4p14CNV Type: Deletion-Duplication
Largest CNV size: 263814 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
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex 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.
Duplication
Distal 22q11.2 Microduplication: Case Report and Review of the Literature.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
259000
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
263813
3
6
9
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
30774
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
30441
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
745001
0
2
2
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
179256
0
1
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
15826
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
138254
0
2
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
145981
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
239546
0
1
1
mosrati_12_ASD/MR_discovery_cases
Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.
3
Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)
Range, 22-31 yrs.
66.67% Male
182510
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
52000
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
211077
0
1
1
pinchefsky_17_DD_discovery_cases
3-year-old female born to healthy non-consanguineous parents with two healthy developmentally normal siblings
1
Case presented with global developmental delay, autistic features, and sensorineural hearing loss
3 years
Female
251000
0
1
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
263814
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
262960
2
1
3
qiao_12_ASD/ID_discovery_cases
Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
52
ASD and/or ID (intellectual disability)
NA
NA
707000
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
146112
36
2
38
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
1477279
3
11
14
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
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
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
11330
1
0
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
15826
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
25566
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
145981
0
2
2
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
81435
0
1
1
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)
25570
0
1
1
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)
262960
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.
146112
23
2
25
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
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
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
mosrati_12_ASD/MR_discovery_cases
Tunisian
Solid phase hybridization
Illumina HumanCyto12v2.0 BeadChip
QuantiSNP, PennCNV, VanillaICE
BeadStudio V3.3
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pinchefsky_17_DD_discovery_cases
Moroccan
aCGH
NimbleGen CGX-12
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
qiao_12_ASD/ID_discovery_cases
Canadian
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.1
QMPSF
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
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_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
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
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
digregorio_17_DD/ID_discovery_cases-DECIPHER_300139
N/A
M
Developmental delay/intellectual disability
38856474
39115721
259248
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13084_983
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40681959
40778347
96389
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14185_3040
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35922367
35978049
55683
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14259_3820
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37526871
37558132
31262
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14367_4800
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35922367
35975116
52750
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21035_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39755009
39812444
57436
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3177_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40679353
40778347
98995
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5217_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40681959
40778347
96389
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5408_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38285712
38549525
263814
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8571_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39425189
39571301
146113
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case556-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
38797233
38828007
30775
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-14059.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
38797437
38827878
30442
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001170
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
39571714
40297938
726225
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004653
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
38015168
38397834
382667
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case2973
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.
35873240
36052495
179256
Unknown
Duplication
No
krumm_13_ASD_discovery_cases-case11075.p1
N/A
M
ASD
ASD proband from SSC quad family 11075. SRS score of 67.
Full-scale IQ (FSIQ) score of 39.
40760433
40776259
15827
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11075.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
40750693
40776259
25567
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12381.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
39434209
39572463
138255
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-12381.p1
NA
M
ASD
NA
NA
39425083
39571063
145981
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0129-000
NA
M
ASD
NA
NA
38285712
38525257
239546
GRCh38
Duplication
Yes
mosrati_12_ASD/MR_discovery_cases-caseV5
26 yrs.
M
Autistic traits
Behavioral and psychiatric evaluation: autistic traits reminiscent of Asperger syndrome. Language and communication evaluation: no oral speech; able to have coherent hand-sign conservation with mother and unaffected brother. Visual and auditory evaluation: moderate hearing loss. Family history: consanguineous parents; brother with autistic traits, mental retardation, and hearing loss; sister with mental retardation and hearing loss (no autistic traits).
No mental retardation
40110881
40293391
182510
Unknown
Deletion
No
nava_13_ASD_discovery_cases-Fam1057Proband9942
N/A
F
ASD
Additional clinical profile info N/A
ID
39758855
39810627
51773
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-239-1
ASD
39402832
39613908
211077
Unknown
Duplication
No
pinchefsky_17_DD_discovery_cases-case1
3 yrs.
