2q31.1CNV Type: Deletion-Duplication
Largest CNV size: 763276 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
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-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Lon...
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
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
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
318782
1
0
1
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
2000
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
185
1
0
1
de_bruijn_10_ASD_discovery_cases
Female with severe progressive autism with two de novo genomic changes: 2q31.1 deletion and balanced t(14;21)(q21.1;p11.2) translocation
1
Autism. Case fulfilled ICD-10 criteria for infantile autism; scored above threshold for infantile autism on ADOS-G test. Additional characteristics: mental retardation, developmental stagnation and regression.
19 yrs.
Female
2600000
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
58000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
763275
2
4
6
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
33214
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
3994435
5
0
5
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
114329
0
2
2
laffin_12_CAS_discovery_cases
Participants recruited and consented for a study of pediatric motor speech disorders
24
Diagnosis of childhood apraxia of speech (CAS) assessed by Madison Speech Assessment Protocol.
Mean, 8.3 3.7 yrs.
66% Male
1853226
1
0
1
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
1800000
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
763276
1
1
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
726107
3
1
4
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
36405
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
97182
8
2
10
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
147000
0
1
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
147000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
185
1
0
1
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
145723
1
2
3
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
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
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)
726107
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.
72074
6
2
8
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
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_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
de_bruijn_10_ASD_discovery_cases
European
Array SNP
Affymetrix 250K GeneChip
HMM
CNAG V2.0
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
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
laffin_12_CAS_discovery_cases
NA
aCGH
Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
OGT CytoSure Interpret v.3.4.3
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
annunziata_21_ASD_discovery_cases-caseIB259
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
175661121
175979902
318782
GRCh38
Deletion
Yes
asadollahi_14_NDD_discovery_cases-case61587
N/A
M
NDD
Case with unspecified neurodevelopmental disorder
170392397
170394848
2452
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC03039
N/A
M
ASD
Case from SSC_phase1 cohort
170083617
170083802
186
GRCh38
Deletion
No
de_bruijn_10_ASD_discovery_cases-case1
19 yrs.
F
Autism
Case fulfilled ICD-10 criteria for infantile autism (F84.0). ADOS-G evaluation: scored above threshold for infantile autism on all areas tested. Birth/neonatal history: born by C-section 10 weeks preterm after amniotic rupture; delivery and neonatal period described as normal. Developmental milestones: normal psychomotor development at 4 months; development normal until 6-7 months of age (passive, gave little contact, made few sounds); unable to sit without support at 1 year; walked at 23 months; learned to speak around 50 words, most of which were lost; developmental stgnation at 2 years, followed by developmental regression. Language and communication evaluation: language regression; communication with case is impossible. Motor and musculoskeletal evaluation: ataxia; broad-based gait; fine motor skills are better; needs diapers all the time. Behavioral/psychiatric evaluation: no eye contact, extreme restlessness, tearing off of clothing, unmotivated bursts of shouting, fascination for shiny objects and mirrors, supervision required to prevent physical destruction of surroundings. Epilepsy/seizures: isolated grand-mal seizure at 4 years; later variable epileptic episodes that were not problematic or difficult to treat (absences and partial seizures but few grand-mail seizures). EEG: general dysrhythmia. Brain CT (at 4 years): normal. Brain MRI (at 11 years): normal. Sleep disturbances: no recognizable sleep pattern, often awake at night. Dysmorphic features: none. Growth parameters:. Family history: mother's four previous children also born preterm. Karyotype: balanced t(14;21)(q21.1;p11.2) translocation.
Mental retardation and cognitive regression. IQ score at 7 years of age corresponded to age 1.5 years, while the same test done at 10 years fo age gave IQ score equivalent to 1.25-yr-old child. Vineland Adaptive Behavior Scale standard score fell from 32 points (at 7 years) to 20 points (at 10 years).
