1q24.2CNV Type: Deletion
Largest CNV size: 264937 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
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.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
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
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Deletion
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chilian_13_DD/ID_discovery_cases
Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
1
Severe DD/ID, language impairment, behavioral abnormalities
5 yrs.
Male
34442
0
1
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
317127
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
619373
4
0
4
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
60777
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
119962
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
16461
0
1
1
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
13837
1
0
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
119726
1
0
1
newbury_12_ASD/CAS_discovery_cases
Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
1
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
14 yrs.
Male
199105
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
13837
2
0
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)
353653
1
0
1
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
289222
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
264937
5
0
5
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
14531
0
1
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
49668
6
1
7
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
769963
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
21650
1
1
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
158069
1
0
1
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
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
264937
6
0
6
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chilian_13_DD/ID_discovery_cases
Germany
aCGH
Agilent Human Genome CGH Microarray 244A
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
qPCR/Loss of heterozygosity (LOH)
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)
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
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
newbury_12_ASD/CAS_discovery_cases
European (Caucasian)
aCGH
Agilent 244K
Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
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)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
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
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
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
chilian_13_DD/ID_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability
Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
169237637
169272079
34443
GRCh38
Duplication
No
davis_09_ASD_discovery_cases-AU1334302
NA
NA
Syndromic ASD
Diagnosis: broad spectrum autism. Syndromic autism features: micropthalmia. Family history: father diagnosed with depression, anxiety disorder, and ADHD.
165146678
165463805
317127
Unknown
Deletion
Yes
engchuan_15_ASD_discovery_cases-case1208_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
169232329
169277717
45389
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case17025_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
169791966
170411339
619374
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3272_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
170585783
170643732
57950
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4424_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
169205958
169326715
120758
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1242304
Autism
167829528
167890304
60777
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002251
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
169623984
169744043
120060
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11033.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
168226079
168242540
16462
GRCh38
Duplication
Yes
leblond_12_ASD_replication_cases-Pintocase5237_3
NA
M
Autism
Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
Below average non-verbal IQ (<1st %ile)
169257664
169271500
13837
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-MM0011-003
NA
M
ASD
NA
NA
169207781
169327506
119726
GRCh38
Deletion
Yes
newbury_12_ASD/CAS_discovery_cases-case1
14 yrs.
M
PDD-NOS and CAS
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
167379254
167578359
199106
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case13041_503
NA
M
Autism
Non-verbal
Severe MR
169257664
169271500
13837
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case2230_1
NA
M
Autism
Language delay, no dysmorphic features, fifth finger clinodactyly, obesity, urethral obstruction surgically repaired, bilateral inguinal hernias, chronic ear infections, allergies, no epilepsy, normal brain CT scan
Moderate MR
169257664
169271500
13837
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI3375A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1334303; NDAR ID N/A)
168375524
168729176
353653
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1639-0
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
169930286
170219507
289222
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11145.p1
5.9
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 79; verbal IQ 80
170403362
170411339
7978
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11564.p1
10.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 89; verbal IQ, 106
170403362
170411339
7978
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11946.p1
11
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 37
168473931
168738868
264938
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12603.p1
11.7
M
Autism
NA
Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
170591191
170644110
52920
