4q22.2CNV Type: Deletion-Duplication
Largest CNV size: 78729 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Deletion
Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Etiological yield of SNP microarrays in idiopathic intellectual disability.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
50588
0
1
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
75767
2
0
2
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
99046
1
1
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
27789
1
0
1
grigorenko_22_DD/ID_discovery_cases
Three similarly affected siblings with a homozygous deletion affecting the GRID2 gene who were born to consanguineous Brazilian parents
3
All three cases presented with developmental delay (inability to walk without support, inability to stand up without support, and absent speech), intellectual disability, and seizures
NA
33.33% Male
36234
6
0
6
hills_13_DD/ID_discovery_cases
Affected individuals from two families (one consanguineous, one non-consanguineous) presenting with a syndrome causing cerebellar ataxia, eye movement abnormalities, and delayed speech and cognitive development
4
Developmental delay/intellectual disability (speech delay and cognitive delay), cerebellar ataxia, eye movement abnormalities (tonic upgaze, nystagmus)
Range, 4 yrs 3 mos-14 yrs 1 mo
25% Male
37000
6
0
6
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
162130
1
0
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
162131
1
0
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
19544
1
0
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
630619
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
135684
3
0
3
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
78729
3
1
4
utine_14_DD/ID/ASD_discovery_cases
Patients referred for genetic evaluation for developmental delay or intellectual disability, with or without accompanying dysmorphic features, single or multiple malformations, growth disorder, behavior disorder and/or autism, and family history of ID/autism (Hacettepe University, Ankara, Turkey)
100
Developmental delay (74 cases with prominent motor delay, 86 with delayed mental milestones; 67 with both) and/or intellectual disability (18 cases with mild ID, 48 with moderate ID, 34 with severe ID); 36 cases with problems in social interactions (considered as "autistic features); 30 cases with history of at least one seizures; 89 cases with brain imaging (normal in 61 cases).
Range, 2-22 yrs. (mean age, 10.8 yrs.)
75% Male
150000
2
0
2
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
721000
0
1
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
256495
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
0
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
0
0
0
0
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
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
45387
1
0
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)
135684
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.
112617
2
0
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
qPCR
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
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
qPCR, Taqman assay
grigorenko_22_DD/ID_discovery_cases
Brazil
WGS
Illumina HiSeq2000
hills_13_DD/ID_discovery_cases
Jordanian (3 cases), Mexican (1 case)
aCGH
Agilent 8x60K custom microarray
eArray
qPCR
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
utine_14_DD/ID/ASD_discovery_cases
Turkey
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.0
None
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
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
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
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
bacchelli_20_ASD_discovery_cases-caseAB71
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
93128672
93179259
50588
GRCh38
Duplication
Yes
brandler_18_ASD_replication_cases-caseAU4483301
N/A
M
ASD
Case from MSSNG cohort
93064252
93121740
57489
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseSSC07614
N/A
M
ASD
Case from SSC_phase2 cohort
93006781
93082547
75767
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14376_4890
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93403324
93502370
99047
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4224_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93128433
93186485
58053
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case694-3
4 yrs.
M
ASD
ASD; no other clinical information provided
N/A
93223470
93251259
27790
GRCh38
Deletion
Yes
grigorenko_22_DD/ID_discovery_cases-caseFam1-IV-1
NA
F
Developmental delay, intellectual disability, and seizures
Inability to walk without support, inability to stand up without support, divergent strabismus, seizures, hirsutism, coarse facial features, short and small hands and feet, small stature, speech impairment (absent speech); born to unaffected consanguineous Brazilian parents, three similarly affected siblings (two confirmed to have the GRID2 deletion).
Intellectual disability
93190888
93227121
36234
GRCh38
Homozygous deletion
Yes
grigorenko_22_DD/ID_discovery_cases-caseFam1-IV-2
NA
M
Developmental delay, intellectual disability, and seizures
Inability to walk without support, inability to stand up without support, divergent strabismus, seizures, hirsutism, coarse facial features, short and small hands and feet, small stature, speech impairment (absent speech); born to unaffected consanguineous Brazilian parents, three similarly affected siblings (two confirmed to have the GRID2 deletion).
Intellectual disability
93190888
93227121
36234
GRCh38
Homozygous deletion
Yes
grigorenko_22_DD/ID_discovery_cases-caseFam1-IV-3
NA
F
Developmental delay, intellectual disability, and seizures
Inability to walk without support, inability to stand up without support, divergent strabismus, seizures, hirsutism, coarse facial features, short and small hands and feet, small stature, speech impairment (absent speech); born to unaffected consanguineous Brazilian parents, three similarly affected siblings (two confirmed to have the GRID2 deletion).
