5q14.3CNV Type: Deletion-Duplication
Largest CNV size: 727032 bp
Statistics Box:
Number of Reports: 21
Number of Reports: 21
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...
Deletion-Duplication
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
Deletion
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
2046000
0
1
1
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
260000
10
0
10
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
1300000
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
917339
6
5
11
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
5593541
7
1
8
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
61239
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
15223
0
1
1
levchenko_22_DD/ID_discovery_cases
Individuals with non-specific intellectual developmental disorder from the Research Centre for Medical Genetics consulted from 2017 to 2020.
198
Cases presented with non-specific intellectual developmental delay (DD/ID).
Range, 6 mos.-65 yrs.
63.63% Male
623529
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
76560
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
727032
0
1
1
mikhail_11_DD/ID_discovery_cases
Patients referred for clinical array CGH testing between January 2009 & December 2010 for various neurodevelopmental phenotypes (Univ. of Alabama-Birmingham)
1200
Developmental delay (DD), intellectual disability (ID), ASD, and/or multiple congenital anomalies
NA
NA
412000
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
665789
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
917340
1
1
2
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
132250
1
0
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
665114
1
6
7
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
141525
16
3
19
wright_21_ASD/DD_discovery_cases
Individuals with de novo 5q14.3 deletions affecting the promoter and 5'UTR region of the MEF2C gene from the DECIPHER database
2
Both individuals presented with developmental delay; one individual also presented with autism spectrum disorder, and seizures, while the other also presented with stereotypy.
7 yrs.
Male
294273
2
0
2
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
2289570
2
0
2
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
244381
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
270556
1
1
2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
2043024
1
2
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
260000
0
0
0
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
471417
10
2
12
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
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
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.
102319
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)
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
665114
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.
147433
12
0
12
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
244381
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
RT-PCR, qPCR, or ddPCR
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levchenko_22_DD/ID_discovery_cases
Russia
Array SNP
Affymetrix CytoScan HD, Affymetrix CytoScan XON
NA
NA
None
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
mikhail_11_DD/ID_discovery_cases
NA
aCGH
Agilent 4 X 44K, Agilent 2 X 105K
Feature Extraction V9.5, DNA Analytics V4.0
FISH
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)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
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
wright_21_ASD/DD_discovery_cases
Unknown
WES
Illumina HiSeq
None
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
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
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chan_22_ASD_discovery_cases-case3-0602-000
NA
F
ASD and intellectual disability
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Motor and musculoskeletal evaluation: sloping shoulders with scoliosis. Behavioral/psychiatric evaluation: long-standing anxiety disorder. Dysmorphic features: narrow deep-set palpebral fissures, triangular nose with broad nasal root/bridge and with nasal tip extending beyond the columella, short smooth philtrum, wide mouth with dental anomalies (ridged incisors, dental crowding), small hands with tubular digits, small feet with brachydactyly and some proximally placed toes. Growth parameters: short stature (height <3rd %ile), weight 10th %ile, body mass index 23.1, head circumference -1 SD. Family history: father with no neurodevelopmental phenotype.
Cognitive evaluation at 31 years 5 months demonstrated a full scale IQ score of 62, a listening comprehension standard score of 52 (<0.1%, 6 year 2 month-old level), and an oral expression standard score of 68 (2nd centile).
87603184
89649183
2046000
GRCh38
Duplication
Yes
coe_14_ASD/DD/ID_discovery_cases-case695
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
88668426
88928427
260002
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case696
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
88668426
88928427
260002
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case697
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
88668426
88928427
260002
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case698
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
88668426
88928427
260002
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case699
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
88668426
88928427
260002
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case700
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
88668426
88928427
260002
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case701
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
88668426
88928427
260002
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case702
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
88668426
88928427
260002
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case703
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
88668426
88928427
260002
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case704
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
88668426
88928427
260002
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_301268
N/A
F
Developmental delay/intellectual disability
84265306
85573193
1307888
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13010_123
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84867251
84967894
100644
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case17007_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84519595
84567429
47835
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18116_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86094833
86151094
56262
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20012_1062002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86310148
86934227
624080
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20012_1062002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86172152
86263315
91164
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20157_1658001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84758265
84802007
43743
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4180_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84487481
84620646
133166
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4380_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84487481
84611836
124356
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5371_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
90145503
90811291
665789
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6132_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
90587875
90707314
119440
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8709_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89256597
90173936
917340
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000956
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89052330
89487275
434946
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000956
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
90228146
91116592
888447
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000978
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
85876480
88958682
3082203
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001863
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
86743723
92337264
5593542
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001982
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
90590733
90849185
258453
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002052
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
86343721
88779835
2436115
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002351
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
88854849
89268660
413812
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004471
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
88720397
89487275
766879
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case3046
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.
