7q31.33CNV Type: Deletion-Duplication
Largest CNV size: 839000 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
260000
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
402917
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
80000
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
158476
5
2
7
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
486422
2
0
2
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
20230
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
56099
0
1
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
918365
1
0
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
500000
1
0
1
maestrini_10_ASD_7q_discovery_cases
127 probands selected from IMGSAC multiplex families based on IBD sharing on chromosome 7q. 117 parent-parent-child trios, 10 parent-child pairs.
127
ASD
79.5% Male
1003900
0
0
0
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
320000
1
1
2
mccormack_14_DD_discovery_cases
First-born girl of nonconsanguineous Iraqi and Afghani parents evaluated in Auckland, New Zealand
1
Developmental delay, microcephaly, and mild autistic traits
7.5 yrs.
Female
232000
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
683493
2
0
2
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
34522
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
75229
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
481267
3
4
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
177574
10
3
13
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
839000
1
0
1
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
4759
1
0
1
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
72861
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
192782
4
0
4
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
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
500000
1
0
1
maestrini_10_ASD_7q_discovery_controls
Controls for IMGSAC chromosome 7 case cohort
188
Controls
78.7% Male
1003900
1
0
1
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.
33112
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)
481267
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.
60723
3
3
6
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
839000
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
maestrini_10_ASD_7q_discovery_cases
66 UK, 28 USA, 13 Netherlands, 9 France, 7 Germany, 3 Denmark, 1 Greece
Solid phase hybridization
GoldenGate assay on Illumina BeadStation
QuantiSNP v 1.0
BeadStudio genotyping v3.2.23
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mccormack_14_DD_discovery_cases
Iraqi/Afghani
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.1.2.2
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
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
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
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
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
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
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
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
maestrini_10_ASD_7q_discovery_controls
United Kingdom
Solid phase hybridization
GoldenGate assay on Illumina BeadStation
QuantiSNP v 1.0
BeadStudio genotyping v3.2.23
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
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
asadollahi_14_NDD_discovery_cases-case53983
1 yr.
M
Developmental delay
Developmental delay, hypotonia, strabismus
126462750
126722500
259751
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case7-0279-003
N/A
F
ASD
Case from MSSNG cohort
127048324
127451240
402917
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300078
N/A
M
ASD
Autism spectrum disorder
124312403
124389443
77041
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14118_2100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
125064824
125165225
100402
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)
124178805
124337281
158477
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4137_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
125757519
125858600
101082
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5264_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
126814649
126889877
75229
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6403_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
126814649
126867849
53201
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8405_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
125304928
125374852
69925
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8510_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
124960451
125033319
72869
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1234302
Autism
124870256
125356677
486422
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1272302
Autism
126245015
126306905
61891
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case545-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
125507722
125527952
20231
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseY90
4 yrs. 9 mos.
M
ASD
126429887
126485985
56099
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000410
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
126029439
126947804
918366
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU1234302
N/A
M
ASD
125442946
125935946
493001
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case24
3 yrs.
F
Developmental delay and intellectual disability
Birth history: born at 37 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay, language delay. Language and communication evaluation: absent speech. Musculoskeletal evaluation: pes planus. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: neurological anomalies, skin anomalies, ematologic anomalies. Dysmorphic features: straight eyebrows, narrow nasal bridge, large nasal tip, everted lower lip, thin hair, low-set frontal hairline. Growth parameters: microcephaly, normal growth. Family history: negative for consanguineity, positive for familiarity, family history negative for NDDs.
Moderate intellectual disability
125970000
125973512
3513
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case93
6 yrs.
M
ASD and language delay
Birth history: born at 41 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: ASD. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: cerebral malformations. Dysmorphic features: prominent forehead. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history negative for NDDs.
Normal (no intellectual disability or learning disorder)
126235232
126559588
324357
GRCh38
Duplication
No
mccormack_14_DD_discovery_cases-case1
7.5 yrs.
