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18q21.32CNV Type: Deletion-Duplication


Largest CNV size: 45398 bp

Statistics Box:
Number of Reports: 10


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
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
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 201
 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
 148924
 2
 4
 6
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 532328
 0
 1
 1
 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
 
 
 20174
 3
 0
 3
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 24310
 1
 0
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 42762
 0
 1
 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)
 13540
 0
 1
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 34605
 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
 45398
 9
 8
 17
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 800000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_controls
 Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
 630
 Control
 N/A
 N/A
 1299054
 0
 1
 1
 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
 369452
 1
 7
 8
 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)
 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.
 
 834928
 9
 9
 18

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 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
 
 None
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by 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
 
 
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_discovery_controls
  N/A
  WGS
  Illumina HiSeq X10 or HiSeq 2500
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  PCR, array SNP
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  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
 
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
  qPCR

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  celestino-soper_11_ASD_discovery_cases-11186
 NA
 M
 ASD
 NA
 NA
 58862902
 58863103
  202
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14374_4870
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60733745
 60806177
  72433
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18164_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60595369
 60645984
  50616
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case18168_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60600610
 60643371
  42762
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case21022_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60600610
 60646008
  45399
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3431_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60569340
 60718264
  148925
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4393_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 60600610
 60645984
  45375
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000014
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S18
 N/A
 60557580
 61089908
  532329
 GRCh38
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1194302
 
 
 Autism
 
 
 60433566
 60453739
  20174
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1194303
 
 
 Autism
 
 
 60433566
 60453739
  20174
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1251302
 
 
 Autism
 
 
 60433566
 60453739
  20174
 GRCh38
 Deletion
 No
  nord_11_ASD_discovery_cases-315-1
 
 
 ASD
 
 
 56252229
 56276538
  24310
 Unknown
 Deletion
 No
  pinto_14_ASD_discovery_cases2-case18168_302
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 60600610
 60643371
  42762
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case99HI0682A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU021204; NDAR ID NDAR_INVTR068FMZ)
 
 58734305
 58747844
  13540
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1077-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
 Developmental delay: yes. Intellectual disability: no.
 59210257
 59244861
  34605
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11129.p1
 4.7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
 59985517
 59996583
  11067
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11214.p1
 15.5
 M
 ASD
 NA
 Full-scale IQ, 93; non-verbal IQ, 100; verbal IQ, 83
 60448003
 60453739
  5737
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11258.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 96
 60433566
 60460755
  27190
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11694.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
 60600610
 60643371
  42762
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11825.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
 60605580
 60643371
  37792
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11834.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46
 60600610
 60643371
  42762
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12101.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 38
 60433566
 60460755
  27190
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12185.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
 60433566
 60460755
  27190
 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
 60250802
 60256247
  5446
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12363.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
 59624593
 59643376
  18784
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12363.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
 60600610
 60646008
  45399
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12417.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
 60600610
 60643371
  42762
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12518.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 83
 59985517
 59996583
  11067
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12518.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 83
 60450196
 60453739
  3544
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12798.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
 60215892
 60260637
  44746
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13080.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 104; verbal IQ, 121
 60450196
 60453739
  3544
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13136.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
 59985517
 59996583
  11067
 GRCh38
 Duplication
 No
  tzetis_12_DD/ID_discovery_cases-case81
 
 F
 DD/ID
 Scaphocephaly, short forehead, right thumb dysgenesis, body hypotonia, hypertonicity of extremities, heart defects, ompholocele, secondary interauricular communication
 
 59682975
 60451153
  768179
 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
  brandler_18_ASD_discovery_controls-controlSSC06581
  N/A
  M
  Control
  Control from SSC cohort
 
  59730892
  61029945
  1299054
  GRCh38
  Duplication
  Yes
  engchuan_15_ASD_discovery_controls-control110036018406_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60506052
  60875504
  369453
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB391087_1007840223
  N/A
  N/A
  Control
  No previous psychiatric history
 
  59007759
  59055712
  47954
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB419502_1007871739
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60600610
  60646008
  45399
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB641961_1007872279
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60600610
  60647019
  46410
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB834607_0067942618
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60605580
  60646008
  40429
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB916240_1007854325
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60038756
  60125977
  87222
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB921878_0067943241
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60600610
  60645984
  45375
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900071_900071
  N/A
  N/A
  Control
  No previous psychiatric history
 