84679869
84741107
61239
Unknown
Deletion
No
krumm_15_ASD_discovery_cases-case11860.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
90848636
90863859
15224
GRCh38
Duplication
Yes
levchenko_22_DD/ID_discovery_cases-caseD494
NA
M
Developmental delay/intellectual disability
Case presented with non-specific intellectual developmental disorder; no additional clinical information was provided.
88722608
89346136
623529
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11860.p1
NA
M
ASD
NA
NA
90845863
90922422
76560
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0145-000
NA
M
ASD
NA
NA
90114296
90841327
727032
GRCh38
Duplication
Yes
mikhail_11_DD/ID_discovery_cases-patient2
2.5 yrs.
M
Developmental delay
Expressive & receptive language delay. Hyperkineseis with stereotypic movement of hands & feet. Relative macrocephaly. Dysmorphic features: epicanthic folds, flat nasal bridge, posteriorly rotated ears. Normal brain MRI. Growth parameters: height, 89 cm (25th %ile); weight, 12.8 kg (25-50th %ile); head circumference, 50.5 cm (90-95th %ile).
Developmental delay
88873933
89286683
412751
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5371_3
NA
M
ASD
NA
NA
90145503
90811291
665789
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case18116_302
N/A
M
ASD
Autism (based on ADI-R and ADOS), language delay (first words 48 mo, first phrases 66 mo); odd gait (bouncing walk), significant aggression toward others, slight self-injury, EEG borderline abnormal, no reports of seizures (AGRE ID: AU2071302). Family history: mother had articulation problems; no other parent information.
PPVT 72; Stanford Binet: VIQ 52, NVIQ 86, FSIQ 67
86094833
86151094
56262
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case8709_201
N/A
F
ASD
Autism (ADI-R and ADOS positive), language delay (first words 48 mo, first phrases 54 mo), verbal
Vineland at 8 y 8 mo: Communication 50, Daily Living Skills 50, Socialization 61, Adaptive Behavior Composite 50
89256597
90173936
917340
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI3599A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1409301; NDAR ID NDAR_INVTJ570UWB)
90696937
90829186
132250
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case102350
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
84048995
84145803
96809
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case114079L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
87968762
87978963
10202
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case50620
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
86513363
86552299
38937
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case55262-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
89477791
90142904
665114
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case57601
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
86513363
86550977
37615
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case59640L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
86513363
86552299
38937
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case82058L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
89477791
90142904
665114
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11027.p1
9.3
M
ASD
NA
Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
84487481
84629006
141526
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11085.p1
10.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 68; verbal IQ, 51
87035931
87056684
20754
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11099.p1
11.4
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
84758265
84802007
43743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11198.p1
11.9
M
Autism
NA
Full-scale IQ, 120; non-verbal IQ, 115; verbal IQ, 123
87194476
87218704
24229
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11466.p1
9.2
M
Aspergers
NA
Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
87519428
87519655
228
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11484.p1
10.8
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 104
87055061
87056684
1624
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11558.p1
7.4
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 89
91718901
91780024
61124
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11601.p1
6.3
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
86803589
86811726
8138
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11642.p1
5.3
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 71; verbal IQ, 88
86385270
86394450
9181
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
90850412
90922795
72384
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11975.p1
6.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 59; verbal IQ, 75
87519428
87519655
228
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
87982999
88083210
100212
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12050.p1
5.5
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
89509022
89514375
5354
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
84758265
84802007
43743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12154.p1
4
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 87
85253577
85389144
135568
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12202.p1
11.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
87043120
87056684
13565
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12437.p1
10.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 78; verbal IQ, 72
87982999
88083210
100212
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12939.p1
12.8
M
Autism
NA
Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
84722520
84817037
94518
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13233.p1
13.6
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
87983260
88009252
25993
GRCh38
Deletion
No
wright_21_ASD/DD_discovery_cases-case10
7 yrs.
M
ASD, developmental delay, and seizures
Birth/neonatal history: small for gestational age (birth weight 4th %ile). Developmental milestones: severe global developmental delay. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hypotonia, broad-based gait, dsytonic hand movements. Behavioral/psychiatric evaluation: abnormal emotion/affect behavior, autistic spectrum disorder. Epilepsy/seizures: seizures. Additional medical history: paroxysmal episodes. Dysmorphic features: flat nasal bridge, high arched palate. Patient deposited in DECIPHER (DECIPHER ID 276603).
