5q32CNV Type: Deletion-Duplication
Largest CNV size: 39588 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Identification of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of autism.
Deletion
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
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.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
1156
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
115
1
0
1
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
1787000
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
568000
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
61214
1
0
1
gau_12_ASD_discovery_cases
ASD cases recruited from the Children Mental Health Center, Dept. of Psychiatry, Taiwan Univ. Hospital (Taipei, Taiwan), child psychiatric clinics of private hospitals, & special or resource education programs at schools in northern Taiwan.
315
Cases met diagnostic criteria of autistic disorder defined by DSM-IV; clinical diagnosis of autism confirmed using Chinese version of ADI-R.
Range, 3-17 yrs. (mean, 9.08 4.20)
88.25% Male
1800000
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
137816
0
2
2
mulle_13_SCZ_discovery_cases_1
SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
554
Diagnosis of schizophrenia based on meeting DSM-IV citeria
N/A
N/A
641875
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)
2342
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
51423
4
1
5
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
39588
3
3
6
werling_19_ASD_discovery_cases
Children and adolescents with high-functioning autism (defined as IQ 70) recruited at the Departments of Child and Adolescent Psychiatry and Psychotherapy, University Hospitals of Psychiatry Zurich, Switzerland and of the University of Wurzburg, Germany
108
Cases fulfilled diagnostic criteria for ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10; diagnosis confirmed using either ADOS or ADI-R
Range, 5-18 yrs (mean, 11.29 3.3 yrs.)
86.11% Male
638763
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
1786920
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
115
1
0
1
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
0
0
0
0
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
125846
0
2
2
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
1151
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
25480
0
1
1
mulle_13_SCZ_discovery_controls_1
Control subjects selected from three cohorts: a study of Crohn's disease in the Ashkenazim, a study of neuromuscular disease in the Ashkenazim, and the Ashkenazi Jewish Control Registry hosted at Johns Hopkins University.
1014
Control. Control subjects from Crohn's and neuromuscular cohorts were not screened for psychiatric disease; Ashkenazi Jewish Control Registry subjects administered a questionnaire about psychiatric conditions.
N/A
N/A
N/A
N/A
N/A
N/A
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.
26432
0
1
1
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
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
51423
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.
39588
3
2
5
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
1786920
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
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
gau_12_ASD_discovery_cases
Taiwanese
Array SNP
Affymetrix 6.0
Genotyping Console 3.0.2
qPCR
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
mulle_13_SCZ_discovery_cases_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
Solid phase hybridization
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
werling_19_ASD_discovery_cases
Europe
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
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
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
mulle_13_SCZ_discovery_controls_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
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
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
brandler_18_ASD_discovery_cases-caseREACH000495
N/A
F
ASD
Case from REACH cohort
150308291
150309447
1157
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-caseSSC07468
N/A
M
ASD
Case from SSC_phase2 cohort
150156388
150156502
115
GRCh38
Deletion
No
chen_17_ASD_discovery_cases-caseU-2075
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 17 (past score 28); Qualitative abnormalities in verbal and nonverbal communication, current score 12 (past score 18); Qualitative abnormalities in nonverbal communication, current score 4 (past score 10); Restricted, repetitive, and stereotyped patterns of behaviour, current score 8 (past score 10); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 82; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 22. Epilepsy: no history of epilepsy.
Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
145392587
147179506
1786920
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300773
N/A
M
Developmental delay/intellectual disability
146856492
147424983
568492
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3387_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
145178853
145240067
61215
GRCh38
Deletion
No
gau_12_ASD_discovery_cases-case1
18 yrs.