F
Developmental delay
Birth/neonatal history: delivered at 38 weeks of gestation via induction due to concerns of IUGR; birth weight of 2490 g (3rd-10th %ile); no antenatal complications. Developmental milestones: age-appropriate milestones (walking at 15 months, but always on toes); difficulties with abnormal gait, toe walking and lack of balance and control noted at age of 2 years 7 months. Language and communication evaluation: normal verbal skills. Motor and musculoskeletal evaluation: fine motor skills determined to be at a 4-5 years old level at age of 7.5 years; idiopathic toe-walking had resolved at age of 3 years. Behavioral/psychiatric evaluation: mild autistic traits; excellent social skills; friendly, amicable behavior. Dysmorphic features: possible almond shaped eyes, small hands. Growth parameters: microcephaly; head circumference of 47 cm (2nd %ile) at age of 5.5 years. Family history: first-born girl of non-consanguineous Iraqi and Afghani parents; unremarkable family history on maternal side of family; father reportedly struggled at school and may have been microcephalic.
Developmental delay; functioning at 4-5 years of level academically at age of 7.5 years.
126890985
127123240
232256
GRCh38
Deletion
No
mosca_16_DCD_discovery_cases-case105103
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
124907339
125170345
263007
GRCh38
Deletion
No
mosca_16_DCD_discovery_cases-case109303
N/A
M
DCD/ADHD/RD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected.
125407148
126090640
683493
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-209-1
ASD
125225655
125260176
34522
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case5264_4
NA
F
ASD
NA
NA
126814649
126889877
75229
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case100557L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
126244171
126324036
79866
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case119776
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
124324707
124335800
11094
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case128860
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
126121250
126155919
34670
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case130293
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
126580660
126602515
21856
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case146436L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
126272537
126289499
16963
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case154267L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
125020925
125502191
481267
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case44644
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
124324707
124335800
11094
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11013.p1
10
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 137; verbal IQ, 119
124863135
124916419
53285
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11047.p1
10.4
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
124897982
124909519
11538
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11346.p1
11
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 132; verbal IQ, 121
125718451
125752304
33854
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11445.p1
8.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 67
126072683
126127853
55171
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11502.p1
16.1
F
Autism
NA
Full-scale IQ, 154; non-verbal IQ, 148; verbal IQ, 145
125967824
126145398
177575
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11511.p1
10.6
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
125839524
125844742
5219
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11619.p1
5.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 105; verbal IQ, 108
124897982
124909519
11538
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11780.p1
4.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 112; verbal IQ, 120
124504945
124597614
92670
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12315.p1
5.8
M
ASD
NA
Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
125967824
126137924
170101
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12515.p1
6.3
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
126814649
126889341
74693
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12610.p1
5.4
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 71
126942760
126985672
42913
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12749.p1
7.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
125983088
126055746
72659
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12892.p1
6.3
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
127135144
127139902
4759
GRCh38
Deletion
No
wang_10_ASD_discovery_cases-AC0058
35
F
ASD
NA
NA
125325175
126163907
838733
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case55
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
127135144
127139902
4759
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0650-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
127171274
127244134
72861
GRCh38
Deletion
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-controlB293253_1007842044
N/A
N/A
Control
No previous psychiatric history
125718451
125752304
33854
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB615881_1007871712
N/A
N/A
Control
No previous psychiatric history
125865183
125915974
50792
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900370_900370
N/A
N/A
Control
No previous psychiatric history
125915974
126108756
192783