F
Developmental delay and autistic features
Birth/neonatal history: product of an unremarkable pregnancy; delivery was spontaneous, vaginal, and uncomplicated; birth weight of 3955 g (98th %ile), height of 52 cm (90th %ile), and head circumference of 36 cm (97th %ile). Developmental milestones: global developmental delay; walked at appropriate age of 12 months; severe receptive and expressive language delay, with some signs of language regression noted at 30 months (acquired approximately 10 words between ages of 12 and 20 months, which were subsequently lost); significant delay in gross and fine motor development noted on formal developmental assessment at 22 months of age (1st %ile for age using Peabody Developmental Motor Scales); could not go down stairs, jump, or kick a ball at 39 months. Language and communication evaluation: absent speech (currently no word output, but can understand simple instruction). Motor and musculoskeletal evaluation: increased tone in lower extremities with tight heel cords; toe walking; brisk deep tendon reflexes; wore articulated ankle-foot orthoses. Behavioral/psychiatric evaluation: autistic features (inconsistent eye contact, does not point to her wants, prefers to play on her own but will interact with others if prompted, does not engage in pretend play); hyperactivity; difficult behavior; occasional tantrums; bruxism. Epilepsy/seizures: developed febrile seizures at 9 months of age, then afebrile generalized seizures that were well-controlled on clobazam. EEG: mild-to-moderate disturbance of cerebral activity in the form of paroxysmal activity. Brain imaging: delayed myelination bilaterally on brain MRI at 3 years of age. Auditory evaluation: bilateral mild-to-moderate sensorineural hearing loss noted at 23 months of age. Dysmorphic features: thin upper lip, slightly long and well-defined philtrum, mild retromicrognathia, bulbous nose, arched eyebrows. Growth parameters: weight of 18.3 kg (90th %ile), height of 87 cm (2nd %ile), and head circumference of 48.5 cm (25th %ile) at 3 years of age. Family history: born to healthy, non-consanguineous parents of Moroccan origin; 2 healthy developmentally normal siblings.
Global developmental delay
38869645
39120560
250916
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5408_3
NA
M
ASD
NA
NA
38285712
38549525
263814
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case154263L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
39636886
39650266
13381
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60539L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
38117668
38132457
14790
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case77405L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
37964567
38227526
262960
Unknown
Duplication
No
qiao_12_ASD_discovery_cases-case10-108A
17 yrs. 10 mos.
M
ASD
Significant speech delay and fine motor delay, epilepsy, coarse facial features, flattened nasal root, ptosis, low set and posteriorly angulated ears with unilateral over-folding helix, micrognathia, and mid-facial/malar hypoplasia. prominent lips, carious and crowded teeth, coarse hair, unusual flexion and fisted posturing of his hands, unusual hand movements, prominent arachnodactyly with tapering of the distal phalanges, bilateral equinovarus, coxa valga, significantly thin body profile, normal height and OFC, mildly abnormal EEG (no epileptiform foci). Normal cranial MRI, opthalmology and audiology assessments.
Moderate intellectual disability
38443464
39150388
707000
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11064.p1
8.1
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 129; verbal IQ, 86
39707188
39714520
7333
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11075.p1
6.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 54; verbal IQ, 24
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11075.p1
6.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 54; verbal IQ, 24
40679353
40778347
98995
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11160.p1
6.9
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 119; verbal IQ, 99
39707188
39711514
4327
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11232.p1
8.7
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
39700469
39714520
14052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11316.p1
11.7
F
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 45; verbal IQ, 21
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11343.p1
8.3
M
ASD
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
40752137
40760400
8264
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11399.p1
11.9
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 100
40251681
40258759
7079
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11462.p1