M
Autism
Case clinically diagnosed with autistic disorder and childhood autism based on DSM-IV and ICD-10 diagnostic criteria, respectively, at 2.5 years of age. Clinical assessment and ADI-R evaluation at 16.5 years of age showed that case reached criteria for autistic disorder (autism) as defined by DSM-IV and ICD-10 (ADI-R scores: score of 28 in "qualitative abnormalities in reciprocal social interaction" area, score of 18 in "qualitative abnormalities in communication" area, and score of 10 in "restricted, repetitive, stereotyped patterns of behaviors" area). Case displayed ADHD symptoms (six items of overt inattention and one item of overt hyperactivity-impulsivity symptoms on Chinese version of Swanson, Nolan, and Pelham, version VI scale), but had sub-threshold inattention symptoms and severe functional impairment, thereby failing to meet full DSM-IV diagnostic criteria for ADHD.Developmental milestones: walked alone at 18 months; spoke 1st word other than papa/mama at 5 years; spoke 1st sentence after 10 years. Lanaguage and communication evaluation: language primarily used to express basic needs and not for communication. Behavioral/psychiatric evaluation: non-meaningful verbal outputs, some echolaila, lack of social reciprocity, no direct gaze, no response to verbal stimuli or gestures meant to catach attention, restricted & stereotyped behaviors & activities; high level of hyperactivity, impulsivity, inattention since age of 3 years and lasting until junior high (case had never taken medication to treat these ADHD symptoms). Family history: only child of unrelated parents who did not demonstrate any obvious autistic symptoms or DSM-IV psychopathology; mother (4q12-q13.1 duplication) had sub-threshold ADHD symptoms; father (5q32 deletion) had history of speech delay, gradual hearing impairment in past decade, and may have some autistic traits in the social reciprocity domain.
Due to limited communication ability and lack of response to gestyre or verbal commands, case cannot perform intelligence evaluations (such as Weschler Intelligence Scale for Children-3rd ed.) or other neuropsychological tests. Since 1st evaluation, case received early intervention programs (speech therapy & occupational therapy) at 3-5 years, followed by special education programs at kindergarten for 1 year; case is now an 11th grader of high school specialized for mental retardation & autism.
145392587
147179506
1786920
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11030.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
149730342
149868158
137817
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11381.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
149860894
149886374
25481
GRCh38
Duplication
Yes
mulle_13_SCZ_discovery_cases_1-caseAJ_8962_2
N/A
N/A
Schizophrenia
N/A
N/A
146789948
147431823
641876
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case05HI4647A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1296302; NDAR ID NDAR_INVND601CC9)
150129755
150132096
2342
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case117486L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
146286927
146295686
8760
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case146437L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
146286927
146295686
8760
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case146442L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
143860546
143873024
12479
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case45562
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
146286927
146295686
8760
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case57414
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
144761893
144813315
51423
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11285.p1
15.3
M
Autism
NA
Full-scale IQ, 13; non-verbal IQ, 20; verbal IQ, 5
146529028
146538174
9147
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11407.p1
11.6
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
145301995
145341583
39589
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11476.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 99
147791386
147797762
6377
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11910.p1
5.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 113
145301995
145334581
32587
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
145110987
145115832
4846
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12481.p1
5.6
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 47; verbal IQ, 37
145301995
145334581
32587
GRCh38
Duplication
No
werling_19_ASD_discovery_cases-caseA35W
9 yrs.
M
ASD
Case diagnosed with ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10 (F84.0); diagnosis confirmed using either ADOS or ADI-R (ADOS score 12; ADI-R A/B/C/D scores 19/12/6/3)
IQ score 111 (WISC-III)
146790278
147429040
638763
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case234
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
145392587
147179506
1786920
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
brandler_18_ASD_replication_controls-controlSSC07486
N/A
F
control
Control from SSC_phase2 cohort
150156388
150156502
115
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB983717_1007842477
N/A
N/A
Control
No previous psychiatric history
145783592
145909438
125847
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902762_902762
N/A
N/A
Control
No previous psychiatric history
147357312
147395912
38601
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control13601.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13601. SRS score of 40.
