10q25.3CNV Type: Deletion-Duplication
Largest CNV size: 126930 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
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.
Duplication
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.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
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
1377
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
309000
0
1
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
126929
0
2
2
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
302604
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
2430777
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
126930
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
135045
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
16747
12
0
12
stark_10_ASD_discovery_cases
Affected male born to non-consanguineous parents with healthy twin sister
1
Diagnosis of PDD-NOS based on limited repertoire of play and impaired social interactions (diagnostic tool NA). Case also presented with cognitive impairment/intellectual disability, postnatal growth retardation, ataxia, and facial dysmorphisms.
4 yrs.
Male
325000
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
135045
0
1
1
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases
Three unrelated patients with 2p16.3/NRXN1 deletions seen at the Service for Mental Health and Intellectual Disability at the Parc Hospitalari Marti I Julia (Girona, Catalunya, Spain) and referred to the Clinical Genetics Department at the Corporacio Sanitaria Parc Tauli (Sabasell, Catalunya, Spain).
3
All three cases present with intellectual disability; additional diagnoses of bipolar disorder (case 1), ASD (case 2) and ADHD (case 3). Psychopathological evaluation tests: PASS-ADD, Compulsive behavior checklist, and Y-BOCS (cases 1 and 2). Cognitive evaluation tests: K-BIT, FCRO, Color Trail Test 1 and 2, PIEN-ID, BRIEF, ADOS, and Tower of London (cases 1 and 2); WISC-IV, Bayley II, and Reynell (case 3). Behavioral evaluation tests: ABC scale, ABS-RC:2 (cases 1 and 2).
Range, 11-21 yrs.
66.67% Male
331000
0
1
1
xu_08_WAGR/ASD/DD/ID_discovery_cases
Patients with WAGR syndrome and de novo deletions in the 11p14-p12 region previously detected by FISH
31
All 31 patients diagnosed with WAGR syndrome; neurodevelopmental comorbidities within this cohort include intellectual disability, developmental delay, autism, ADHD, seizures, anxiety, obsessive-compulsive behaviors, and speech delay/speech disorder
Range, 3-46 yrs.
45.16% Male
129500
0
1
1
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
36806
1
0
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
46530
2
0
2
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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)
135045
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.
38565
14
1
15
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
36806
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
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
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
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
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
stark_10_ASD_discovery_cases
Australian
Array SNP
Affymetrix 250K Nsp chip
aCGH (BACs aCGH), FISH
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
Array SNP
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases
Spain
aCGH
Agilent 400K
Agilent Workbench 5.0, Cytogenetics software, BioDiscovery Nexus 6.1
MLPA
xu_08_WAGR/ASD/DD/ID_discovery_cases
N/A
aCGH
Agilent 4x44K, custom Agilent array
None
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
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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-11303
NA
M
ASD
NA
NA
116378248
116379625
1378
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300079
N/A
M
Developmental delay/intellectual disability
115964414
116273244
308831
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3125_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
115264539
115362456
97918
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5454_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116397471
116524400
126930
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-7407107791
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
114584404
114887008
302605
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000836
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
114584882
117015907
2431026
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5454_3
NA
M
ASD
NA
NA
116397471
116524400
126930
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case95458L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
116391333
116526377
135045
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11347.p1
15.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
113449306
113456259
6954
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11456.p1
8.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
113748623
113753374
4752
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11471.p1
13.9
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 89; verbal IQ, 31
113449306
113456259
6954
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11693.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 76; verbal IQ, 88
113748623
113753374
4752
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
113748623
113753374
4752
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12175.p1
5.1
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
113449306
113456259
6954
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12354.p1
4.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 81
113567027
113567434
408
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12485.p1
6.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
113745876
113753374
7499
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12723.p1
6.7
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
113748623
113753374
4752
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12921.p1
11.4
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
113567027
113567434
408
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13053.p1
4.6
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
113748623
113753374
4752
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13088.p1
6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 67
115352541
115369288
16748
GRCh38
Deletion
No
stark_10_ASD_discovery_cases-case1
4 yrs.