Intellectual disability
93190888
93227121
36234
GRCh38
Homozygous deletion
Yes
hills_13_DD/ID_discovery_cases-caseCH-4901
5 yrs. 2 mos.
F
Developmental delay/intellectual disability
Developmental milestones: single words at 4 years; sat without support at 2 years, walked with both hands held at 2.5 years and with one hand held at 4 years. Language and communication evaluation: currently speaks in 2-word sentences, 50-70 word vocabulary. Motor and musculoskeletal evaluation: unable to walk without support; hypotonia; truncal and appendicular ataxia. Abnormal eye movements: frequent tonic upgaze, occasional horizontal nystagmus on primary gaze. Brain imaging: progressive atrophy of cerebellar vermis and hemispheres observed on brain MRI. Growth parameters: head circumference of 49 cm (15th %ile). Family history: one of three affected indiviudals from a consanguineous pedigree (CH-4900) of Jordanian heritage.
Developmental delay/intellectual disability
93098691
93135614
36924
GRCh38
Homozygous deletion
Yes
hills_13_DD/ID_discovery_cases-caseCH-4904
12 yrs. 5 mos.
M
Developmental delay/intellectual disability
Developmental milestones: two-word sentences since 5-6 years; sat without support at 1 years, walked with both hands held at 1 year and with one hand held at 3-4 years. Language and communication evaluation: currently speaks in single words and some short sentences, comprehension estimated at 3 years. Motor and musculoskeletal evaluation: unable to walk without support; hypotonia; truncal and appendicular ataxia. Abnormal eye movements: eyes mostly remain deviated upward, frequent bursts of upward or diagonal nystagmus, and gaze-evoked nystagmus. Brain imaging: not done. Growth parameters: head circumference of 54 cm (51st %ile). Family history: one of three affected indiviudals from a consanguineous pedigree (CH-4900) of Jordanian heritage.
Developmental delay/intellectual disability
93098691
93135614
36924
GRCh38
Homozygous deletion
Yes
hills_13_DD/ID_discovery_cases-caseCH-4911
14 yrs. 1 mo.
F
Developmental delay/intellectual disability
Developmental milestones: repetitive syllables at 2 years, two-word sentences at 5-6 years; sat without support at 2 years, walked with both hands held at 3 years. Language and communication evaluation: currently speaks in full sentences, names a few body parts and colors, comprehension estimated at 6-7 years. Motor and musculoskeletal evaluation: currently wheelchair-dependent; hypotonia; contracture of shoulder and knee joints; truncal and appendicular ataxia. Abnormal eye movements: occasional tonic upgaze, occasional horizontal nystagmus on primary gaze. Brain imaging: not done. Growth parameters: head circumference of 55 cm (81st %ile). Family history: one of three affected indiviudals from a consanguineous pedigree (CH-4900) of Jordanian heritage.
Developmental delay/intellectual disability
93098691
93135614
36924
GRCh38
Homozygous deletion
Yes
kushima_18_SCZ_discovery_cases-caseSCZ1083
20 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 17 years of age (core symptoms include persecutory delusions, hallucinations, hostility, disorganized thoughts, negative symptoms), autistic traits. Family history: negative.
IQ > 70
92930845
93092974
162130
GRCh38
Deletion
N/A
kushima_22_SCZ_discovery_cases-caseSCZ1083
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
92930844
93092974
162131
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case14.1
N/A
N/A
Autism
No additional clinical information available
92969323
92988867
19545
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case8677_201
6 yrs.
M
ASD
Autism (ADI-R and ADOS positive), no language delay (first words 13 mo, first phrases 30 mo), verbal. Family history: N/A.
Differential Ability Scales at 6 y: FSIQ 66
93518875
94149493
630619
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case121091
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
94025204
94160887
135684
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case157610
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
94105728
94135085
29358
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60685L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
94167265
94186125
18861
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11387.p1
8.4
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
92990012
93068741
78730
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11537.p1
14.3
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
93429605
93451676
22072
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11627.p1
5.7
M
ASD
NA
Full-scale IQ, 92; non-verbal IQ, 100; verbal IQ, 83
93139968
93162948
22981
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12603.p1
11.7
M
Autism
NA
Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
92865624
92900366
34743
GRCh38
Deletion
No
utine_14_DD/ID/ASD_discovery_cases-case1
N/A
M
Developmental delay
Note: case previously described in PMID 23611888. Patient with congenital onset progressive cerebellar disorder; nystagmus, hypotonia, marked motor delay from early infancy, cerebellar ataxia, oculomotor apraxia, pyramidal tract involvement. Family history: two similarly affected cousins of similar descent; deletion was heterozygously present in consanguineous parents of all three affected children.
