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19q13.12CNV Type: Deletion


Largest CNV size: 118792 bp

Statistics Box:
Number of Reports: 12



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
De novo rates and selection of large copy number variation.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
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
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
NA
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 digregorio_17_DD/ID_discovery_cases
  NA NA
 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
 129000
 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
 35568
 1
 0
 1
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 31096
 1
 0
 1
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 78619
 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
 723513
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 118792
 1
 0
 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
 12356
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 394303
 1
 0
 1
 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)
 1181314
 0
 8
 8
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 153701
 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
 15010
 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
 100071
 0
 2
 2

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
 31492
 2
 0
 2
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 443613
 1
 0
 1
 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
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 41827
 1
 0
 1
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 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)
 773080
 4
 2
 6
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 47008
 2
 1
 3
 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
 100071
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 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
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 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
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 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
 
 
 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
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
  aCGH (Agilent 244K)
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  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
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299930
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 37062906
 37192292
  129387
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20154_1642001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 37220754
 37256322
  35569
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case685-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 37281998
 37313094
  31097
 GRCh38
 Deletion
 No
  itsara_10_ASD_discovery_cases-HI4632
 NA
 NA
 Autism
 NA
 NA
 37539780
 37618400
  78621
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003802
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 36439647
 37163160
  723514
 GRCh38
 Deletion
 Yes
  levy_11_ASD_discovery_cases-11937.p1
 NA
 M
 ASD
 NA
 NA
 37186992
 37305783
  118792
 GRCh38
 Deletion
 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
 35358591
 35370946
  12356
 GRCh38
 Deletion
 No
  nord_11_ASD_discovery_cases-270-1
 
 
 ASD
 
 
 41685778
 42080080
  394303
 Unknown
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case04HI2957A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
 
 36151460
 36656543
  505084
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI3174A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
 
 36936744
 37363777
  427034
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case98HI0668A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU023504; NDAR ID N/A)
 
 35744321
 35748758
  4438
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0671A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU033403; NDAR ID NDAR_INVFP134WLL)
 
 35744321
 35748758
  4438
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 35742596
 35748758
  6163
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0868A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU002003; NDAR ID NDAR_INVXV984GE7)
 
 35744010
 35748758
  4749
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0922A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
 
 36182464
 37363777
  1181314
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0933A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
 
 36182464
 37363777
  1181314
 GRCh38
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_241
 3 mos.
 M
 Developmental delay
 Dysmorphic facial features, microsomia, heart murmur
 Global developmental delay
 37304875
 37458575
  153701
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11071.p1
 13.9
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
 35170884
 35182340
  11457
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11206.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
 36420098
 36435108
  15011
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case549
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 36261761
 36361831
  100071
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case550
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 36424129
 36483016
  58888
 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-controlB407753_1007874851
  N/A
  N/A
  Control
  No previous psychiatric history
 
  36880830
  36912322
  31493
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900577_900577
  N/A
  N/A
  Control
  No previous psychiatric history
 
  37685647
  37716731
  31085
  GRCh38
  Deletion
  No
  girirajan_11_ASD_discovery_controls-NIMH_309
  NA
  NA
  Control
  NA
  NA
  36470237
  36913850
  443614
  GRCh38
  Deletion
  No
  levy_11_ASD_discovery_controls-11193.s1
  NA
  F
  Control
  NA
  NA
  37424167
  37465993
  41827
  GRCh38
  Deletion
  Yes
  poultney_13_ASD_discovery_controls-control05C40490A
  N/A
  M
  Control
  NIMH Control (NIMH ID 47570)
 
  36609913
  36951090
  341178
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C43347
  N/A
  F
  Control
  NIMH Control (NIMH ID 27459)
 
  36182464
  36892473
  710010
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C43347
  N/A
  F
  Control
  NIMH Control (NIMH ID 27459)
 
  36936744
  37709824
  773081
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44563
  N/A
  F
  Control
  NIMH Control (NIMH ID 10056)
 
  36609913
  36720670
  110758
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C44568
  N/A
  M
  Control
  NIMH Control (NIMH ID 81083)
 
  36818431
  36937244
  118814
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-controlNA12891
  N/A
  M
  Control
  Control from CEPH
 
  36638653
  36825621
  186969
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11193.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  37426790
  37473798
  47009
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11962.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  36357555
  36359320
  1766
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12231.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  36285218
  36292854
  7637
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299930
 
 
 De novo
 
 
 ZNF585A,ZNF585B,ZNF420
 
 engchuan_15_ASD_discovery_cases-case20154_1642001
 
 
 Unknown
 
 
 LINC01535,ZNF383
 
 gazzellone_14_ASD_discovery_cases-case685-3
 
 
 Unknown
 Unknown
 Unknown
 HKR1
 
 itsara_10_ASD_discovery_cases-HI4632
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 ZNF793,ZNF571-AS1,ZNF540,ZNF571,ZFP30
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003802
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CTBP2P7,LINC01534,RPL31P61,ZNF566,ZNF260,ZNF529-AS1,ZNF382,ZNF461,ZNF850,ZNF790-AS1,ZNF345,ZNF829,ZNF585A,ZNF529,ZNF790,ZNF568,ZNF420,ZNF567
 
 levy_11_ASD_discovery_cases-11937.p1
 
 
 De novo
 Simplex
 Segregated
 ZNF585B,LINC01535,ZNF383
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 FFAR3,GPR42
 