171481244
174068026
2586783
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300108
N/A
M
Developmental delay/intellectual disability
174393622
174451587
57966
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14337_4510
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
169510589
169570193
59605
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14410_5190
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
172372447
172410436
37990
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3423_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
169747068
169810303
63236
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3572_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
175630667
175696789
66123
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5320_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
170498688
171261963
763276
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5362_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
175688028
175737056
49029
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1182302
Autism
172821389
172854602
33214
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002417
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
170444219
172050237
1606019
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002597
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
170101430
171243609
1142180
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002597
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
173699279
175586070
1886792
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003874
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
172366752
176361187
3994436
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004517
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
173960458
175924594
1964137
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13991.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
169649181
169749732
100552
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14303.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
168859511
168973840
114330
GRCh38
Duplication
Yes
laffin_12_CAS_discovery_cases-case1
3-6 yrs.
NA
CAS
Years of apraxia treatment: 1. Familial status: negative. Language impairment: impairments in language onset, comprehension, and expression. Motor impairment: impairment in gross motor and oral-non verbal motor assessment tasks.
No cognitive impairment
171936126
173781136
1845011
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown140
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
172087026
173945026
1858001
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case3423_003
NA
M
Autism
No dysmorphic signs, weight >P97, height P90, head circumference P98
Moderate MR
169747068
169810303
63236
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5320_3
NA
M
ASD
NA
NA
170498688
171261963
763276
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case101464
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
177566886
177587582
20697
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case77253
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
176261986
176310257
48272
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case78248L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
170285836
170295872
10037
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case82921L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
171060349
171786455
726107
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP96-053_LP
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
169475884
169512288
36405
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11241.p1
12
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 77; verbal IQ, 80
172831976
172845903
13928
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11257.p1
5.5
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 118
176278821
176281547
2727
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11347.p1
15.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
174664089
174736163
72075
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11437.p1
16.6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
176237215
176334397
97183
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11468.p1
10.7
M
Aspergers