148118985
148120136
1152
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11381.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
149860894
149886374
25481
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C27962
Control
146902632
146929063
26432
Unknown
Duplication
sanders_11_ASD_discovery_controls-11773.s1
14.3
M
Control (matched sibling)
NA
NA
145110987
145115832
4846
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12044.s1
8.8
M
Control (matched sibling)
NA
NA
145110987
145115832
4846
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12481.s1
9
M
Control (matched sibling)
NA
NA
145301995
145334581
32587
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12955.s1
9.5
M
Control (matched sibling)
NA
NA
146927699
146935830
8132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13175.s1
13.7
F
Control (matched sibling)
NA
NA
145301995
145341583
39589
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseREACH000495
PCR
De novo
ARSI
brandler_18_ASD_replication_cases-caseSSC07468
No validation step reported
Maternal
chen_17_ASD_discovery_cases-caseU-2075
RT-qPCR
Paternal
Simplex
RNU7-180P,POU4F3,GPR151,RNA5SP196,RN7SL791P,KRT8P48,PLAC8L1,TCERG1,PPP2R2B-IT1,GRXCR2,SH3RF2,LARS,RBM27,PRELID2,PPP2R2B
digregorio_17_DD/ID_discovery_cases-DECIPHER_300773
Unknown
PPP2R2B-IT1,STK32A-AS1,STK32A,DPYSL3,PPP2R2B
engchuan_15_ASD_discovery_cases-case3387_4
Unknown
ASS1P10
gau_12_ASD_discovery_cases-case1
qPCR
Paternal
Simplex
RNU7-180P,POU4F3,GPR151,RNA5SP196,RN7SL791P,KRT8P48,PLAC8L1,TCERG1,PPP2R2B-IT1,GRXCR2,SH3RF2,LARS,RBM27,PRELID2,PPP2R2B
krumm_15_ASD_discovery_cases-case11030.p1
Illumina 1M
Paternal
Simplex
Segregated
MIR378A,PDE6A,PPARGC1B
krumm_15_ASD_discovery_cases-case11381.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
PDE6A
mulle_13_SCZ_discovery_cases_1-caseAJ_8962_2
Solid phase hybridization
Unknown
Unknown
Unknown
PPP2R2B-IT1,STK32A-AS1,STK32A,DPYSL3,PPP2R2B
poultney_13_ASD_discovery_cases-case05HI4647A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PDGFRB
prasad_12_ASD_discovery_cases-case117486L
Unknown
Unknown
Unknown
PPP2R2B
prasad_12_ASD_discovery_cases-case146437L
Unknown
Unknown
Unknown
PPP2R2B
prasad_12_ASD_discovery_cases-case146442L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case45562
Unknown
Unknown
Unknown
PPP2R2B
prasad_12_ASD_discovery_cases-case57414
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11285.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11407.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11476.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11910.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12044.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12481.p1
Paternal
Simplex (quad-proband matched)
Not segregated
werling_19_ASD_discovery_cases-caseA35W
Unknown
PPP2R2B-IT1,STK32A-AS1,STK32A,DPYSL3,PPP2R2B
yin_16_ASD_discovery_cases-case234
Unknown
Unknown
Unknown
RNU7-180P,POU4F3,GPR151,RNA5SP196,RN7SL791P,KRT8P48,PLAC8L1,TCERG1,PPP2R2B-IT1,GRXCR2,SH3RF2,LARS,RBM27,PRELID2,PPP2R2B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC07486
No validation step reported
Maternal
engchuan_15_ASD_discovery_controls-controlB983717_1007842477
Unknown
GRXCR2,PRELID2
engchuan_15_ASD_discovery_controls-controlHABC_902762_902762
Unknown
STK32A,DPYSL3
krumm_13_ASD_discovery_controls-control13601.s1
Maternal
Simplex
SPINK5
krumm_15_ASD_discovery_controls-control11381.s1
Illumina 1M
Paternal
PDE6A
nord_11_ASD_discovery_controls-04C27962
0 genes
sanders_11_ASD_discovery_controls-11773.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12044.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12481.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12955.s1
Paternal
Simplex (quad)
NA
PPP2R2B
sanders_11_ASD_discovery_controls-13175.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available