13q13.3CNV Type: Deletion
Largest CNV size: 36980 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
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...
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Duplication
Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.
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
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bitar_19_ASD_discovery_cases
ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
19
Cases diagnosed with ASD using DSM-IV criteria and CARS
N/A
84.21% Male
30000
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
100435
2
0
2
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
49563
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1823895
1
0
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
103777
2
0
2
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
446609
2
0
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
310656
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
12722
2
0
2
miyake_23_ASD_discovery_cases
Cohort of ASD probands consisting of 351 trios, 24 quads, and two quintets included in a multi-center cohort.
405
Cases were clinically diagnosed with ASD based on DSM-V.
NA
69.88% Male
366819
1
0
1
raca_12_CAS_discovery_cases
Patients recruited and consented for a study of pediatric motor speech disorders
2
Childhood apraxia of speech (CAS). Patients assessed using the Madison Speech Assessment Protocol (MSAP). Case 1 reportedly has social difficulties (autistic features), case 2 has ADHD.
NA
NA
310000
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
36980
12
0
12
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
12722
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
242054
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
91066
2
0
2
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
104354
1
0
1
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
4215
9
0
9
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
242054
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bitar_19_ASD_discovery_cases
Lebanon
aCGH
Agilent SurePrint G3 2x400K
ADM-2
Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
qPCR
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kushima_22_ASD_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
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
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
miyake_23_ASD_discovery_cases
Japan
Exome sequencing
Illumina HiSeq 2000/2500
NA
XHMM
qPCR
raca_12_CAS_discovery_cases
NA
aCGH
Roche NimbleGen custom-designed array, Agilent 180K custom array
NimbleScan, SignalMap
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
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
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
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
bitar_19_ASD_discovery_cases-case91
N/A
M
ASD and epilepsy
Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: fear, anxiety, self-injurious behavior. Epilepsy/seizures: epilepsy. Additional medical history: deafness. Family history: born to consanguineous parents (first degree cousins); history of diabetes on both sides of the family, as well as hypertension, high cholesterol, and cardiac disease on the paternal side of the family.
38940342
38970366
30025
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case16055_1571004001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39482000
39554708
72709
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4515_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39158831
39259266
100436
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1762302
Autism
36847152
36896714
49563
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002642
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
37210304
39034199
1823896
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1964
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
39116394
39220170
103777
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case3070
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
39160728
39171034
10307
Unknown
Deletion
No
kushima_22_ASD_discovery_cases-caseASD0240
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
35011653
35113567
101915
GRCh38
Deletion
Yes
kushima_22_ASD_discovery_cases-caseASD0377
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
35060501
35507109
446609
GRCh38
Deletion
Yes
laffin_12_CAS_discovery_cases-case2
3-6 yrs.
NA
CAS
Years of apraxia treatment: 1. Familial status: positive (one or more nuclear family members with a verbal trait disorder including speech disorder, language disorder, reading disorder, cognitive disability, or learning disability). Language impairment: impairments in language onset, comprehension, and expression. Motor impairment: impairment in oral-nonverbal motor assessment tasks.
No cognitive impairment
36732045
37042701
310657
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
37497899
37510620
12722
GRCh38
Deletion
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.
37497899
37510620
12722
GRCh38
Deletion
No
miyake_23_ASD_discovery_cases-case11981
NA
F
ASD
Case clinically diagnosed with ASD based on DSM-V criteria.
35109299
35476117
366819
GRCh38
Deletion
Yes
raca_12_CAS_discovery_cases-case1
NA
NA
Childhood apraxia of speech (CAS) and autistic features
Language assessment (using Oral and Written Language Scales): no impairments in listening comprehension, oral expression, or oral composite (Listening Comprehension score of 100; Oral Expression score of 92; Oral Composite score of 95). Speech processing assessment (using Syllable Repetition Task/SRT): impairments in speech processing and speech production. Oral mechanism evaluation: no impairments in oral structure or function. Motor evaluation: history of gross motor impairment by parent report; no impairment in oral-nonverbal motor function. Developmental evaluation: reported history within typical limits; case on antidepressant medication and has reportedly experienced social difficulties.