Moderate DD/ID (main area of delay/disability: motor)
N/A
N/A
150000
Unknown
Homozygous deletion
No
xu_16_ASD/DD/ID_discovery_cases-case23
N/A
N/A
ASD
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
93505150
94226597
721448
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1625-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
93173367
93429861
256495
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case235974S
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Learning disability
93001319
93086381
85063
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
levy_11_ASD_discovery_controls-12329.s1
NA
M
Control
NA
NA
92877528
92922914
45387
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11346.s1
12.9
M
Control (matched sibling)
NA
NA
92923472
93036089
112618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12329.s1
6.3
M
Control (matched sibling)
NA
NA
92878937
92915404
36468
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_cases-caseAB71
qPCR
Maternal
Simplex
GRID2
brandler_18_ASD_replication_cases-caseAU4483301
No validation step reported
Paternal
GRID2
brandler_18_ASD_replication_cases-caseSSC07614
No validation step reported
Paternal
GRID2
engchuan_15_ASD_discovery_cases-case14376_4890
Unknown
GRID2
engchuan_15_ASD_discovery_cases-case4224_1
Unknown
GRID2
gazzellone_14_ASD_discovery_cases-case694-3
qPCR or Taqman assay
Maternal
Unknown
Unknown
GRID2
grigorenko_22_DD/ID_discovery_cases-caseFam1-IV-1
PCR, Sanger sequencing
Both parents
Multiplex
GRID2
grigorenko_22_DD/ID_discovery_cases-caseFam1-IV-2
PCR, Sanger sequencing
Both parents
Multiplex
GRID2
grigorenko_22_DD/ID_discovery_cases-caseFam1-IV-3
PCR, Sanger sequencing
Both parents
Multiplex
GRID2
hills_13_DD/ID_discovery_cases-caseCH-4901
qPCR
Both parents
Multi-generational
Segregated (as part of homozygous GRID2 deletion)
GRID2
hills_13_DD/ID_discovery_cases-caseCH-4904
qPCR
Both parents
Multi-generational
Segregated (as part of homozygous GRID2 deletion)
GRID2
hills_13_DD/ID_discovery_cases-caseCH-4911
qPCR
Both parents
Multi-generational
Segregated (as part of homozygous GRID2 deletion)
GRID2
kushima_18_SCZ_discovery_cases-caseSCZ1083
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
GRID2
kushima_22_SCZ_discovery_cases-caseSCZ1083
qRT-PCR
Unknown
GRID2
lintas_17_ASD_discovery_cases-case14.1
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
GRID2
pinto_14_ASD_discovery_cases2-case8677_201
qPCR
De novo
Simplex
Likely segregated (not tested)
RNA5SP164,ATOH1,GRID2
prasad_12_ASD_discovery_cases-case121091
Unknown
Unknown
Unknown
GRID2
prasad_12_ASD_discovery_cases-case157610
Unknown
Unknown
Unknown
GRID2
prasad_12_ASD_discovery_cases-case60685L
Unknown
Unknown
Unknown
GRID2
sanders_11_ASD_discovery_cases-11387.p1
Maternal
Simplex (trio)
NA
GRID2
sanders_11_ASD_discovery_cases-11537.p1
Unknown
Simplex (quad-proband matched)
Segregated
GRID2
sanders_11_ASD_discovery_cases-11627.p1
Maternal
Simplex (quad-proband matched)
Segregated
GRID2
sanders_11_ASD_discovery_cases-12603.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GRID2
utine_14_DD/ID/ASD_discovery_cases-case1
Both parents
Extended multiplex
Segregated
GRID2
xu_16_ASD/DD/ID_discovery_cases-case23
Unknown (not maternal)
RNA5SP164,ATOH1,HMGB3P15,SMARCAD1,GRID2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1625-003
RT-qPCR or WGS
Paternal
GRID2
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case235974S
RT-qPCR or WGS
Unknown
GRID2
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
levy_11_ASD_discovery_controls-12329.s1
aCGH (Agilent 244K)
De novo
Simplex
NA
GRID2
sanders_11_ASD_discovery_controls-11346.s1
Maternal
Simplex (quad)
NA
GRID2
sanders_11_ASD_discovery_controls-12329.s1
Unknown
Simplex (quad)
NA
GRID2
No Animal Model Data Available