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900156_900156
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901048_901048
Unknown
sanders_11_ASD_discovery_controls-11397.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11433.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11808.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11812.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11872.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11916.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11963.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12030.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12032.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12121.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12170.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12424.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12494.s1
Maternal
Simplex (quad)
NA
IL1RAPL1
sanders_11_ASD_discovery_controls-12578.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12681.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13183.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available