88827282
88924533
97252
GRCh38
Deletion
No
wright_21_ASD/DD_discovery_cases-case9
7 yrs.
M
Developmental delay and stereotypy
Developmental milestones: global developmental delay, delayed gross motor development, delayed speech and language development. Motor and musculoskeletal evaluation: muscular hypotonia, joint laxity, short distal phalanx of finger, clinodactyly of the fifth finger. Behavioral/psychiatric evaluation: recurrent hand flapping, bruxism, inappropriate laughter, possible increased pain threshold (hardly ever cried). Additional medical history: feeding difficulties in infancy. Dysmorphic features: downslanted palpebral fissures, pointed chin, skin tags, triangular face, suprasternal skin tag. Patient deposited in DECIPHER (DECIPHER ID 266213).
88837272
89131544
294273
GRCh38
Deletion
No
yingjun_17_ASD_discovery_cases-case3101
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
88836742
89013676
176935
GRCh38
Deletion
No
yingjun_17_ASD_discovery_cases-case7857
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
88900298
91189868
2289571
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case223
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
87966940
88211320
244381
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0845-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
88808127
89078683
270557
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case1-0907-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: auditory processing disorder
88682684
88791183
108500
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0845-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
88807338
89079461
272124
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0907-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
88680859
88790307
109449
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0602-000
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
87602738
89645761
2043024
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB722591_0067949257
N/A
N/A
Control
No previous psychiatric history
84758265
84804010
45746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB848304_1007844833
N/A
N/A
Control
No previous psychiatric history
86451054
86922471
471418
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB903773_0067949271
N/A
N/A
Control
No previous psychiatric history
84758265
84804010
45746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900117_900117
N/A
N/A
Control
No previous psychiatric history
85762564
85854551
91988
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900193_900193
N/A
N/A
Control
No previous psychiatric history
92286983
92409188
122206
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900405_900405
N/A
N/A
Control
No previous psychiatric history
85001490
85046807
45318
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900450_900450
N/A
N/A
Control
No previous psychiatric history
84758265
84802007
43743
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900914_900914
N/A
N/A
Control
No previous psychiatric history
84485531
84611836
126306
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900924_900924
N/A
N/A
Control
No previous psychiatric history
84758265
84804010
45746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901092_901092
N/A
N/A
Control
No previous psychiatric history
84853619
84906495
52877
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901225_901225
N/A
N/A
Control
No previous psychiatric history
87125654
87230971
105318
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902603_902603
N/A
N/A
Control
No previous psychiatric history
84485531
84611836
126306
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C27646
Control
85698718
85801036
102319
Unknown
Duplication
sanders_11_ASD_discovery_controls-11027.s1
5.8
M
Control (matched sibling)
NA
NA
84487481
84632663
145183
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11099.s1
14.5
F
Control (matched sibling)
NA
NA
84758265
84802007
43743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
85942022
86018229
76208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11374.s1
18.1
F
Control (matched sibling)
NA
NA
84758265
84802007
43743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11466.s1
7.3
F
Control (matched sibling)
NA
NA
87519428
87521631
2204
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11484.s1
14.4
M
Control (matched sibling)
NA
NA
87055116
87056684
1569
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11543.s1
18.1
F
Control (matched sibling)
NA
NA
85210614
85214422
3809
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11601.s1
9.3
F
Control (matched sibling)
NA
NA
86803589
86811726
8138
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
84758265
84802007
43743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12154.s1
9.1
F
Control (matched sibling)
NA
NA
85253577
85401010
