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13q13.3CNV Type: Deletion


Largest CNV size: 36980 bp

Statistics Box:
Number of Reports: 10



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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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

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
 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
 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
 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
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 12722
 0
 1
 1
 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
 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
 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
 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
 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
 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
 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
 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
 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
 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
 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
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3
 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 (n=334) or Illumina 1M v3 (n=840)
 PennCNV, QuantiSNP, & GNOSIS
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, and/or solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, and/or Agilent 1M
 
 
 None
 laffin_12_CAS_discovery_cases
  NA
 aCGH
  Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
 
 CytoSure Interpret V3.4.3
 None
 raca_12_CAS_discovery_cases
  NA
 aCGH
  Roche NimbleGen custom-designed array (case 1), Agilent 180K custom array (case 2)
 
 NimbleScan and SignalMap (case 1)
 None
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K or 180K, Affymetrix 6
 
 Agilent DNA Analytics (aCGH); Birdsuite, iPattern, and Genotyping Console (array SNP)
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
 Affymetrix Genotyping Console v4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, & GNOSIS
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
  Affymetrix Genotyping Console v4.1
  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
  gai_11_ASD_discovery_cases-AU1762302
 
 
 Autism
 
 
 36847152
 36896714
  49563
 
 Duplication
 No
  sanders_11_ASD_discovery_cases-11098.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
 39017410
 39021073
  3663
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11121.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
 37546788
 37583768
  36980
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11615.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
 38318663
 38322878
  4215
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11824.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
 38318663
 38322878
  4215
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12037.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 88
 38318663
 38322878
  4215
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12118.p1
 12
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
 38318663
 38322878
  4215
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12454.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
 38318663
 38322878
  4215
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12457.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 103
 36917269
 36922961
  5692
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12629.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 113; verbal IQ, 101
 38318663
 38322878
  4215
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12708.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
 38318663
 38322878
  4215
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13073.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 60; verbal IQ, 25
 38318663
 38322878
  4215
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13083.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
 38318663
 38322878
  4215
 hg18
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002642
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 36682441
 38506336
  1823895
 NCBI36
 Deletion
 Yes
  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)
 36970036
 36982757
  12722
 hg18
 Duplication
 No
  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
 36204182
 36514838
  310656
 NCBI Build 36.1/hg18
 Duplication
 No
  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)
 36204182
 36514838
  310000
 NCBI Build 36.1/hg18
 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
 36970036
 36982757
  12722
 Build36/hg18
 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.
 36970036
 36982757
  12722
 Build36/hg18
 Deletion
 No
  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)
 
 38954137
 39026845
  72708
 hg18
 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)
 
 38630968
 38731403
  100435
 hg18
 Deletion
 No
  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
 N/A
 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
 N/A
 Deletion
 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.
 
 35922932
 36164985
  242054
 GRCh37/hg19
 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
  sanders_11_ASD_discovery_controls-11098.s1
  5
  F
  Control (matched sibling)
  NA
  NA
  39017410
  39021073
  3663
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11161.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  38318663
  38322878
  4215
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11470.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  38318663
  38322878
  4215
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11712.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  36921267
  36922961
  1694
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12351.s1
  15
  F
  Control (matched sibling)
  NA
  NA
  38318663
  38322878
  4215
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12674.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  38318663
  38322878
  4215
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13073.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  38318663
  38322878
  4215
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13083.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  38318663
  38322878
  4215
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13166.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  38318663
  38322878
  4215
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902479_902479
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38639292
  38730358
  91066
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900411_900411
  N/A
  N/A
  Control
  No previous psychiatric history
 
  36968549
  37017096
  48547
  hg18
  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
  N/A
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 gai_11_ASD_discovery_cases-AU1762302
 
 
 Inherited
 
 
 0 genes
 
 sanders_11_ASD_discovery_cases-11098.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LHFP intronic
 
 sanders_11_ASD_discovery_cases-11121.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 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
 0 genes
 
 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
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002642
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 POSTN,TRPC4,UFM1,FREM2,STOML3,PROSER1
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 0 genes
 
 laffin_12_CAS_discovery_cases-case2
 
 
 Unknown
 Multiplex
 Unknown
 RFXAP,SMAD9,ALG5,EXOSC8,FAM48A
 
 raca_12_CAS_discovery_cases-case1
 
 
 Unknown
 Unknown
 Unknown
 RFXAP,SMAD9,ALG5,EXOSC8,FAM48A
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 0 genes
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 
 
 Unknown
 Simplex
 Unknown
 0 genes
 
 engchuan_15_ASD_discovery_cases-case16055_1571004001
 
 
 Unknown
 
 
 LHFP
 
 engchuan_15_ASD_discovery_cases-case4515_1
 
 
 Unknown
 
 
 0 genes
 
 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)
 
 yin_16_ASD_discovery_cases-case447
 
 
 Unknown
 Unknown
 Unknown
 NBEA,MIR548F5
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LHFP intronic
 
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
  0 genes
 
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
 
engchuan_15_ASD_discovery_controls-controlHABC_902479_902479
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900411_900411
 
 
  Unknown
 
 
  0 genes
 
kanduri_15_ASD_discovery_controls-control_split1532
 
 
  Unknown
 
 
  NBEA
 

No Animal Model Data Available
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