M
PDD-NOS
Diagnosis of ASD (pervasive developmental disorder-not otherwise specified/PDD-NOS). Birth/neonatal history: 34-week product of twin pregnancy conceived through in vitro fertilization; cardiac murmur detected in neonatal period; echocardiogram demonstrated small muscular ventricular septal defect (VSD) that spontaneously closed; initial problems of poor suck and hypotonia requiring tube feeding for first 2 weeks. Developmental milestones: moderate delay across all domains, but no developmental regression; unable to sit unsupported, had not developed pincer grip, and unable to feed himself from a bottle at 13 months; able to walk with a wide-based and mildly ataxic gait at 2 years. Language and communication skills: only able to speak two distinct words. Behavioral/psychiatric characteristics: limited repertoire of play and impaired social interactions. Still unable to feed himself. Brain & pituitary gland MRI (30 months of age): normal. Awake EEG: normal. Hearing: normal. Vision: normal, apart from mild left exotropia. Other health concerns: persistent eczema, recurrent otitis media. Musculoskeletal features: able to walk well at 4 years; mildly ataxic gait; no nystagmus; generally reduced tone; limitation of pronation and supination of the elbows; normal reflexes; radioulnar synostosis. Dysmorphic features: prominent forehead, epicanthal folds, unusual arched eyebrows, mild ptosis, small mouth, small and squared ears, bilateral single palmar creases, mild 2/3 toe syndactyly. Growth parameters: height, 97.4 cm (10th %ile); weight, 13.5 kg (25th %ile); head circumference, 47 cm (2nd %ile). Family history: non-consanguineous parents; healthy twin sister.
Cognitive impairment/intellectual disability
115349028
115674147
325120
GRCh38
Deletion
Yes
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
116391333
116526377
135045
GRCh38
Duplication
Yes
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case3
11 yrs.
M
ADHD and intellectual disability
Diagnosis of attention deficit hyperactivity disorder (ADHD) at age of 9 years. Birth/neonatal history: during pregnancy, mother suffered hyperemesis gravidarum and had surgical intervention for sacral cyst and retroplacental hematoma; born full-term with birth weight of 2800 g and length of 50 cm; no congenital abnormalities observed at birth; had breastfeeding and artificial feeding difficulties and frequent vomiting. Developmental milestones: unable to chew, had not acquired any language, and presented severe sleep disturbances at age of 3 years. Language and communication evaluation: language impairment (both expression and comprehension). Behavioral/psychiatric evaluation: autistic traits with hyperactivity and challenging behavior; presented many fears, sleep disturbances, and looked very anxious. Dysmorphic features: mildly long face, deep set eyes, prominent premaxilla, long philtrum. Growth parameters: height 3rd %ile, weight 3rd %ile, OFC 3rd %ile. Family history: only child of non-consanguineous parents; family history of borderline IQ (dysexecutive pattern) and psychiatric disorder (anxiety) in mother and two maternal aunts; father required treatment for OCD and showed reduced verbal memory.
Mild intellectual disability (IQ of 53); neuropsychological profile characterized by language impairment (both expression and comprehension), poor working memory, and attention.
115964214
116295354
331141
GRCh38
Duplication
Yes
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF23a
16 yrs.
M
WAGR syndrome, ASD, DD, and ID
Autism, developmental delay, obsessive-compulsive, speech disorder
Intellectual disability
113917046
114046595
129550
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case395
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
117312655
117349460
36806
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-controlB473026_1007872207
N/A
N/A
Control
No previous psychiatric history
114703284
114734785
31502
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902828_902828
N/A
N/A
Control
No previous psychiatric history
117012508
117059038
46531
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11347.s1
17
M
Control (matched sibling)
NA
NA
113449306
113456259
6954
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11471.s1
7.8
F
Control (matched sibling)
NA
NA
113449306
113456259
6954
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11810.s1
4.4
F
Control (matched sibling)
NA
NA
113748623
113753374
4752
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11946.s1
12.9
M
Control (matched sibling)
NA
NA
113449306
113456259
6954
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12106.s1
10.9
F
Control (matched sibling)
NA
NA
113449306
113456259
6954
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12225.s1
16.4
M
Control (matched sibling)