147434
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12202.s1
8
M
Control (matched sibling)
NA
NA
87043120
87056684
13565
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12438.s1
6.4
M
Control (matched sibling)
NA
NA
87982999
88091755
108757
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chan_22_ASD_discovery_cases-case3-0602-000
RT-PCR, qPCR, or ddPCR
De novo
TMEM161B,MIR9-2,LINC00461,RPS3AP22,MEF2C,TMEM161B-DT,RNA5SP187,MEF2C-AS1,LINC02060,LINC02144,LINC02161,MEF2C-AS2,LINC02488,H3P23
coe_14_ASD/DD/ID_discovery_cases-case695
De novo
Unknown
Unknown
MEF2C-AS2,LINC00461,MEF2C,MEF2C-AS1
coe_14_ASD/DD/ID_discovery_cases-case696
De novo
Unknown
Unknown
MEF2C-AS2,LINC00461,MEF2C,MEF2C-AS1
coe_14_ASD/DD/ID_discovery_cases-case697
Unknown
Unknown
Unknown
MEF2C-AS2,LINC00461,MEF2C,MEF2C-AS1
coe_14_ASD/DD/ID_discovery_cases-case698
Unknown
Unknown
Unknown
MEF2C-AS2,LINC00461,MEF2C,MEF2C-AS1
coe_14_ASD/DD/ID_discovery_cases-case699
Unknown
Unknown
Unknown
MEF2C-AS2,LINC00461,MEF2C,MEF2C-AS1
coe_14_ASD/DD/ID_discovery_cases-case700
Unknown
Unknown
Unknown
MEF2C-AS2,LINC00461,MEF2C,MEF2C-AS1
coe_14_ASD/DD/ID_discovery_cases-case701
Unknown
Unknown
Unknown
MEF2C-AS2,LINC00461,MEF2C,MEF2C-AS1
coe_14_ASD/DD/ID_discovery_cases-case702
Unknown
Unknown
Unknown
MEF2C-AS2,LINC00461,MEF2C,MEF2C-AS1
coe_14_ASD/DD/ID_discovery_cases-case703
Unknown
Unknown
Unknown
MEF2C-AS2,LINC00461,MEF2C,MEF2C-AS1
coe_14_ASD/DD/ID_discovery_cases-case704
Unknown
Unknown
Unknown
MEF2C-AS2,LINC00461,MEF2C,MEF2C-AS1
digregorio_17_DD/ID_discovery_cases-DECIPHER_301268
Unknown
RBBP4P6,RPL5P17,PPIAP79,EDIL3
engchuan_15_ASD_discovery_cases-case13010_123
Unknown
engchuan_15_ASD_discovery_cases-case17007_1
Unknown
engchuan_15_ASD_discovery_cases-case18116_302
Unknown
engchuan_15_ASD_discovery_cases-case20012_1062002
Unknown
COX7C,RNU6-804P,LINC02059
engchuan_15_ASD_discovery_cases-case20012_1062002
Unknown
engchuan_15_ASD_discovery_cases-case20157_1658001
Unknown
engchuan_15_ASD_discovery_cases-case4180_1
Unknown
engchuan_15_ASD_discovery_cases-case4380_1
Unknown
engchuan_15_ASD_discovery_cases-case5371_3
Unknown
CETN3,MBLAC2,POLR3G,LYSMD3,ADGRV1,LINC01339
engchuan_15_ASD_discovery_cases-case6132_6
Unknown
ADGRV1
engchuan_15_ASD_discovery_cases-case8709_201
De novo
MIR3660,LINC02161,MEF2C-AS1,LINC01339
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000956
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MEF2C-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000956
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
TMEM251P1,CETN3,MBLAC2,POLR3G,LYSMD3,ADGRV1,LINC01339,LUCAT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000978
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PTP4A1P4,COX7C,RNU6-804P,LINC02059,RN7SKP34,MIR4280,RN7SL629P,RNU6-606P,RNU6-727P,RNA5SP187,RPS3AP22,MIR9-2,NBPF22P,LINC01949,CCNH,LINC02488,LINC02144,LINC02060,MEF2C-AS2,RASA1,TMEM161B,TMEM161B-AS1,LINC00461,MEF2C,MEF2C-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001863
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
LINC02059,RN7SKP34,MIR4280,RN7SL629P,RNU6-606P,RNU6-727P,RNA5SP187,RPS3AP22,MIR9-2,MIR3660,TMEM251P1,RNU4-90P,RAB5CP2,PCBP2P3,LINC01949,CCNH,LINC02488,LINC02144,LINC02060,MEF2C-AS2,CETN3,MBLAC2,POLR3G,LYSMD3,ARRDC3,ARRDC3-AS1,RASA1,TMEM161B,TMEM161B-AS1,LINC00461,MEF2C,LINC02161,ADGRV1,MEF2C-AS1,LINC01339,LUCAT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001982
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ADGRV1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002052
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
COX7C,RNU6-804P,LINC02059,RN7SKP34,MIR4280,RN7SL629P,RNU6-606P,RNU6-727P,RNA5SP187,RPS3AP22,MIR9-2,LINC01949,CCNH,LINC02488,LINC02144,LINC02060,MEF2C-AS2,RASA1,TMEM161B,TMEM161B-AS1,LINC00461,MEF2C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002351
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MEF2C,MEF2C-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004471
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MEF2C-AS2,MEF2C,MEF2C-AS1
kanduri_15_ASD_discovery_cases-case3046
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, EDIL3(dist=999184),NBPF22P(dist=837155)
krumm_15_ASD_discovery_cases-case11860.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ADGRV1
levchenko_22_DD/ID_discovery_cases-caseD494
Unknown
MEF2C,MEF2C-AS1,MEF2C-AS2
levy_11_ASD_discovery_cases-11860.p1
Maternal
Simplex
Segregated
ADGRV1
marshall_08_ASD_discovery_cases-NA0145-000
qPCR, qmPCR
Unknown
NA
NA
CETN3,MBLAC2,POLR3G,LYSMD3,ADGRV1,LINC01339
mikhail_11_DD/ID_discovery_cases-patient2
FISH
De novo
Unknown
Unknown
MEF2C,MEF2C-AS1
pinto_10_ASD_discovery_cases-case5371_3
Agilent1M
maternal
NA
NA
CETN3,MBLAC2,POLR3G,LYSMD3,ADGRV1,LINC01339
pinto_14_ASD_discovery_cases2-case18116_302
qPCR
Unknown (not maternal, father no DNA)
Multiplex
