4p15.1CNV Type: Deletion-Duplication
Largest CNV size: 3216500 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead t...
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Global increases in both common and rare copy number load associated with autism.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
34841
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
122831
7
1
8
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
786614
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
27355
2
0
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
369934
0
3
3
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
852497
1
2
3
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
119464
3
0
3
laffin_12_CAS_discovery_cases
Participants recruited and consented for a study of pediatric motor speech disorders
24
Diagnosis of childhood apraxia of speech (CAS) assessed by Madison Speech Assessment Protocol.
Mean, 8.3 3.7 yrs.
66% Male
91228
0
1
1
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
800000
1
0
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
45701
1
0
1
makrythanasis_11_ID/ASD_discovery_cases
Second son of healthy consanguineous parents referred to Genetics Clinic (Geneva, Switzerland) due to psychomotor retardation
1
Intellectual disability/cognitive impairment, autistic-like features, deafness, & mild dysmorphism. No formal diagnosis of autism/ASD.
3 yrs.
Male
600000
2
0
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
71106
2
0
2
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
608714
35
2
37
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
49050
1
0
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
127000
1
0
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
238046
0
1
1
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
3216500
0
1
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
29678
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
316064
11
6
17
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
437378
0
1
1
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
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
65669
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)
71106
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.
156446
31
5
36
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
laffin_12_CAS_discovery_cases
NA
aCGH
Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
OGT CytoSure Interpret v.3.4.3
None
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
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
makrythanasis_11_ID/ASD_discovery_cases
Portuguese
aCGH
Agilent 244K
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
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
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
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
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
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
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
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
34784866
34819706
34841
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20039_1244001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35373531
35414993
41463
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21019_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35373531
35409009
35479
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21043_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35373531
35409009
35479
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3601_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30143198
30266029
122832
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5220_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28783174
28863569
80396
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5508_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35358112
35414993
56882
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8540_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35373531
35409009
35479
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case9657_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35373531
35409009
35479
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1171302
Autism
28002740
28789353
786614
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case528-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
34115045
34142400
27356
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case694-3
4 yrs.
M
ASD
ASD; no other clinical information provided
N/A
34656862
34683730
26869
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-19405103174
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
34666713
34969151
302439
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-60104102183
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
34431208
34801142
369935
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-60705104612
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
34431208
34801142
369935
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000123
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31865930
32718427
852498
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003998
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
32718368
33390760
672393
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004896
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
32718368
33390760
672393
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1490
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
33581520
33700983
119464
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case1491
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
33581520
33700983
119464
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case1492
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
33581520
33700983
119464
Unknown
Deletion
No
laffin_12_CAS_discovery_cases-case12
10-15 yrs.
NA
CAS
Years of apraxia treatment: 10. Familial status: positive (one or more nuclear family members with a verbal trait disorder including speech disorder, language disorder, reading disorder, cognitive disability, or learning disability). Language impairment: none. Motor impairment: none.
No cognitive impairment
34056741
34147969
91229
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1171302
N/A
M
ASD
28392378
29178378
786001
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
34777403
34823103
45701
GRCh38
Deletion
No
makrythanasis_11_ID/ASD_discovery_cases-case1
3 yrs.
M
Intellectual disability + autistic traits
Birth/neonatal history: uneventful pregnancy; normal neonatal adaptation; postaxial polydactyly of left foot diagnosed at birth; supernumerary toe removed at 7 months; small atrial septal defect diagnosed shortly after birth (spontaneously closed). Developmental milestones: normal development during 1st year (unsupported sitting at 6-7 months, 1st words & steps at 12 months); stagnated motor development by 3 yrs.; developmental age equivalent of 18 months. No formal diagnosis of autism, but patient displayed autistic-like features (stereotypies of the hands, brief attention span, poor eye contact). Behavioral characteristics: stubborn & hyperactive, frequent temper tantrums, panic-like attacks in crowded environments. Hearing test revealed bilateral neurosensory deafness measured at 50-80 dB, hearing aids implemented. Normal vision. EEG and brain CT: no obvious abnormalities. Dysmorphic features: upsweep of frontal hair, puffy eyelids, broad nasal base, small nose, smooth philtrum, full lips, small chin, hypoplastic nipples, partial bilateral skin syndactyly of toes 2-3. Growth parameters: height, 101.5 cm (90th %ile); weight, 15.2 kg (75th %ile); head circumference, 50.6 cm (50th %ile). Family history: healthy consanguineous parents (heterozygous for 4p15.1 deletion); unaffected brother with two normal alleles.