7.8
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 117; verbal IQ, 121
36914276
36930261
15986
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11490.p1
11.4
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 101; verbal IQ, 57
36914276
36930261
15986
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11498.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 102; verbal IQ, 110
39707188
39714520
7333
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11530.p1
8.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 88
36914276
36930261
15986
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
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11841.p1
10.4
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
36914276
36935425
21150
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11855.p1
14.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
36914276
36935425
21150
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11909.p1
5.7
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11970.p1
5.3
M
Autism
NA
Full-scale IQ, 150; non-verbal IQ, 159; verbal IQ, 130
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11972.p1
8.5
F
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
36914276
36935425
21150
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11984.p1
5
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 88
40594422
40612048
17627
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12048.p1
7.2
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12103.p1
6.6
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
36914276
36935425
21150
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12114.p1
16.7
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 85; verbal IQ, 123
37162329
37181024
18696
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12153.p1
11.1
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ,66 ; verbal IQ, 51
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
39708327
39711514
3188
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12350.p1
11.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12381.p1
6.2
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 64; verbal IQ, 79
39425189
39571301
146113
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12429.p1
4.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
39707188
39712123
4936
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
40471767
40507504
35738
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12736.p1
4.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 111; verbal IQ, 86
36914276
36935425
21150
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12938.p1
15.3
M
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 36; verbal IQ, 21
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12941.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 96
38456999
38464035
7037
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12946.p1
10.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 106
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13051.p1
6.9
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 104
39707188
39712123
4936
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
38456999
38464035
7037
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13080.p1
8.3
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 104; verbal IQ, 121
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13082.p1
6
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 67; verbal IQ, 61
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13136.p1
6.5
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
38456999
38464035
7037
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13251.p1
7.7
F
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
38456999
38464035
7037
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-control110036022341_
N/A
N/A
Control
No previous psychiatric history
40618835
40650493
31659
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB264851_1007876013
N/A
N/A
Control
No previous psychiatric history
38739173
38790903
51731
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB308284_1007874263
N/A
N/A
Control
No previous psychiatric history
38423892
39901172
1477281
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB546105_1007840953
N/A
N/A
Control
No previous psychiatric history
40253791
40285776
31986
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB695562_0067942649
N/A
N/A
Control
No previous psychiatric history
40675445
40778347
102903
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB776367_1007875364
N/A
N/A
Control
No previous psychiatric history
38463850
38539309
75460
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB787931_1007853911
N/A
N/A
Control
