1q23.3CNV Type: Deletion-Duplication
Largest CNV size: 159734 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
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
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Duplication
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
2863
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
50000
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
266709
1
3
4
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
448456
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
229279
1
1
2
leblond_19_ASD_discovery_cases
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
36
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
N/A
77.78% Male
269400
0
1
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
10755
1
0
1
li_18_ASD_discovery_cases
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
13
Diagnosis of ASD made according to DSM-IV
Mean age, 4.56 0.97 years
92.31% Male
102959
0
1
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
120577
2
0
2
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
35914
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
159734
18
2
20
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
374653
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
12947
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
41599
8
2
10
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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_19_ASD_discovery_cases
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
li_18_ASD_discovery_cases
Chinese
Low-coverage WGS
Illumina HiSeq 2000 or 2500 analyzers
PSCC
None
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
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
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
brandler_18_ASD_discovery_cases-caseREACH000747
N/A
M
ASD
Case from REACH cohort
163473313
163476176
2864
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_296424
N/A
M
Developmental delay/intellectual disability
160962372
161008956
46585
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13180_1973
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
161677017
161711078
34062
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)
162989989
163162844
172856
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2176_101
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
163733776
163803218
69443
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5468_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
163638040
163905239
267200
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001229
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
160866658
161315114
448457
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004536
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
161513195
161671153
157959
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13882.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
162154404
162383683
229280
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14227.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
160739301
160752248
12948
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_cases-casePN400117
N/A
M
ASD
Diagnosis of Asperger syndrome. Behavioral/psychiatric evaluation: tics. Additional medical history: gynecomastia.
161098571
161367971
269401
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
164366847
164377601
10755
GRCh38
Deletion
No
li_18_ASD_discovery_cases-case6001
N/A
M
ASD
Diagnosis of ASD made according to DSM-IV
161558995
161661954
102960
GRCh38
Duplication
No
pfundt_16_nonNDD_discovery_cases-case119
N/A
N/A
Non-NDD
Disease cohort: complex phenotype. Description: FCGR2C FCGR2B deletion
161549696
161670273
120578
GRCh38
Deletion
No
pfundt_16_nonNDD_discovery_cases-case143
N/A
N/A
Non-NDD
Disease cohort: immunology disorder/immunodeficiency. Description: FCGR3A deletion
161509819
161549799
39981
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1189-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.
Developmental delay: yes. Intellectual disability: unknown.
161675165
161711078
35914
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11161.p1
7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
161079568
161084264
4697
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11165.p1
5.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 112; verbal IQ 89
162974674
162986720
12047
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11333.p1
9.8
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
160904201
160930359
26159
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11707.p1
13.5
M
Autism
NA
Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
161079568
161083983
4416
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11922.p1
11.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
160572777
160581802
9026
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
162733892
162757121
23230
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12144.p1
4.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
161828449
161902981
74533
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
161732973
161733735
763
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12252.p1
7.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
162733892
162757121
23230
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12375.p1
15.9
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 93; verbal IQ, 85
162186196
162203605
17410
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12418.p1
13.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
161079568
161083983
4416
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
165314233
165317952
3720
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12497.p1
4.6
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 63; verbal IQ, 49
161768273
161928007
159735
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12582.p1
6.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
161768273
161909394
141122
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12956.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
162733892
162763619
29728
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13056.p1
4.6
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
165315065
165320148
5084
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13083.p1
7.5
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
161784012
161909394
125383
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13089.p1
8.4
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 88; verbal IQ, 48