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
170121830
170181048
59219
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12314.p1
6.2
M
ASD
NA
Full-scale IQ, 116; non-verbal IQ, 121; verbal IQ, 103
175784496
175789220
4725
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12441.p1
13.7
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 18
172831976
172845903
13928
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12485.p1
6.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
172831976
172845903
13928
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12505.p1
5.3
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
175784496
175789220
4725
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
172006656
172012010
5355
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseCLIN19
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
176054704
176201705
147002
GRCh38
Duplication
No
soueid_16_DD/ID_discovery_cases-case7
N/A
N/A
Developmental delay/intellectual disability
176054704
176201705
147002
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC03048
N/A
M
Control
Control from SSC_phase1 cohort
170083617
170083802
186
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036023851_
N/A
N/A
Control
No previous psychiatric history
175766592
175812356
45765
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB665259_1007853930
N/A
N/A
Control
No previous psychiatric history
176671121
176794031
122911
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB818952_1007874830
N/A
N/A
Control
No previous psychiatric history
177038312
177184035
145724
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11257.s1
4.1
M
Control (matched sibling)
NA
NA
176278821
176281547
2727
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11347.s1
17
M
Control (matched sibling)
NA
NA
174664089
174736163
72075
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11765.s1
7.8
F
Control (matched sibling)
NA
NA
173828460
173834208
5749
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12153.s1
16.5
F
Control (matched sibling)
NA
NA
172231696
172233200
1505
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12518.s1
4.7
F
Control (matched sibling)
NA
NA
175784496
175789220
4725
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12690.s1
10.6
M
Control (matched sibling)
NA
NA
172831976
172845903
13928
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12799.s1
9
M
Control (matched sibling)
NA
NA
176380412
176395371
14960
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
172006656
172012010
5355
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
annunziata_21_ASD_discovery_cases-caseIB259
qPCR, FISH
Paternal
LNPK,EXTL2P1
asadollahi_14_NDD_discovery_cases-case61587
MLPA
Paternal
Unknown
Unknown
MYO3B
brandler_18_ASD_discovery_cases-caseSSC03039
Not available
Maternal
UBR3
de_bruijn_10_ASD_discovery_cases-case1
De novo
Simplex
Segregated
DAP3P2,RPL21P38,RNU6-182P,DLX1,DLX2,DLX2-DT,ITGA6-AS1,ALDH7A1P2,PPIAP66,RPL5P7,LINC01960,RPSAP24,CYBRD1,METAP1D,PDK1,RAPGEF4-AS1,CDCA7,DCAF17,DYNC1I2,ITGA6,MAP3K20,MAP3K20-AS1,SP3,SLC25A12,HAT1,RAPGEF4
Reduced expression of LRFN5 (10-fold less than control fibroblasts)
digregorio_17_DD/ID_discovery_cases-DECIPHER_300108
Paternal
CIR1,SCRN3,GPR155
engchuan_15_ASD_discovery_cases-case14337_4510
Unknown
KLHL41,FASTKD1
engchuan_15_ASD_discovery_cases-case14410_5190
Unknown
engchuan_15_ASD_discovery_cases-case3423_3
Unknown
PTCHD3P2,SSB,METTL5,KLHL23
engchuan_15_ASD_discovery_cases-case3572_3
Unknown
engchuan_15_ASD_discovery_cases-case5320_3
Unknown
HMGB1P4,LINC01124,SP5,EIF2S2P4,GAD1,GORASP2,MYO3B,ERICH2,TLK1
engchuan_15_ASD_discovery_cases-case5362_4
Unknown
gai_11_ASD_discovery_cases-AU1182302
Inherited
0 genes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002417
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HMGB1P4,LINC01124,SP5,EIF2S2P4,DAP3P2,RPL21P38,RNU6-182P,GAD1,GORASP2,METTL8,CYBRD1,METAP1D,MYO3B,ERICH2,TLK1,DCAF17,DYNC1I2,SLC25A12,HAT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002597
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-1006P,HMGB1P4,LINC01124,SP5,EIF2S2P4,GAD1,GORASP2,MYO3B,ERICH2,TLK1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002597