No previous psychiatric history
36389259
36489193
99935
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
N/A
N/A
Control
No previous psychiatric history
40679353
40778347
98995
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900042_900042
N/A
N/A
Control
No previous psychiatric history
40679353
40778347
98995
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900447_900447
N/A
N/A
Control
No previous psychiatric history
40685217
40778347
93131
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900953_900953
N/A
N/A
Control
No previous psychiatric history
40679353
40778347
98995
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901096_901096
N/A
N/A
Control
No previous psychiatric history
40679353
40778347
98995
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902831_902831
N/A
N/A
Control
No previous psychiatric history
40679353
40778347
98995
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902883_902883
N/A
N/A
Control
No previous psychiatric history
38463850
38537676
73827
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1501
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
35995064
36006393
11330
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11075.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11075. SRS score of 36.
40760433
40776259
15827
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11075.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
40750693
40776259
25567
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11075.s1
NA
M
Control
NA
NA
40679341
40778860
99520
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12381.s1
NA
F
Control
NA
NA
39425083
39571063
145981
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C28240
Control
37905102
37986536
81435
Unknown
Duplication
poultney_13_ASD_discovery_controls-control04C30190A
N/A
M
Control
NIMH Control (NIMH ID 54326)
40750692
40776261
25570
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11012.s1
6.7
F
Control (matched sibling)
NA
NA
39708327
39712123
3797
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11064.s1
10
F
Control (matched sibling)
NA
NA
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11075.s1
9.9
M
Control (matched sibling)
NA
NA
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11075.s1
9.9
M
Control (matched sibling)
NA
NA
40679353
40778347
98995
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11118.s1
13.4
M
Control (matched sibling)
NA
NA
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11333.s1
6.9
M
Control (matched sibling)
NA
NA
39708327
39711514
3188
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11366.s1
10.8
M
Control (matched sibling)
NA
NA
39707188
39711514
4327
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11399.s1
13.3
M
Control (matched sibling)
NA
NA
40251681
40258759
7079
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11410.s1
11.3
F
Control (matched sibling)
NA
NA
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11530.s1
9.4
F
Control (matched sibling)
NA
NA
36914276
36930261
15986
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
36914276
36946729
32454
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11809.s1
8.4
F
Control (matched sibling)
NA
NA
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11894.s1
4.2
M
Control (matched sibling)
NA
NA
36914276
36935425
21150
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11972.s1
5.2
F
Control (matched sibling)
NA
NA
36914276
36935425
21150
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11984.s1
7.7
F
Control (matched sibling)
NA
NA
40594422
40612048
17627
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12153.s1
16.5
F
Control (matched sibling)
NA
NA
39708327
39712123
3797
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12356.s1
7.8
F
Control (matched sibling)
NA
NA
36914276
36935425
21150
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12381.s1
7.5
F
Control (matched sibling)
NA
NA
39425189
39571301
146113
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13051.s1
9.4
F
Control (matched sibling)
NA
NA
39708327
39712123
3797
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13053.s1
6.6
M
Control (matched sibling)
NA
NA
38456999
38464035
7037
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13080.s1
6.8
F
Control (matched sibling)
NA
NA
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13082.s1
4
M
Control (matched sibling)
NA
NA
39707188
39712123
4936
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13144.s1
4.9
M
Control (matched sibling)
NA
NA
39708327
39712123
3797
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13251.s1
6.3
F
Control (matched sibling)
NA
NA
38456999
38464035
7037
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13322.s1
14.3
F
Control (matched sibling)