164744918
164746972
2055
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13226.p1
8.7
M
ASD
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
162733892
162763619
29728
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13233.p1
13.6
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
162733892
162763619
29728
GRCh38
Deletion
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-controlB250058_1007852610
N/A
N/A
Control
No previous psychiatric history
160886286
160974794
88509
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB640901_1007854138
N/A
N/A
Control
No previous psychiatric history
161321533
161433241
111709
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901193_901193
N/A
N/A
Control
No previous psychiatric history
163882386
164257039
374654
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control14227.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
160739301
160752248
12948
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11494.s1
19.3
M
Control (matched sibling)
NA
NA
162186196
162209357
23162
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11917.s1
4.3
F
Control (matched sibling)
NA
NA
162974674
162982789
8116
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11922.s1
13.4
M
Control (matched sibling)
NA
NA
160572777
160581802
9026
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
162186196
162209357
23162
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
162733892
162763619
29728
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
161732973
161733735
763
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12418.s1
11.7
M
Control (matched sibling)
NA
NA
161079568
161084264
4697
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
165314233
165317952
3720
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13089.s1
11.1
F
Control (matched sibling)
NA
NA
164744918
164746972
2055
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13301.s1
12.3
M
Control (matched sibling)
NA
NA
162919468
162961067
41600
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseREACH000747
SNP VCF
De novo
digregorio_17_DD/ID_discovery_cases-DECIPHER_296424
qPCR
Paternal (translocation)
F11R
engchuan_15_ASD_discovery_cases-case13180_1973
Unknown
RPL31P11,FCGR2B,FCRLA
engchuan_15_ASD_discovery_cases-case14410_5190
Unknown
RGS4
engchuan_15_ASD_discovery_cases-case2176_101
Unknown
engchuan_15_ASD_discovery_cases-case5468_3
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001229
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ITLN1,ITLN2,USF1,KLHDC9,DEDD,USP21,B4GALT3,APOA2,TOMM40L,MIR5187,MPZ,F11R,TSTD1,ARHGAP30,PFDN2,NIT1,UFC1,PPOX,ADAMTS4,NDUFS2,NR1I3,PCP4L1,NECTIN4,FCER1G,SDHC
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004536
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HSPA6,RPS23P10,HSPA7,RPS23P9,FCGR2A,FCGR3A,FCGR2C,FCGR3B,FCGR2B
krumm_15_ASD_discovery_cases-case13882.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
MIR4654,RNA5SP61,MIR556,SPATA46,C1orf226,NOS1AP
krumm_15_ASD_discovery_cases-case14227.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
SLAMF7
leblond_19_ASD_discovery_cases-casePN400117
Unknown
Simplex
Unknown
KLHDC9,DEDD,USP21,B4GALT3,APOA2,TOMM40L,MIR5187,MPZ,PFDN2,NIT1,UFC1,PPOX,ADAMTS4,NDUFS2,NR1I3,PCP4L1,CFAP126,FCER1G,SDHC
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
li_18_ASD_discovery_cases-case6001
De novo
Simplex
Possibly segregated
HSPA7,RPS23P9,FCGR2C,FCGR3B
pfundt_16_nonNDD_discovery_cases-case119
HSPA7,RPS23P9,FCGR3A,FCGR2C,FCGR3B,FCGR2B
pfundt_16_nonNDD_discovery_cases-case143
HSPA6,RPS23P10,FCGR2A,FCGR3A
sajan_13_ACC/CBLH/PMG_discovery_cases-case1189-0
qPCR
Maternal
Unknown
Unknown
RPL31P11,FCGR2B,FCRLA
sanders_11_ASD_discovery_cases-11161.p1
Unknown
Simplex (quad-proband matched)
Segregated
NECTIN4
sanders_11_ASD_discovery_cases-11165.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11333.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11707.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NECTIN4
sanders_11_ASD_discovery_cases-11922.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CD84
sanders_11_ASD_discovery_cases-12033.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DDR2
sanders_11_ASD_discovery_cases-12144.p1
Maternal
Simplex (trio)
NA
ATF6
sanders_11_ASD_discovery_cases-12198.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12252.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DDR2
sanders_11_ASD_discovery_cases-12375.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NOS1AP
sanders_11_ASD_discovery_cases-12418.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NECTIN4
sanders_11_ASD_discovery_cases-12424.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LMX1A
sanders_11_ASD_discovery_cases-12497.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ATF6
sanders_11_ASD_discovery_cases-12582.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATF6
sanders_11_ASD_discovery_cases-12956.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DDR2
sanders_11_ASD_discovery_cases-13056.p1
Unknown
Simplex (trio)
NA
LMX1A
sanders_11_ASD_discovery_cases-13083.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ATF6
sanders_11_ASD_discovery_cases-13089.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PBX1
sanders_11_ASD_discovery_cases-13226.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DDR2
sanders_11_ASD_discovery_cases-13233.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DDR2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB250058_1007852610
Unknown
ITLN2
engchuan_15_ASD_discovery_controls-controlB640901_1007854138
Unknown
RRM2P2,RNU6-481P,CFAP126,SDHC
engchuan_15_ASD_discovery_controls-controlHABC_901193_901193
Unknown
krumm_15_ASD_discovery_controls-control14227.s1
Omni2.5-4v1
Maternal
SLAMF7
sanders_11_ASD_discovery_controls-11494.s1
Maternal
Simplex (quad)
NA
NOS1AP
sanders_11_ASD_discovery_controls-11917.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11922.s1
Maternal
Simplex (quad)
NA
CD84
sanders_11_ASD_discovery_controls-11981.s1
Paternal
Simplex (quad)
NA
NOS1AP
sanders_11_ASD_discovery_controls-12033.s1
Maternal
Simplex (quad)
NA
DDR2
sanders_11_ASD_discovery_controls-12198.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12418.s1
Unknown
Simplex (quad)
NA
NECTIN4
sanders_11_ASD_discovery_controls-12424.s1
Maternal
Simplex (quad)
NA
LMX1A
sanders_11_ASD_discovery_controls-13089.s1
Paternal
Simplex (quad)
NA
PBX1
sanders_11_ASD_discovery_controls-13301.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available