Assessment using Kaufman Brief Intelligence Test, 2nd ed.: nonverbal score of 108; verbal performance score of 96; composite IQ score of 103 (within typical limits)
36732045
37042701
310657
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
39545273
39548936
3664
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11121.p1
10.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
38074651
38111631
36981
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11615.p1
12.6
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
38846526
38850741
4216
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11824.p1
8.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
38846526
38850741
4216
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12037.p1
10.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 88
38846526
38850741
4216
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12118.p1
12.6
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
38846526
38850741
4216
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12454.p1
5.5
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
38846526
38850741
4216
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12457.p1
9.6
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 103
37445132
37450824
5693
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12629.p1
4.1
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 113; verbal IQ, 101
38846526
38850741
4216
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12708.p1
10.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
38846526
38850741
4216
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13073.p1
4.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 60; verbal IQ, 25
38846526
38850741
4216
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
38846526
38850741
4216
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
37497899
37510620
12722
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case447
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
35348795
35590848
242054
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-controlHABC_900411_900411
N/A
N/A
Control
No previous psychiatric history
37496412
37544959
48548
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902479_902479
N/A
N/A
Control
No previous psychiatric history
39167155
39258221
91067
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1532
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
35603879
35708232
104354
Unknown
Deletion
No
sanders_11_ASD_discovery_controls-11098.s1
5.7
F
Control (matched sibling)
NA
NA
39545273
39548936
3664
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11161.s1
9.3
F
Control (matched sibling)
NA
NA
38846526
38850741
4216
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11470.s1
12.2
M
Control (matched sibling)
NA
NA
38846526
38850741
4216
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11712.s1
8.6
F
Control (matched sibling)
NA
NA
37449130
37450824
1695
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12351.s1
15.3
F
Control (matched sibling)
NA
NA
38846526
38850741
4216
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
38846526
38850741
4216
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13073.s1
6.6
M
Control (matched sibling)
NA
NA
38846526
38850741
4216
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13083.s1
9.8
F
Control (matched sibling)
NA
NA
38846526
38850741
4216
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13166.s1
5.6
M
Control (matched sibling)
NA
NA
38846526
38850741
4216
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bitar_19_ASD_discovery_cases-case91
qPCR
Maternal
STOML3
engchuan_15_ASD_discovery_cases-case16055_1571004001
Unknown
LHFPL6
engchuan_15_ASD_discovery_cases-case4515_1
Unknown
NXT1P1,LHFPL6
gai_11_ASD_discovery_cases-AU1762302
Inherited
0 genes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002642
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPS12P24,LINC01048,RNA5SP26,LINC00366,PRDX3P3,RNU6-56P,FREM2-AS1,PLA2G12AP2,LINC00547,POSTN,HSPD1P9,UFM1,STOML3,PROSER1,LINC02334,LINC00571,LINC00437,ANKRD26P2,TRPC4,FREM2
kanduri_15_ASD_discovery_cases-case1964
Paternal
Unknown
Unknown
LINC00366 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_cases-case3070
Maternal
Unknown
Unknown
Intergenic CNV: nearest genes, LINC00366(dist=7075),FREM2(dist=90139)
kushima_22_ASD_discovery_cases-caseASD0240
qRT-PCR
Unknown
NBEA
kushima_22_ASD_discovery_cases-caseASD0377
qRT-PCR
Unknown
NBEA,MAB21L1,ZBED9P1
laffin_12_CAS_discovery_cases-case2
Unknown
Multiplex
Unknown
GAPDHP34,TCEAL4P1,ARL2BPP3,NDE1P2,RFXAP,SMAD9-IT1,LAMTOR3P1,RPL29P28,EIF4A1P5,EXOSC8,SMAD9,SUPT20H,ALG5
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
miyake_23_ASD_discovery_cases-case11981
qPCR
Paternal
NBEA,MAB21L1,ZBED9P1
raca_12_CAS_discovery_cases-case1
Unknown
Unknown
Unknown
GAPDHP34,TCEAL4P1,ARL2BPP3,NDE1P2,RFXAP,SMAD9-IT1,LAMTOR3P1,RPL29P28,EIF4A1P5,EXOSC8,SMAD9,SUPT20H,ALG5
sanders_11_ASD_discovery_cases-11098.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LHFPL6
sanders_11_ASD_discovery_cases-11121.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00571
sanders_11_ASD_discovery_cases-11615.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FREM2
sanders_11_ASD_discovery_cases-11824.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
FREM2
sanders_11_ASD_discovery_cases-12037.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FREM2
sanders_11_ASD_discovery_cases-12118.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FREM2
sanders_11_ASD_discovery_cases-12454.p1
Paternal
Simplex (trio)
NA
FREM2
sanders_11_ASD_discovery_cases-12457.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12629.p1
Unknown
Simplex (trio)
NA
FREM2
sanders_11_ASD_discovery_cases-12708.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FREM2
sanders_11_ASD_discovery_cases-13073.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FREM2
sanders_11_ASD_discovery_cases-13083.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FREM2
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
yin_16_ASD_discovery_cases-case447
Unknown
Unknown
Unknown
MAB21L1,NBEA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900411_900411
Unknown
LINC00547
engchuan_15_ASD_discovery_controls-controlHABC_902479_902479
Unknown
NXT1P1,LHFPL6
kanduri_15_ASD_discovery_controls-control_split1532
Unknown
NBEA
sanders_11_ASD_discovery_controls-11098.s1
Maternal
Simplex (quad)
NA
LHFPL6
sanders_11_ASD_discovery_controls-11161.s1
Unknown
Simplex (quad)
NA
FREM2
sanders_11_ASD_discovery_controls-11470.s1
Unknown
Simplex (quad)
NA
FREM2
sanders_11_ASD_discovery_controls-11712.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12351.s1
Unknown
Simplex (quad)
NA
FREM2
sanders_11_ASD_discovery_controls-12674.s1
Unknown
Simplex (quad)
NA
FREM2
sanders_11_ASD_discovery_controls-13073.s1
Maternal
Simplex (quad)
NA
FREM2
sanders_11_ASD_discovery_controls-13083.s1
Maternal
Simplex (quad)
NA
FREM2
sanders_11_ASD_discovery_controls-13166.s1
Paternal
Simplex (quad)
NA
FREM2
No Animal Model Data Available