NA
NA
39707188
39712123
4936
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
digregorio_17_DD/ID_discovery_cases-DECIPHER_300139
Unknown
MIR574,TLR6,TMEM156,FAM114A1,KLHL5,TLR1
engchuan_15_ASD_discovery_cases-case13084_983
Unknown
NSUN7
engchuan_15_ASD_discovery_cases-case14185_3040
Unknown
ARAP2
engchuan_15_ASD_discovery_cases-case14259_3820
Unknown
C4orf19
engchuan_15_ASD_discovery_cases-case14367_4800
Unknown
ARAP2
engchuan_15_ASD_discovery_cases-case21035_1
Unknown
RN7SL558P,ZBTB12BP,UBE2K
engchuan_15_ASD_discovery_cases-case3177_6
Unknown
NSUN7
engchuan_15_ASD_discovery_cases-case5217_3
Unknown
NSUN7
engchuan_15_ASD_discovery_cases-case5408_3
Unknown
LINC01259,LINC02513,LINC01258
engchuan_15_ASD_discovery_cases-case8571_201
Unknown
KLB,LIAS,UGDH,RPL9,UGDH-AS1,SMIM14
gazzellone_14_ASD_discovery_cases-case556-3
Unknown
Unknown
Unknown
TLR6,TLR1
girirajan_13a_ASD_discovery_cases-14059.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
TLR6,TLR1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001170
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU7-11P,RN7SL558P,ZBTB12BP,ELOCP33,RNA5SP159,PABPC1P1,KRT18P25,RNU6-1112P,UGDH-AS1,SMIM14,UBE2K,N4BP2,RHOH,PDS5A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004653
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02513,TBC1D1
kanduri_15_ASD_discovery_cases-case2973
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, ARAP2 (dist=15125)
krumm_13_ASD_discovery_cases-case11075.p1
Maternal
Simplex
Not segregated
NSUN7
krumm_15_ASD_discovery_cases-case11075.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
NSUN7
krumm_15_ASD_discovery_cases-case12381.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
KLB,LIAS,UGDH,RPL9,UGDH-AS1,SMIM14
levy_11_ASD_discovery_cases-12381.p1
Maternal
Simplex
Not segregated
KLB,LIAS,UGDH,RPL9,UGDH-AS1,SMIM14
marshall_08_ASD_discovery_cases-NA0129-000
qPCR, qmPCR
Unknown
NA
NA
LINC01259,LINC02513,LINC01258
mosrati_12_ASD/MR_discovery_cases-caseV5
Unknown
Multiplex
Unknown
RBM47
nava_13_ASD_discovery_cases-Fam1057Proband9942
Maternal
Simplex
Unknown
RN7SL558P,ZBTB12BP,UBE2K
nord_11_ASD_discovery_cases-239-1
Paternal
PDS5A,UBE2K
pinchefsky_17_DD_discovery_cases-case1
Paternal
Simplex
Not segregated
TMEM156,FAM114A1,KLHL5
pinto_10_ASD_discovery_cases-case5408_3
Agilent1M
maternal
NA
NA
LINC01259,LINC02513,LINC01258
prasad_12_ASD_discovery_cases-case154263L
Unknown
Unknown
Unknown
PDS5A
prasad_12_ASD_discovery_cases-case60539L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case77405L
Unknown
Unknown
Unknown
0 genes
qiao_12_ASD_discovery_cases-case10-108A
QMPSF
De novo
Simplex
Likely segregated
TLR10,TLR1,TLR6,FAM114A1,TMEM156,KLHL5,WDR19,RFC1,KLB,RPL9,LIAS
sanders_11_ASD_discovery_cases-11064.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UBE2K
sanders_11_ASD_discovery_cases-11075.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UBE2K
sanders_11_ASD_discovery_cases-11075.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NSUN7
sanders_11_ASD_discovery_cases-11160.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UBE2K
sanders_11_ASD_discovery_cases-11232.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
UBE2K
sanders_11_ASD_discovery_cases-11316.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UBE2K
sanders_11_ASD_discovery_cases-11343.p1
Maternal
Simplex (trio)
NA
NSUN7
sanders_11_ASD_discovery_cases-11399.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11462.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11490.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11498.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UBE2K
sanders_11_ASD_discovery_cases-11530.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11693.p1
Maternal
Simplex (trio)
NA
UBE2K
sanders_11_ASD_discovery_cases-11841.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11855.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11909.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UBE2K
sanders_11_ASD_discovery_cases-11970.p1
Paternal
Simplex (trio)
NA
UBE2K
sanders_11_ASD_discovery_cases-11972.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11984.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RBM47
sanders_11_ASD_discovery_cases-12048.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UBE2K
sanders_11_ASD_discovery_cases-12103.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12114.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12153.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UBE2K
sanders_11_ASD_discovery_cases-12158.p1
Paternal
Simplex (trio)
NA
UBE2K
sanders_11_ASD_discovery_cases-12350.p1
Paternal
Simplex (trio)
NA
UBE2K
sanders_11_ASD_discovery_cases-12381.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KLB,LIAS,UGDH,RPL9,UGDH-AS1,SMIM14
