8p21.3CNV Type: Deletion-Duplication
Largest CNV size: 140848 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
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.
Deletion
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-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
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
307000
6
3
9
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
436858
0
1
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
636646
0
2
2
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
66451
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
1381961
1
2
3
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
913000
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
33722
1
1
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
600000
0
1
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
148000
0
1
1
okur_21_ASD/EP/NDD_discovery_cases
Individuals with chromosome 8p rearrangements of invdupdel(8p), del(8p), and dup(8p) (selected from an original cohort of 97 individuals).
89
All patients presented with neurodevelopmental features (NDD); a subset of patients presented with autism spectrum disorder and/or epilepsy/seizures.
Range, 0.8-33.9 yrs.
47.19% Male
1478039
2
0
2
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
140848
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)
10964
0
1
1
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
142949
1
0
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
45779
10
2
12
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
57229
3
0
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
213301
1
2
3
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
125688
0
2
2
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)
160478
0
2
2
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)
142949
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.
16261
0
1
1
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
57229
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
okur_21_ASD/EP/NDD_discovery_cases
N/A
CMA
N/A
N/A
N/A
None
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)
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
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
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)
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
engchuan_15_ASD_discovery_cases-case14140_2380
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19917379
20224379
307001
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14269_3920
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20585603
20647117
61515
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14312_4290
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22355770
22520605
164836
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14357_4710
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22277313
22479376
202064
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14358_4720
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19291525
19325972
34448
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3445_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19608108
19658059
49952
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3452_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19510461
19697887
187427
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)
19582466
19723313
140848
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8488_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19483728
19560517
76790
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0000124
N/A
F
ASD
Family history: both parents are negative for ASD and unknown for other mental health diagnoses.
19818274
20255131
436858
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1292302
Autism
20694915
21331560
636646
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1292303
Autism
20702510
21329051
626542
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU002804
Autism
19412977
19479427
66451
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002625
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21654619
23001935
1347317
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004298
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21482945
22853239
1370295
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005276
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20015542
20735743
720202
GRCh38
Duplication
Yes
kim_18_DD/ID_discovery_cases-case10
2 yrs. 1 mo.
M
Developmental delay/intellectual disability and epilepsy
Absent speech, dysmorphic features, epilepsy, failure to thrive, microcephaly, hypotonia
Severe developmental delay/intellectual disability
20471102
21384196
913095
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case12942.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
23191693
23201921
10229
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14196.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
20145762
20179484
33723
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU1292302
N/A
M
ASD
20800489
21423489
623001
GRCh38
Duplication
No
monteiro_19_ASD_discovery_cases_case24
N/A
M
ASD
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: normal (no developmental delay). Dysmorphic features: none reported.
Normal (no intellectual disability)
22364537
22512769
148233
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_34
5.9 yrs.
M
ASD and epilepsy/seizures
Prenatal history: Gestational DM. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Irritable, Prematurity, Respiratory distress, Nuchal cord. Neurobehavioral profile: Autism, Anxiety. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Seizures: Febrile. Cardiac issues: PFO. Gastrointestinal abnormalities: Constipation, GERD. Growth and Endocrine abnormalities: Obesity/Overweight. Skin abnormalities: Eczema. Dental abnormalities: Crooked teeth.
22000833
23109776
1108944
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_36
16.9 yrs.
M
NDD
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Nuchal cord. Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: Unspecified brain imaging abnormality. Musculoskeletal abnormalities: Unspecified musculoskeletal abnormalities. Growth and Endocrine abnormalities: Delayed puberty, Obesity/Overweight, Hypo/hyperthyroidism, Low cortisol levels, Hypogonadism. Frequent infections: Otitis media. Dental abnormalities: Dental crowding.
21663844
23141882
1478039
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5126_4
NA
M
Autism
Anxiety disorder, delayed language development, sat at 6 m and walked at 12 m, health history uneventful except for asthma as an infant. When last evaluated at age 10 y, no obvious muscular difficulJes were noted.