Not segregated (no CNV in affected sibling)
pinto_14_ASD_discovery_cases2-case8709_201
qPCR
De novo
Simplex
Segregated (no CNV in unaffected sister)
MIR3660,LINC02161,MEF2C-AS1,LINC01339
poultney_13_ASD_discovery_cases-case05HI3599A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ADGRV1
prasad_12_ASD_discovery_cases-case102350
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case114079L
Unknown
Unknown
Unknown
LOC645323
prasad_12_ASD_discovery_cases-case50620
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case55262-L
qPCR
Maternal
Unknown
Unknown
LYSMD3,POLR3G,CETN3,MBLAC2,GPR98
prasad_12_ASD_discovery_cases-case57601
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case59640L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case82058L
Unknown
Unknown
Unknown
LYSMD3,POLR3G,CETN3,MBLAC2,GPR98
sanders_11_ASD_discovery_cases-11027.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11085.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11099.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11198.p1
Paternal
Simplex (quad-proband matched)
Segregated
LINC01949
sanders_11_ASD_discovery_cases-11466.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11484.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11558.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11601.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11642.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11860.p1
Maternal
Simplex (quad-proband matched)
Segregated
ADGRV1
sanders_11_ASD_discovery_cases-11975.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12009.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12050.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12061.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12154.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12202.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12437.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12939.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13233.p1
Paternal
Simplex (quad-proband matched)
Not segregated
wright_21_ASD/DD_discovery_cases-case10
De novo
MEF2C,MEF2C-AS1
wright_21_ASD/DD_discovery_cases-case9
De novo
MEF2C,MEF2C-AS1
yingjun_17_ASD_discovery_cases-case3101
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
MEF2C,MEF2C-AS1
yingjun_17_ASD_discovery_cases-case7857
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
MIR3660,TMEM251P1,CETN3,MBLAC2,POLR3G,LYSMD3,MEF2C,LINC02161,ADGRV1,MEF2C-AS1,LINC01339,LUCAT1
yin_16_ASD_discovery_cases-case223
Unknown
Unknown
Unknown
TMEM161B
yuen_17_ASD_discovery_cases-case1-0845-003
Affymetrix CytoScanHD
Unknown
Simplex
Unknown
MEF2C,MEF2C-AS1
yuen_17_ASD_discovery_cases-case1-0907-003
Affymetrix CytoScanHD
Unknown
Simplex
Unknown
MEF2C-AS2,LINC00461,MEF2C
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0845-003
RT-qPCR or WGS
Unknown
MEF2C,MEF2C-AS1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0907-003
RT-qPCR or WGS
Unknown
LINC00461,MEF2C-AS2,MEF2C
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0602-000
RT-qPCR or WGS
Unknown
RNA5SP187,RPS3AP22,MIR9-2,LINC02060,LINC02488,LINC02144,TMEM161B,TMEM161B-AS1,LINC00461,MEF2C-AS2,MEF2C,LINC02161,MEF2C-AS1
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB722591_0067949257
Unknown
engchuan_15_ASD_discovery_controls-controlB848304_1007844833
Unknown
COX7C,RNU6-804P,LINC02059
engchuan_15_ASD_discovery_controls-controlB903773_0067949271
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900117_900117
Unknown
RPS2P25
engchuan_15_ASD_discovery_controls-controlHABC_900193_900193
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900405_900405
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900450_900450
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900914_900914
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900924_900924
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901092_901092
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901225_901225
Unknown
LINC01949
engchuan_15_ASD_discovery_controls-controlHABC_902603_902603
Unknown
nord_11_ASD_discovery_controls-04C27646
0 genes
sanders_11_ASD_discovery_controls-11027.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11099.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11345.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11374.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11466.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11484.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11543.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11601.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12061.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12154.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12202.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12438.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available