Intellectual disability/cognitive impairment
33874983
34480983
606001
GRCh38
Homozygous deletion
No
prasad_12_ASD_discovery_cases-case68711
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
33900800
33948779
47980
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case94755
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
28398084
28469189
71106
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11027.p1
9.3
M
ASD
NA
Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
33376055
33381287
5233
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
34893185
34908430
15246
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11133.p1
17
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
32311765
32315041
3277
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11154.p1
12.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 86; verbal IQ, 102
35373531
35409009
35479
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
33376610
33384746
8137
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11241.p1
12
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 77; verbal IQ, 80
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11300.p1
10.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11310.p1
11
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 97; verbal IQ, 63
35373531
35409009
35479
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11310.p1
11
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 97; verbal IQ, 63
28829017
28837204
8188
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11318.p1
8
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 113; verbal IQ, 116
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11360.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
29289964
29295223
5260
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11375.p1
6.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 115; verbal IQ, 93
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11468.p1
10.7
M
Aspergers
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11519.p1
6.7
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 84; verbal IQ, 23
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11551.p1
15.5
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11782.p1
5.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
33376610
33384746
8137
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11860.p1
6
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
33376610
33384746
8137
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11938.p1
4.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
31807078
31810133
3056
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
33376055
33391469
15415
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12210.p1
16.3
M
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
34222536
34282630
60095
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12215.p1
4.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 113; verbal IQ, 96
32945687
33554401
608715
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12341.p1
13.8
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 114
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12382.p1
10.1
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 94; verbal IQ, 88
32459955
32475651
15697
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
33376055
33384746
8692
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12566.p1
10.4
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 43
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12651.p1
10.8
M
Autism
NA
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12653.p1
11
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 69; verbal IQ, 97
29300775
29305125
4351
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12785.p1
7.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
33376055
33384746
8692
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12790.p1
7.9
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
35373531
35409009
35479
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12964.p1
6.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
33374691
33391469
16779
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13045.p1
11.1
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 38; verbal IQ, 35
33845428
34055962
210535
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
33376055
33391469
15415
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13097.p1
9.9
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
33370299
33384746
14448
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
33376055
33384746
8692
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
34779431
34828480
49050
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseSAI31
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
28737541
28864822
127282
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family64_Twin_1
N/A
N/A
ASD/NDD
Case is from a dizygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
32627262
32865307
238046
GRCh38
Duplication
No
szatmari_07_ASD_discovery_cases-NAAR054-G12-POS
NA
ASD
NA
NA
28344109
31560609
3216501
GRCh38
Duplication
Yes
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
34791730
34821407
29678
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-control110036005619_
N/A
N/A
Control
No previous psychiatric history
35263195
35428089
164895
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB681968_1007853271
N/A
N/A
Control
No previous psychiatric history
31810133
31893464
83332
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB701762_1007873488
N/A
N/A
Control
No previous psychiatric history
34033685
34349749
316065
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900090_900090
N/A
N/A
Control
No previous psychiatric history
35373531
35409009
35479
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900267_900267
N/A
N/A
Control
No previous psychiatric history
34586491
34764941
178451
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900350_900350
N/A
N/A
Control
No previous psychiatric history
35372544
35409009
36466
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900592_900592
N/A
N/A
Control
No previous psychiatric history
35675287
35713865
38579
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900768_900768
N/A
N/A
Control
No previous psychiatric history
28793591
28846859
53269
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900786_900786
N/A
N/A
Control
No previous psychiatric history
35373531
35409009
35479
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900911_900911
N/A
N/A
Control
No previous psychiatric history
35158532
35309384
150853
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901067_901067
N/A
N/A
Control