NA
NA
114418217
114456782
38566
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
113567027
113567325
299
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12363.s1
21.9
M
Control (matched sibling)
NA
NA
113567027
113567434
408
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12415.s1
16.2
F
Control (matched sibling)
NA
NA
113745876
113753374
7499
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12515.s1
4.2
M
Control (matched sibling)
NA
NA
113748623
113753374
4752
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12685.s1
12.8
F
Control (matched sibling)
NA
NA
113567027
113567434
408
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12723.s1
8.7
F
Control (matched sibling)
NA
NA
113748623
113753374
4752
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13010.s1
5.8
M
Control (matched sibling)
NA
NA
113748623
113753374
4752
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13053.s1
6.6
M
Control (matched sibling)
NA
NA
113745876
113755361
9486
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13303.s1
17.5
M
Control (matched sibling)
NA
NA
113567027
113567771
745
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-11303
Unknown
Simplex
NA
CCDC172
digregorio_17_DD/ID_discovery_cases-DECIPHER_300079
Maternal
GFRA1
engchuan_15_ASD_discovery_cases-case3125_4
Unknown
ATRNL1
engchuan_15_ASD_discovery_cases-case5454_3
Unknown
SNRPGP6,HMGB3P8,PNLIPRP3
girirajan_13b_ASD_discovery_cases-7407107791
Unknown
Unknown
Unknown
PPIAP19,TAF9BP2,FAM160B1,ABLIM1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000836
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAP19,TAF9BP2,RNU6-1121P,NTAN1P1,SNRPGP6,HMGB3P8,RNU6-1090P,PNLIPP1,C10orf82,RPL5P27,FAM160B1,RPL15P13,CCDC172,PNLIPRP3,PNLIP,PNLIPRP1,PNLIPRP2,ENO4,ABLIM1,TRUB1,GFRA1,HSPA12A,SHTN1,ATRNL1
pinto_10_ASD_discovery_cases-case5454_3
Agilent1M
maternal
NA
NA
SNRPGP6,HMGB3P8,PNLIPRP3
prasad_12_ASD_discovery_cases-case95458L
Unknown
Unknown
Unknown
SNRPGP6,HMGB3P8,PNLIPRP3
sanders_11_ASD_discovery_cases-11347.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11456.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PLEKHS1
sanders_11_ASD_discovery_cases-11471.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11693.p1
Unknown
Simplex (trio)
NA
PLEKHS1
sanders_11_ASD_discovery_cases-12033.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PLEKHS1
sanders_11_ASD_discovery_cases-12175.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12354.p1
Unknown
Simplex (trio)
NA
HABP2
sanders_11_ASD_discovery_cases-12485.p1
Both parents
Simplex (trio)
NA
PLEKHS1
sanders_11_ASD_discovery_cases-12723.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PLEKHS1
sanders_11_ASD_discovery_cases-12921.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HABP2
sanders_11_ASD_discovery_cases-13053.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PLEKHS1
sanders_11_ASD_discovery_cases-13088.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATRNL1
stark_10_ASD_discovery_cases-case1
aCGH (BACs aCGH), FISH
De novo
Simplex
Segregated
ATRNL1
vaags_11_ASD_discovery_cases-probandF2-003
Array SNP
Maternal
Multiplex
Possibly segregated (present in affected sister, status in unaffected brother unknown)
SNRPGP6,HMGB3P8,PNLIPRP3
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case3
MLPA
Maternal
Unknown
Multi-generational
Unknown
GFRA1
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF23a
De novo
Possibly segregated
ADRB1,NHLRC2
yin_16_ASD_discovery_cases-case395
Unknown
Unknown
Unknown
PDZD8
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB473026_1007872207
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902828_902828
Unknown
SHTN1
sanders_11_ASD_discovery_controls-11347.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11471.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11810.s1
Unknown
Simplex (quad)
NA
PLEKHS1
sanders_11_ASD_discovery_controls-11946.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12106.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12225.s1
Maternal
Simplex (quad)
NA
RN7SL384P,ABLIM1
sanders_11_ASD_discovery_controls-12361.s1
Unknown
Simplex (quad)
NA
HABP2
sanders_11_ASD_discovery_controls-12363.s1
Paternal
Simplex (quad)
NA
HABP2
sanders_11_ASD_discovery_controls-12415.s1
Unknown
Simplex (quad)
NA
PLEKHS1
sanders_11_ASD_discovery_controls-12515.s1
Unknown
Simplex (quad)
NA
PLEKHS1
sanders_11_ASD_discovery_controls-12685.s1
Unknown
Simplex (quad)
NA
HABP2
sanders_11_ASD_discovery_controls-12723.s1
Paternal
Simplex (quad)
NA
PLEKHS1
sanders_11_ASD_discovery_controls-13010.s1
Unknown
Simplex (quad)
NA
PLEKHS1
sanders_11_ASD_discovery_controls-13053.s1
Unknown
Simplex (quad)
NA
PLEKHS1
sanders_11_ASD_discovery_controls-13303.s1
Unknown
Simplex (quad)
NA
HABP2
No Animal Model Data Available