sanders_11_ASD_discovery_cases-12429.p1
Paternal
Simplex (trio)
NA
UBE2K
sanders_11_ASD_discovery_cases-12485.p1
Maternal
Simplex (trio)
NA
MIR4802,RBM47
sanders_11_ASD_discovery_cases-12736.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12938.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UBE2K
sanders_11_ASD_discovery_cases-12941.p1
Maternal
Simplex (trio)
NA
LINC01258
sanders_11_ASD_discovery_cases-12946.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
UBE2K
sanders_11_ASD_discovery_cases-13051.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UBE2K
sanders_11_ASD_discovery_cases-13053.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01258
sanders_11_ASD_discovery_cases-13080.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UBE2K
sanders_11_ASD_discovery_cases-13082.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UBE2K
sanders_11_ASD_discovery_cases-13136.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01258
sanders_11_ASD_discovery_cases-13251.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01258
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036022341_
Unknown
RBM47
engchuan_15_ASD_discovery_controls-controlB264851_1007876013
Unknown
RNA5SP158,TLR10,TLR1
engchuan_15_ASD_discovery_controls-controlB308284_1007874263
Unknown
LINC01259,RNA5SP158,MIR574,RNU6-32P,RNU6-887P,MIR5591,RNU7-11P,RN7SL558P,ZBTB12BP,LINC01258,LINC02278,KLF3-AS1,TLR10,TLR6,TMEM156,KLB,LIAS,UGDH,KLF3,FAM114A1,KLHL5,WDR19,RFC1,RPL9,UGDH-AS1,SMIM14,UBE2K,TLR1,PDS5A
engchuan_15_ASD_discovery_controls-controlB546105_1007840953
Unknown
engchuan_15_ASD_discovery_controls-controlB695562_0067942649
Unknown
NSUN7
engchuan_15_ASD_discovery_controls-controlB776367_1007875364
Unknown
LINC01259,LINC01258
engchuan_15_ASD_discovery_controls-controlB787931_1007853911
Unknown
MIR1255B1
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
Unknown
NSUN7
engchuan_15_ASD_discovery_controls-controlHABC_900042_900042
Unknown
NSUN7
engchuan_15_ASD_discovery_controls-controlHABC_900447_900447
Unknown
NSUN7
engchuan_15_ASD_discovery_controls-controlHABC_900953_900953
Unknown
NSUN7
engchuan_15_ASD_discovery_controls-controlHABC_901096_901096
Unknown
NSUN7
engchuan_15_ASD_discovery_controls-controlHABC_902831_902831
Unknown
NSUN7
engchuan_15_ASD_discovery_controls-controlHABC_902883_902883
Unknown
LINC01259,LINC01258
kanduri_15_ASD_discovery_controls-control_split1501
Unknown
Intergenic CNV: nearest genes, ARAP2(dist=61227)
krumm_13_ASD_discovery_controls-control11075.s1
Maternal
Simplex
NSUN7
krumm_15_ASD_discovery_controls-control11075.s1
Illumina 1M
Maternal
NSUN7
levy_11_ASD_discovery_controls-11075.s1
Maternal
Simplex
NA
NSUN7
levy_11_ASD_discovery_controls-12381.s1
Maternal
Simplex
NA
KLB,LIAS,UGDH,RPL9,UGDH-AS1,SMIM14
nord_11_ASD_discovery_controls-04C28240
0 genes
poultney_13_ASD_discovery_controls-control04C30190A
Unknown
NSUN7
sanders_11_ASD_discovery_controls-11012.s1
Maternal
Simplex (quad)
NA
UBE2K
sanders_11_ASD_discovery_controls-11064.s1
Paternal
Simplex (quad)
NA
UBE2K
sanders_11_ASD_discovery_controls-11075.s1
Paternal
Simplex (quad)
NA
UBE2K
sanders_11_ASD_discovery_controls-11075.s1
Maternal
Simplex (quad)
NA
NSUN7
sanders_11_ASD_discovery_controls-11118.s1
Maternal
Simplex (quad)
NA
UBE2K
sanders_11_ASD_discovery_controls-11333.s1
Paternal
Simplex (quad)
NA
UBE2K
sanders_11_ASD_discovery_controls-11366.s1
Maternal
Simplex (quad)
NA
UBE2K
sanders_11_ASD_discovery_controls-11399.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11410.s1
Paternal
Simplex (quad)
NA
UBE2K
sanders_11_ASD_discovery_controls-11530.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11798.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11809.s1
Maternal
Simplex (quad)
NA
UBE2K
sanders_11_ASD_discovery_controls-11894.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11972.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11984.s1
Maternal
Simplex (quad)
NA
RBM47
sanders_11_ASD_discovery_controls-12153.s1
Maternal
Simplex (quad)
NA
UBE2K
sanders_11_ASD_discovery_controls-12356.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12381.s1
Maternal
Simplex (quad)
NA
KLB,LIAS,UGDH,RPL9,UGDH-AS1,SMIM14
sanders_11_ASD_discovery_controls-13051.s1
Maternal
Simplex (quad)
NA
UBE2K
sanders_11_ASD_discovery_controls-13053.s1
Maternal
Simplex (quad)
NA
LINC01258
sanders_11_ASD_discovery_controls-13080.s1
Maternal
Simplex (quad)
NA
UBE2K
sanders_11_ASD_discovery_controls-13082.s1
Maternal
Simplex (quad)
NA
UBE2K
sanders_11_ASD_discovery_controls-13144.s1
Maternal
Simplex (quad)
NA
UBE2K
sanders_11_ASD_discovery_controls-13251.s1
Maternal
Simplex (quad)
NA
LINC01258
sanders_11_ASD_discovery_controls-13322.s1
Maternal
Simplex (quad)
NA
UBE2K
No Animal Model Data Available