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13035.p1
4.8
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
170591191
170644110
52920
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
169257706
169272236
14531
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
engchuan_15_ASD_discovery_controls-control110040006132_
N/A
N/A
Control
No previous psychiatric history
170513392
170559406
46015
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB130957_1007853859
N/A
N/A
Control
No previous psychiatric history
170594064
170643732
49669
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB338597_1007875253
N/A
N/A
Control
No previous psychiatric history
169257664
169289068
31405
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB365205_1007853975
N/A
N/A
Control
No previous psychiatric history
169245563
169277717
32155
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB414618_1007854093
N/A
N/A
Control
No previous psychiatric history
169245563
169277717
32155
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB438466_1007853689
N/A
N/A
Control
No previous psychiatric history
169245563
169277717
32155
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901034_901034
N/A
N/A
Control
No previous psychiatric history
168372029
168417547
45519
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split763
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
170037624
170807586
769963
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control11568.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
170146107
170167757
21651
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13885.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
168701016
168714346
13331
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11568.s1
NA
F
Control
NA
NA
170095668
170253736
158069
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11564.s1
6.3
F
Control (matched sibling)
NA
NA
170403362
170411339
7978
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11568.s1
16.7
F
Control (matched sibling)
NA
NA
170095570
170264623
169054
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
170403362
170411339
7978
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11946.s1
12.9
M
Control (matched sibling)
NA
NA
168473931
168738868
264938
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13035.s1
12.8
F
Control (matched sibling)
NA
NA
170591191
170644110
52920
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13128.s1
8.8
M
Control (matched sibling)
NA
NA
167790928
167797682
6755
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chilian_13_DD/ID_discovery_cases-case1
Unknown
Possibly simplex (no info on 1st child)
Unknown
NME7
davis_09_ASD_discovery_cases-AU1334302
qPCR/Loss of heterozygosity (LOH)
Paternal
Multiplex
Segregated
XCL1, XC2, DPT
engchuan_15_ASD_discovery_cases-case1208_3
Unknown
NME7
engchuan_15_ASD_discovery_cases-case17025_1
Unknown
METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,METTL11B,LINC01681,LINC01142,C1orf112,KIFAP3,SCYL3
engchuan_15_ASD_discovery_cases-case3272_4
Unknown
engchuan_15_ASD_discovery_cases-case4424_1
Unknown
NME7
gai_11_ASD_discovery_cases-AU1242304
Inherited
SELP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002251
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SELL,SELP,C1orf112,SELE
krumm_15_ASD_discovery_cases-case11033.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
SFT2D2
leblond_12_ASD_replication_cases-Pintocase5237_3
Maternal
NME7
marshall_08_ASD_discovery_cases-MM0011-003
qPCR, qmPCR
Unknown
NA
NA
NME7
newbury_12_ASD/CAS_discovery_cases-case1
Unknown
Simplex
Unknown (novel in DGV, but often seen in in-house)
AKR1D1P1,CREG1,POU2F1,CD247
pinto_10_ASD_discovery_cases-case13041_503
qPCR
De novo
N/A
NA
NME7
pinto_10_ASD_discovery_cases-case2230_1
qPCR
maternal
NA
NA
NME7
poultney_13_ASD_discovery_cases-case04HI3375A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR557,QRSL1P1,XCL1,XCL2,DPT
sajan_13_ACC/CBLH/PMG_discovery_cases-case1639-0
qPCR
Maternal
Unknown
Unknown
RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,METTL11B,LINC01681,KIFAP3
sanders_11_ASD_discovery_cases-11145.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11564.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11946.p1
Paternal
Simplex (quad-proband matched)
Not segregated
XCL1,XCL2,DPT
sanders_11_ASD_discovery_cases-12603.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13035.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
NME7
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110040006132_
Unknown
GORAB
engchuan_15_ASD_discovery_controls-controlB130957_1007853859
Unknown
engchuan_15_ASD_discovery_controls-controlB338597_1007875253
Unknown
NME7
engchuan_15_ASD_discovery_controls-controlB365205_1007853975
Unknown
NME7
engchuan_15_ASD_discovery_controls-controlB414618_1007854093
Unknown
NME7
engchuan_15_ASD_discovery_controls-controlB438466_1007853689
Unknown
NME7
engchuan_15_ASD_discovery_controls-controlHABC_901034_901034
Unknown
MIR557
kanduri_15_ASD_discovery_controls-control_split763
Unknown
GORAB,KIFAP3,METTL11B,PRRX1
krumm_15_ASD_discovery_controls-control11568.s1
Illumina 1M
Maternal
MIR3119-2,MIR3119-1,METTL11B
krumm_15_ASD_discovery_controls-control13885.s1
Omni2.5-4v1
De novo
DPT
levy_11_ASD_discovery_controls-11568.s1
Maternal
Simplex
NA
SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,METTL11B,LINC01681
sanders_11_ASD_discovery_controls-11564.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11568.s1
Maternal
Simplex (quad)
NA
SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,METTL11B,LINC01681
sanders_11_ASD_discovery_controls-11794.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11946.s1
Paternal
Simplex (quad)
NA
XCL1,XCL2,DPT
sanders_11_ASD_discovery_controls-13035.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13128.s1
Paternal
Simplex (quad)
NA
MPZL1
No Animal Model Data Available