Low average IQ (5%ile)
19582466
19723313
140848
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI2802A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU067403; NDAR ID NDAR_INVMW859JCC)
22279385
22290348
10964
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case128832
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
19482036
19624984
142949
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11017.p1
4.3
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
23127886
23130480
2595
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11055.p1
12.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 19
19257626
19303404
45779
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11347.p1
15.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
20360580
20364217
3638
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11604.p1
17.2
F
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 23; verbal IQ 13
19930017
19946291
16275
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11825.p1
6.6
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
21841965
21848563
6599
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11977.p1
10.2
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
22164004
22164533
530
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12032.p1
10.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
22565996
22572616
6621
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12113.p1
4.1
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
23214743
23219073
4331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
23141029
23147116
6088
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12510.p1
7.3
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 47
23141029
23144475
3447
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13301.p1
13.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
19732195
19732587
393
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13304.p1
6.9
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
19732195
19732587
393
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case310
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
21832894
21890123
57230
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case311
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
21970322
22007029
36708
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case312
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
21970322
22007029
36708
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
engchuan_15_ASD_discovery_controls-controlB397759_1007873965
N/A
N/A
Control
No previous psychiatric history
22342635
22528966
186332
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB886417_1007872528
N/A
N/A
Control
No previous psychiatric history
20045809
20259110
213302
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902513_902513
N/A
N/A
Control
No previous psychiatric history
19510461
19577970
67510
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control12857.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
23137869
23144635
6767
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14304.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19332954
19458642
125689
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C29878A
N/A
F
Control
NIMH Control (NIMH ID 53597)
22352957
22513434
160478
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C37906A
N/A
F
Control
NIMH Control (NIMH ID 97860)
20145761
20165109
19349
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11247.s1
4.7
F
Control (matched sibling)
NA
NA
22335179
22351440
16262
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case14140_2380
Unknown
RPL30P9,SLC18A1,ATP6V1B2,LPL
engchuan_15_ASD_discovery_cases-case14269_3920
Unknown
engchuan_15_ASD_discovery_cases-case14312_4290
Unknown
RNU6-336P,PPP3CC,PIWIL2,SLC39A14
engchuan_15_ASD_discovery_cases-case14357_4710
Unknown
RNU6-336P,PPP3CC,PIWIL2,SLC39A14
engchuan_15_ASD_discovery_cases-case14358_4720
Unknown
SH2D4A
engchuan_15_ASD_discovery_cases-case3445_3
Unknown
CSGALNACT1
engchuan_15_ASD_discovery_cases-case3452_3
Unknown
CSGALNACT1
engchuan_15_ASD_discovery_cases-case5126_4
Unknown
CSGALNACT1
engchuan_15_ASD_discovery_cases-case8488_202
Unknown
CSGALNACT1
feliciano_19_ASD_discovery_cases-caseSP0000124
Maternal
Simplex
RPL30P9,RNU6-892P,INTS10,SLC18A1,ATP6V1B2,LZTS1,LPL
null
gai_11_ASD_discovery_cases-AU1292302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1292303
Inherited
0 genes
gai_11_ASD_replication_cases-AU002804
Inherited
CSGALNACT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002625
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004298
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005276
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL30P9,RNU6-892P,RNA5SP257,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1
kim_18_DD/ID_discovery_cases-case10
Unknown
TMEM97P2,LINC02153
krumm_15_ASD_discovery_cases-case12942.p1
1M-Duov3
Maternal
Simplex
Segregated
TNFRSF10A
krumm_15_ASD_discovery_cases-case14196.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
SLC18A1
leppa_16_ASD_discovery_cases-AU1292302
Maternal
Multiplex
Not segregated (CNV not present in affected sibling)
TMEM97P2,LINC02153
monteiro_19_ASD_discovery_cases_case24
Maternal
RNU6-336P,PPP3CC,SLC39A14
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_34
Unknown
BMP1,POLR3D,EGR3,DMTN,PIWIL2,CCAR2,HR,BIN3,PDLIM2,NUDT18,REEP4,LGI3,PEBP4,MIR320A,C8orf58,BTF3P3,PPP3CC,SFTPC,RN7SL303P,RNU6-336P,TNFRSF10B,TNFRSF10C,FGF17,PHYHIP,SORBS3,NPM2,XPO7,RHOBTB2,SLC39A14
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_36
Unknown
BMP1,POLR3D,EGR3,DMTN,PIWIL2,CCAR2,HR,BIN3,PDLIM2,NUDT18,REEP4,LGI3,PEBP4,GFRA2,MIR320A,OR6R2P,C8orf58,BTF3P3,PPP3CC,SFTPC,RN7SL303P,RNU6-336P,TNFRSF10B,TNFRSF10C,TNFRSF10D,FGF17,PHYHIP,DOK2,SORBS3,NPM2,XPO7,RHOBTB2,SLC39A14
pinto_10_ASD_discovery_cases-case5126_4
Agilent1M
paternal
Multiplex
NA
CSGALNACT1
poultney_13_ASD_discovery_cases-case04HI2802A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PIWIL2
prasad_12_ASD_discovery_cases-case128832
Unknown
Unknown
Unknown
CSGALNACT1
sanders_11_ASD_discovery_cases-11017.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11055.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11347.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11604.p1
Unknown
Simplex (trio)
NA
LPL
sanders_11_ASD_discovery_cases-11825.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11977.p1
Both parents
Simplex (quad-proband matched)
Segregated
SFTPC
sanders_11_ASD_discovery_cases-12032.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SORBS3
sanders_11_ASD_discovery_cases-12113.p1
Maternal
Simplex (quad-proband matched)
Segregated
TNFRSF10A
sanders_11_ASD_discovery_cases-12221.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
TNFRSF10D
sanders_11_ASD_discovery_cases-12510.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TNFRSF10D
sanders_11_ASD_discovery_cases-13301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CSGALNACT1
sanders_11_ASD_discovery_cases-13304.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
CSGALNACT1
yin_16_ASD_discovery_cases-case310
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case311
Unknown
Unknown
Unknown
XPO7
yin_16_ASD_discovery_cases-case312
Unknown
Unknown
Unknown
XPO7
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB397759_1007873965
Unknown
RNU6-336P,PPP3CC,PIWIL2,SLC39A14
engchuan_15_ASD_discovery_controls-controlB886417_1007872528
Unknown
RPL30P9,RNU6-892P,SLC18A1,ATP6V1B2,LZTS1
engchuan_15_ASD_discovery_controls-controlHABC_902513_902513
Unknown
CSGALNACT1
krumm_15_ASD_discovery_controls-control12857.s1
1M-Duov3
Paternal
TNFRSF10D
krumm_15_ASD_discovery_controls-control14304.s1
Omni2.5-4v1
Maternal
SH2D4A,CSGALNACT1
poultney_13_ASD_discovery_controls-control04C29878A
Unknown
RNU6-336P,PPP3CC,PIWIL2,SLC39A14
poultney_13_ASD_discovery_controls-control04C37906A
Unknown
SLC18A1
sanders_11_ASD_discovery_controls-11247.s1
Maternal
Simplex (quad)
NA
PIWIL2
No Animal Model Data Available