  59986398
  60246201
  259804
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11227.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  60433566
  60453739
  20174
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11239.s1
  15.1
  M
  Control (matched sibling)
  NA
  NA
  59985517
  59996583
  11067
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11694.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  60600610
  60643371
  42762
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11720.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  60433566
  60453739
  20174
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12101.s1
  5.1
  M
  Control (matched sibling)
  NA
  NA
  60433566
  60453739
  20174
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12225.s1
  16.4
  M
  Control (matched sibling)
  NA
  NA
  60839787
  60841804
  2018
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12252.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  60250802
  60256247
  5446
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12255.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  60450196
  60453739
  3544
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12316.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  60433566
  60460755
  27190
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12363.s1
  21.9
  M
  Control (matched sibling)
  NA
  NA
  60600610
  60643371
  42762
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12518.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  59985517
  59996583
  11067
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12596.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  60926956
  60990093
  63138
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12748.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  60605580
  60643371
  37792
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13023.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  59730896
  60108063
  377168
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-13023.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  60183122
  61018050
  834929
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-13088.s1
  13.8
  F
  Control (matched sibling)
  NA
  NA
  59985517
  59996583
  11067
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13136.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  59985517
  59996583
  11067
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13166.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  60976211
  60990093
  13883
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 celestino-soper_11_ASD_discovery_cases-11186
 
 
 Unknown
 Simplex
 NA
 ZNF532
 
 engchuan_15_ASD_discovery_cases-case14374_4870
 
 
 Unknown
 
 
 HMGN1P31
 
 engchuan_15_ASD_discovery_cases-case18164_302
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case18168_302
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case21022_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3431_3
 
 
 Unknown
 
 
 CTBP2P3
 
 engchuan_15_ASD_discovery_cases-case4393_1
 
 
 Unknown
 
 
 
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000014
 
 
 De novo
 Unknown
 Unknown
 CTBP2P3,HMGN1P31
 
 gai_11_ASD_discovery_cases-AU1194302
 
 
 Inherited
 
 
 
 
 gai_11_ASD_discovery_cases-AU1194303
 
 
 Inherited
 
 
 
 
 gai_11_ASD_discovery_cases-AU1251302
 
 
 Inherited
 
 
 
 
 nord_11_ASD_discovery_cases-315-1
 
 
 Maternal
 
 
 0 genes
 
 pinto_14_ASD_discovery_cases2-case18168_302
 qPCR
 
 Paternal
 Simplex
 no affected sib
 
 
 poultney_13_ASD_discovery_cases-case99HI0682A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MALT1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1077-0
 qPCR (CNV not detected)
 
 Biparental/Diploid copy number
 Unknown
 Unknown
 GRP
 
 sanders_11_ASD_discovery_cases-11129.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11214.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11258.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11694.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11825.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11834.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12101.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12185.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12252.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12363.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CCBE1
 
 sanders_11_ASD_discovery_cases-12363.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12417.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12518.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12518.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12798.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13080.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13136.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 tzetis_12_DD/ID_discovery_cases-case81
 
 
 Unknown
 Unknown
 
 RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,CCBE1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC06581
  SNP VCF
 
  De novo
 
 
  RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31
 
engchuan_15_ASD_discovery_controls-control110036018406_
 
 
  Unknown
 
 
  MRPS5P4,CTBP2P3,HMGN1P31
 
engchuan_15_ASD_discovery_controls-controlB391087_1007840223
 
 
  Unknown
 
 
  OACYLP
 
engchuan_15_ASD_discovery_controls-controlB419502_1007871739
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB641961_1007872279
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB834607_0067942618
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB916240_1007854325
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB921878_0067943241
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900071_900071
 
 
  Unknown
 
 
  SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P
 
sanders_11_ASD_discovery_controls-11227.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11239.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11694.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11720.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12101.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12225.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12252.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12255.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12316.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12363.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12518.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12596.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12748.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13023.s1
  qPCR
 
  De Novo
  Simplex (quad)
  NA
  RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P
 
sanders_11_ASD_discovery_controls-13023.s1
  qPCR
 
  De Novo
  Simplex (quad)
  NA
  MC4R,MRPS5P4,CTBP2P3,HMGN1P31
 
sanders_11_ASD_discovery_controls-13088.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13136.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13166.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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