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901105_901105
N/A
N/A
Control
No previous psychiatric history
125951315
126096219
144905
GRCh38
Deletion
No
leppa_16_ASD_discovery_controls-AU1234304
N/A
M
Control
Unaffected sibling
125442946
125935946
493001
GRCh38
Deletion
No
maestrini_10_ASD_7q_discovery_controls-controlC2048
NA
Control
NA
NA
124276000
125280000
1003900
Unknown
Deletion
No
nord_11_ASD_discovery_controls-04C27412
Control
125372544
125405655
33112
Unknown
Duplication
sanders_11_ASD_discovery_controls-11047.s1
12.9
F
Control (matched sibling)
NA
NA
124897982
124909519
11538
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11346.s1
12.9
M
Control (matched sibling)
NA
NA
125718451
125752304
33854
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11445.s1
9.5
F
Control (matched sibling)
NA
NA
126072683
126133406
60724
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11511.s1
9
M
Control (matched sibling)
NA
NA
125839524
125844742
5219
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11855.s1
15.9
F
Control (matched sibling)
NA
NA
125951315
125961475
10161
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12647.s1
9.1
M
Control (matched sibling)
NA
NA
125951315
125967824
16510
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case53983
MLPA
Paternal
Unknown
Unknown
GRM8
brandler_18_ASD_replication_cases-case7-0279-003
No validation step reported
Paternal
MIR592,PRELID3BP10,ZNF800,GRM8
digregorio_17_DD/ID_discovery_cases-DECIPHER_300078
Unknown
engchuan_15_ASD_discovery_cases-case14118_2100
Unknown
POT1-AS1
engchuan_15_ASD_discovery_cases-case14185_3040
Unknown
engchuan_15_ASD_discovery_cases-case4137_1
Unknown
engchuan_15_ASD_discovery_cases-case5264_4
Unknown
GRM8
engchuan_15_ASD_discovery_cases-case6403_3
Unknown
GRM8
engchuan_15_ASD_discovery_cases-case8405_202
Unknown
engchuan_15_ASD_discovery_cases-case8510_201
Unknown
POT1-AS1
gai_11_ASD_discovery_cases-AU1234302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1272302
Inherited
GRM8 (intronic)
gazzellone_14_ASD_discovery_cases-case545-3
Unknown
Unknown
Unknown
han_22_ASD/DD/ID_discovery_cases-caseY90
Paternal
GRM8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000410
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GRM8
leppa_16_ASD_discovery_cases-AU1234302
Maternal
Multiplex
Not segregated (CNV not present in affected sibling but is present in unaffected sibling AU1234304)
maini_18_ASD/DD/ID_discovery_cases-case24
Maternal
Simplex
Unknown
maini_18_ASD/DD/ID_discovery_cases-case93
Paternal
Simplex
Unknown
GRM8
mccormack_14_DD_discovery_cases-case1
Possibly parental
Unknown
Possibly multi-generational
Unknown
MIR592,GRM8
mosca_16_DCD_discovery_cases-case105103
Unknown
Unknown
Unknown
EEF1GP1,POT1,POT1-AS1
mosca_16_DCD_discovery_cases-case109303
Unknown
Simplex
Unknown
nord_11_ASD_discovery_cases-209-1
Maternal
0 genes
pinto_10_ASD_discovery_cases-case5264_4
Agilent1M
paternal
NA
NA
GRM8
prasad_12_ASD_discovery_cases-case100557L
Unknown
Unknown
Unknown
GRM8
prasad_12_ASD_discovery_cases-case119776
qPCR
Paternal
Simplex
Segregated
POT1
prasad_12_ASD_discovery_cases-case128860
qPCR
Paternal
Unknown
Unknown
GRM8
prasad_12_ASD_discovery_cases-case130293
qPCR
Maternal
Unknown
Unknown
GRM8
prasad_12_ASD_discovery_cases-case146436L
qPCR
Maternal
Unknown
Unknown
GRM8
prasad_12_ASD_discovery_cases-case154267L
Unknown
Simplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case44644
qPCR
Maternal
Multiplex
Not segregated (duplication present in unaffected sibling)
POT1
sanders_11_ASD_discovery_cases-11013.p1
Unknown
Simplex (quad-proband matched)
Segregated
POT1
sanders_11_ASD_discovery_cases-11047.p1
Paternal
Simplex (quad-proband matched)
Not segregated
POT1
sanders_11_ASD_discovery_cases-11346.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11445.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11502.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11511.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11619.p1
Paternal
Simplex (trio)
NA
POT1
sanders_11_ASD_discovery_cases-11780.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12315.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12515.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GRM8
sanders_11_ASD_discovery_cases-12610.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GRM8
sanders_11_ASD_discovery_cases-12749.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12892.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GRM8
wang_10_ASD_discovery_cases-AC0058
Unknown
NA
NA
wenger_16_ASD_discovery_cases-case55
Unknown
GRM8
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0650-003
RT-qPCR or WGS
Unknown
GRM8
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB293253_1007842044
Unknown
engchuan_15_ASD_discovery_controls-controlB615881_1007871712
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900370_900370
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901105_901105
Unknown
leppa_16_ASD_discovery_controls-AU1234304
Maternal
Multiplex
maestrini_10_ASD_7q_discovery_controls-controlC2048
Unknown
NA
NA
POT1
nord_11_ASD_discovery_controls-04C27412
0 genes
sanders_11_ASD_discovery_controls-11047.s1
Paternal
Simplex (quad)
NA
POT1
sanders_11_ASD_discovery_controls-11346.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11445.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11511.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11855.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12647.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available