No previous psychiatric history
35373531
35409009
35479
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901087_901087
N/A
N/A
Control
No previous psychiatric history
31847601
31935842
88242
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902424_902424
N/A
N/A
Control
No previous psychiatric history
35373531
35414993
41463
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902657_902657
N/A
N/A
Control
No previous psychiatric history
35373531
35409009
35479
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902691_902691
N/A
N/A
Control
No previous psychiatric history
33923826
33998833
75008
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902724_902724
N/A
N/A
Control
No previous psychiatric history
35373531
35409009
35479
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902771_902771
N/A
N/A
Control
No previous psychiatric history
34053225
34220285
167061
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-3106105582
N/A
N/A
Control
Ethnicity: Hispanic
N/A
34498543
34935921
437379
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split594
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
28799523
28865191
65669
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split669
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
28799523
28865191
65669
Unknown
Duplication
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
33376610
33381287
4678
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11108.s1
10.3
M
Control (matched sibling)
NA
NA
35148038
35154797
6760
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11141.s1
5.2
F
Control (matched sibling)
NA
NA
31557757
31714203
156447
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11212.s1
19.2
F
Control (matched sibling)
NA
NA
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11214.s1
17.2
F
Control (matched sibling)
NA
NA
34487966
34514415
26450
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11263.s1
15.9
F
Control (matched sibling)
NA
NA
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11300.s1
8
M
Control (matched sibling)
NA
NA
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11310.s1
9.5
F
Control (matched sibling)
NA
NA
35373531
35414993
41463
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11310.s1
9.5
F
Control (matched sibling)
NA
NA
28829017
28837204
8188
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11349.s1
8.6
M
Control (matched sibling)
NA
NA
34844585
34846782
2198
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11375.s1
4.6
F
Control (matched sibling)
NA
NA
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11447.s1
8.4
F
Control (matched sibling)
NA
NA
33376610
33381287
4678
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11475.s1
5.5
F
Control (matched sibling)
NA
NA
33376610
33381287
4678
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11524.s1
17.3
M
Control (matched sibling)
NA
NA
29336594
29346143
9550
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11530.s1
9.4
F
Control (matched sibling)
NA
NA
33772700
33788624
15925
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11537.s1
10.3
F
Control (matched sibling)
NA
NA
31421871
31435684
13814
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
33376610
33381287
4678
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11653.s1
5
M
Control (matched sibling)
NA
NA
34065590
34213494
147905
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11860.s1
14.1
M
Control (matched sibling)
NA
NA
33376610
33384746
8137
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12121.s1
6.5
F
Control (matched sibling)
NA
NA
33923826
33983336
59511
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
28942603
28947128
4526
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12189.s1
6.7
F
Control (matched sibling)
NA
NA
33370299
33384746
14448
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12201.s1
12.1
M
Control (matched sibling)
NA
NA
33376610
33384746
8137
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12334.s1
4.2
M
Control (matched sibling)
NA
NA
32732752
32744375
11624
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12363.s1
21.9
M
Control (matched sibling)
NA
NA
34898743
34912511
13769
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12382.s1
12.4
M
Control (matched sibling)
NA
NA
32467802
32475651
7850
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12383.s1
12.8
M
Control (matched sibling)
NA
NA
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12415.s1
16.2
F
Control (matched sibling)
NA
NA
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12653.s1
8.5
F
Control (matched sibling)
NA
NA
29300775
29305125
4351
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12836.s1
4.2
M
Control (matched sibling)
NA
NA
29300775
29305125
4351
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12859.s1
6.6
M
Control (matched sibling)
NA
NA
35148038
35149615
1578
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12937.s1
18.9
M
Control (matched sibling)
NA
NA
35373531
35409009
35479
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
33376055
33384746
8692
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13097.s1
12.4
F
Control (matched sibling)
NA
NA
33376055
33384746
8692
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
33376055
33384746
8692
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chung_11_ASD_discovery_cases-proband
Both parents
Simplex
NA
engchuan_15_ASD_discovery_cases-case20039_1244001
Unknown
engchuan_15_ASD_discovery_cases-case21019_1
Unknown
engchuan_15_ASD_discovery_cases-case21043_1
Unknown
engchuan_15_ASD_discovery_cases-case3601_3
Unknown
engchuan_15_ASD_discovery_cases-case5220_3
Unknown
MIR4275,MESTP3
engchuan_15_ASD_discovery_cases-case5508_3
Unknown
engchuan_15_ASD_discovery_cases-case8540_201
Unknown
engchuan_15_ASD_discovery_cases-case9657_201
Unknown
gai_11_ASD_discovery_cases-AU1171302
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case528-3
Unknown
Unknown
Unknown
LINC02484
gazzellone_14_ASD_discovery_cases-case694-3
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-19405103174
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-60104102183
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-60705104612
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000123
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02353,LINC02506
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003998
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004896
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kanduri_15_ASD_discovery_cases-case1490
Maternal
Unknown
Unknown
Intergenic CNV (no nearby genes)
kanduri_15_ASD_discovery_cases-case1491
Maternal
Unknown
Unknown
Intergenic CNV (no nearby genes)
kanduri_15_ASD_discovery_cases-case1492