 nord_11_ASD_discovery_cases-270-1
 PCR
 
 De novo
 
 
 ZNF260,ZNF345,ZNF382,ZNF461,ZNF529,ZNF567,ZNF790,ZNF829
 
 poultney_13_ASD_discovery_cases-case04HI2957A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 COX7A1,CTBP2P7,ZNF565,ZNF146,LINC00665,ZFP14,ZFP82,ZNF566,ZNF260,ZNF529-AS1,ZNF382,ZNF461,ZNF529
 
 poultney_13_ASD_discovery_cases-case04HI3174A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF585A,ZNF585B,LINC01535,ZNF568,ZNF420,ZNF383,HKR1
 
 poultney_13_ASD_discovery_cases-case98HI0668A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 U2AF1L4,PSENEN,LIN37
 
 poultney_13_ASD_discovery_cases-case99HI0671A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 U2AF1L4,PSENEN,LIN37
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 U2AF1L4,PSENEN,LIN37
 
 poultney_13_ASD_discovery_cases-case99HI0868A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 U2AF1L4,PSENEN,LIN37
 
 poultney_13_ASD_discovery_cases-case99HI0922A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CTBP2P7,LINC01534,RPL31P61,ZNF565,ZNF146,LINC00665,ZFP14,ZFP82,ZNF566,ZNF260,ZNF529-AS1,ZNF382,ZNF461,ZNF850,ZNF790-AS1,ZNF345,ZNF829,ZNF585A,ZNF585B,LINC01535,ZNF529,ZNF790,ZNF568,ZNF420,ZNF383,HKR1,ZNF567
 
 poultney_13_ASD_discovery_cases-case99HI0933A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CTBP2P7,LINC01534,RPL31P61,ZNF565,ZNF146,LINC00665,ZFP14,ZFP82,ZNF566,ZNF260,ZNF529-AS1,ZNF382,ZNF461,ZNF850,ZNF790-AS1,ZNF345,ZNF829,ZNF585A,ZNF585B,LINC01535,ZNF529,ZNF790,ZNF568,ZNF420,ZNF383,HKR1,ZNF567
 
 quintela_17_DD/ID_discovery_cases-caseID_241
 
 
 Unknown
 
 Unknown
 ZNF527,ZNF569,HKR1
 
 sanders_11_ASD_discovery_cases-11071.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11206.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 yin_16_ASD_discovery_cases-case549
 
 
 Unknown
 Unknown
 Unknown
 LINC00665,ZFP14
 
 yin_16_ASD_discovery_cases-case550
 
 
 Unknown
 Unknown
 Unknown
 ZNF566
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB407753_1007874851
 
 
  Unknown
 
 
  RPL31P61,ZNF345,ZNF829
 
engchuan_15_ASD_discovery_controls-controlHABC_900577_900577
 
 
  Unknown
 
 
  SELENOKP1,ZNF781,ZNF607,ZFP30
 
girirajan_11_ASD_discovery_controls-NIMH_309
 
 
  Unknown
 
 
  CTBP2P7,LINC01534,RPL31P61,ZNF566,ZNF260,ZNF529-AS1,ZNF382,ZNF461,ZNF850,ZNF790-AS1,ZNF345,ZNF829,ZNF529,ZNF790,ZNF567
 
levy_11_ASD_discovery_controls-11193.s1
  aCGH (Agilent 244K)
 
  De novo
  Simplex
  NA
  ZNF569
 
poultney_13_ASD_discovery_controls-control05C40490A
 
 
  Unknown
 
 
  LINC01534,RPL31P61,ZNF382,ZNF461,ZNF850,ZNF790-AS1,ZNF345,ZNF829,ZNF790,ZNF568,ZNF567
 
poultney_13_ASD_discovery_controls-control05C43347
 
 
  Unknown
 
 
  CTBP2P7,LINC01534,ZNF565,ZNF146,LINC00665,ZFP14,ZFP82,ZNF566,ZNF260,ZNF529-AS1,ZNF382,ZNF461,ZNF850,ZNF790-AS1,ZNF345,ZNF829,ZNF529,ZNF790,ZNF567
 
poultney_13_ASD_discovery_controls-control05C43347
 
 
  Unknown
 
 
  SELENOKP1,ZNF585A,ZNF585B,LINC01535,ZNF527,ZNF569,ZNF793-AS1,ZNF793,ZNF571-AS1,ZNF540,ZNF571,ZNF781,ZNF607,ZNF568,ZNF420,ZNF383,HKR1,ZNF570,ZFP30
 
poultney_13_ASD_discovery_controls-control05C44563
 
 
  Unknown
 
 
  LINC01534,ZNF382,ZNF461,ZNF850,ZNF567
 
poultney_13_ASD_discovery_controls-control05C44568
 
 
  Unknown
 
 
  RPL31P61,ZNF790-AS1,ZNF345,ZNF829,ZNF790,ZNF568
 
poultney_13_ASD_discovery_controls-controlNA12891
 
 
  Unknown
 
 
  LINC01534,ZNF461,ZNF850,ZNF790-AS1,ZNF790,ZNF567
 
sanders_11_ASD_discovery_controls-11193.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ZNF569,ZNF570
 
sanders_11_ASD_discovery_controls-11962.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ZFP14
 
sanders_11_ASD_discovery_controls-12231.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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