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPL5P7,LINC01960,RPSAP24,RN7SL65P,HNRNPA1P39,LINC01305,SP9,RNU6-5P,H3F3AP4,RNU6-763P,RNU6-1290P,MIR933,CIR1,SCRN3,CHRNA1,ATP5MC3,SP3,OLA1,GPR155,WIPF1,CHN1,ATF2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003874
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ITGA6-AS1,ALDH7A1P2,PPIAP66,RPL5P7,LINC01960,RPSAP24,RN7SL65P,HNRNPA1P39,LINC01305,SP9,RNU6-5P,H3F3AP4,RNU6-763P,RNU6-1290P,MIR933,EXTL2P1,HOXD12,HOXD11,HOXD9,HOXD8,MIR10B,HOXD4,HAGLROS,HOXD1,MIR7704,PPIAP67,PDK1,RAPGEF4-AS1,CDCA7,CIR1,SCRN3,CHRNA1,ATP5MC3,LNPK,EVX2,HOXD13,HOXD10,HOXD-AS2,HAGLR,RPSAP25,ITGA6,MAP3K20,MAP3K20-AS1,SP3,OLA1,GPR155,WIPF1,CHN1,MTX2,RAPGEF4,ATF2,HOXD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004517
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01960,RPSAP24,RN7SL65P,HNRNPA1P39,LINC01305,SP9,RNU6-5P,H3F3AP4,RNU6-763P,RNU6-1290P,MIR933,EXTL2P1,CIR1,SCRN3,CHRNA1,ATP5MC3,LNPK,SP3,OLA1,GPR155,WIPF1,CHN1,ATF2
krumm_15_ASD_discovery_cases-case13991.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
PHOSPHO2,CCDC173,KLHL23
krumm_15_ASD_discovery_cases-case14303.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
SPC25,G6PC2,ABCB11,NOSTRIN
laffin_12_CAS_discovery_cases-case1
Unknown
Simplex
Unknown
DLX1,DLX2,DLX2-DT,ITGA6-AS1,ALDH7A1P2,PPIAP66,METAP1D,PDK1,RAPGEF4-AS1,CDCA7,ITGA6,MAP3K20,MAP3K20-AS1,SLC25A12,HAT1,RAPGEF4
maini_18_ASD/DD/ID_discovery_cases-case_unknown140
De novo
Unknown
Unknown
DLX1,DLX2,DLX2-DT,ITGA6-AS1,ALDH7A1P2,PPIAP66,RPL5P7,PDK1,RAPGEF4-AS1,CDCA7,ITGA6,MAP3K20,MAP3K20-AS1,SP3,RAPGEF4
pinto_10_ASD_discovery_cases-case3423_003
qPCR-Maternal
maternal
Simplex
NA
PTCHD3P2,SSB,METTL5,KLHL23
pinto_10_ASD_discovery_cases-case5320_3
Agilent1M
maternal
NA
NA
HMGB1P4,LINC01124,SP5,EIF2S2P4,GAD1,GORASP2,MYO3B,ERICH2,TLK1
prasad_12_ASD_discovery_cases-case101464
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case77253
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case78248L
Unknown
Unknown
Unknown
PHOSPHO2-KLHL23
prasad_12_ASD_discovery_cases-case82921L
Unknown
Unknown
Unknown
MYO3B,TLK1,GORASP2,SP5,LOC440925,GAD1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP96-053_LP
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
BBS5,KLHL41
sanders_11_ASD_discovery_cases-11241.p1
Unknown
Simplex (quad-proband matched)
Segregated
RAPGEF4
sanders_11_ASD_discovery_cases-11257.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MTX2
sanders_11_ASD_discovery_cases-11347.p1
Paternal
Simplex (quad-proband matched)
Not segregated
H3F3AP4,WIPF1
sanders_11_ASD_discovery_cases-11437.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RPSAP25,MTX2
sanders_11_ASD_discovery_cases-11468.p1
Maternal
Simplex (trio)
NA
MYO3B
sanders_11_ASD_discovery_cases-12314.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12441.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RAPGEF4
sanders_11_ASD_discovery_cases-12485.p1
Paternal
Simplex (trio)
NA
RAPGEF4
sanders_11_ASD_discovery_cases-12505.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13076.p1
Both parents
Simplex (quad-proband matched)
Not segregated
METAP1D
soueid_16_ASD_discovery_cases-caseCLIN19
Both parents
Multiplex
HOXD12,HOXD11,HOXD9,HOXD8,MIR10B,HOXD4,HAGLROS,HOXD1,MIR7704,EVX2,HOXD13,HOXD10,HOXD-AS2,HAGLR,HOXD3
soueid_16_DD/ID_discovery_cases-case7
Unknown
Unknown
Unknown
HOXD12,HOXD11,HOXD9,HOXD8,MIR10B,HOXD4,HAGLROS,HOXD1,MIR7704,EVX2,HOXD13,HOXD10,HOXD-AS2,HAGLR,HOXD3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC03048
Not available
Maternal
UBR3
engchuan_15_ASD_discovery_controls-control110036023851_
Unknown
engchuan_15_ASD_discovery_controls-controlB665259_1007853930
Unknown
engchuan_15_ASD_discovery_controls-controlB818952_1007874830
Unknown
RNA5SP112
sanders_11_ASD_discovery_controls-11257.s1
Paternal
Simplex (quad)
NA
MTX2
sanders_11_ASD_discovery_controls-11347.s1
Paternal
Simplex (quad)
NA
H3F3AP4,WIPF1
sanders_11_ASD_discovery_controls-11765.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12153.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12518.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12690.s1
Unknown
Simplex (quad)
NA
RAPGEF4
sanders_11_ASD_discovery_controls-12799.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13076.s1
Both parents
Simplex (quad)
NA
METAP1D
No Animal Model Data Available