Maternal
Unknown
Unknown
Intergenic CNV (no nearby genes)
laffin_12_CAS_discovery_cases-case12
Unknown
Multiplex
Unknown
LINC02484
leppa_16_ASD_discovery_cases-AU1171302
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
RN7SL101P,MIR4275,MESTP3,LINC02364
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
makrythanasis_11_ID/ASD_discovery_cases-case1
Both parents
Simplex
Homozygous deletion segregates with disease
LINC02484
prasad_12_ASD_discovery_cases-case68711
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case94755
Unknown
Unknown
Unknown
MIR4275
sanders_11_ASD_discovery_cases-11027.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11041.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11108.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11133.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11154.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11158.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11241.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11300.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11310.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11310.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11318.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11360.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11375.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11468.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11519.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11551.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11782.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11818.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11860.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11938.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12102.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12210.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02484
sanders_11_ASD_discovery_cases-12215.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12341.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12382.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12424.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12566.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12651.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12653.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12785.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12790.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12964.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13045.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13065.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13097.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
soueid_16_ASD_discovery_cases-caseSAI31
Maternal
Simplex
MIR4275,MESTP3
stamouli_18_ASD/NDD_discovery_cases-family64_Twin_1
Unknown
Multiplex
Not segregated (CNV not present in affected twin)
szatmari_07_ASD_discovery_cases-NAAR054-G12-POS
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RN7SL101P,MIR4275,MESTP3,LINC02472,EEF1A1P21,RPS3AP17,MTCYBP43,LINC02364,LINC02501,PCDH7,LINC02497
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036005619_
Unknown
engchuan_15_ASD_discovery_controls-controlB681968_1007853271
Unknown
engchuan_15_ASD_discovery_controls-controlB701762_1007873488
Unknown
LINC02484
engchuan_15_ASD_discovery_controls-controlHABC_900090_900090
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900267_900267
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900350_900350
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900592_900592
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900768_900768
Unknown
MIR4275,MESTP3
engchuan_15_ASD_discovery_controls-controlHABC_900786_900786
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900911_900911
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901067_901067
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901087_901087
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902424_902424
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902657_902657
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902691_902691
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902724_902724
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902771_902771
Unknown
LINC02484
girirajan_13b_ASD_discovery_controls-3106105582
Unknown
kanduri_15_ASD_discovery_controls-control_split594
Unknown
MIR4275 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split669
Unknown
MIR4275 (non-coding RNA, exonic)
sanders_11_ASD_discovery_controls-11041.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11108.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11141.s1
Maternal
Simplex (quad)
NA
LINC02501
sanders_11_ASD_discovery_controls-11212.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11214.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11263.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11300.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11310.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11310.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11318.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11349.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11375.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11447.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11475.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11524.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11530.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11537.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11549.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11653.s1
Maternal
Simplex (quad)
NA
LINC02484
sanders_11_ASD_discovery_controls-11860.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12121.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12184.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12189.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12201.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12334.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12363.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12382.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12383.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12415.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12653.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12836.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12859.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12937.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12964.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13097.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13296.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available