22q13.32-q13.33CNV Type: Duplication
Largest CNV size: 607171 bp
Statistics Box:
Number of Reports: 26
Number of Reports: 26
Summary Information
Duplications that span from the 22q13.32 locus to the 22q13.33 locus have been observed in individuals with ASD in two studies.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
High rate of disease-related copy number variations in childhood onset schizophrenia.
Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
Deletion
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Duplication
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
Deletion
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ahn_13_SCZ_discovery_cases
Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs
126
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.
N/A
N/A
1654000
0
1
1
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
2000000
1
0
1
bui_24_ASD_discovery_cases
Vietnamese ASD probands from trio families who were diagnosed at Vinmec International Hospital from January 1st, 2017 to 31st December 31st, 2018 who were screened from de novo copy number variants.
100
Cases were diagnosed with autism spectrum disorder by Diagnostic and Statistical Manual of Mental Disorders (DSM) version 4 or 5, Autism Diagnostic Observation Schedule (ADOS) and Childhood Autism Rating Scale (CARS).
Range, 3-18 yrs. (average, 6.91 yrs.)
83.00% Male
2389408
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
1800000
0
1
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
276000
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
1516369
1
3
4
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
635573
0
3
3
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
276581
1
0
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
2636999
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
2326986
3
1
4
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
923600
0
1
1
leblond_14_ASD_discovery_cases
ASD cases recruited by PARIS (Paris Autism Research International Sibpair) study at specialized centers located in France and Sweden; 85% of cases from simplex ASD families; male-female ratio of 3.6:1.
306
ASD: ADI-R (or DISCO-10), ADOS, DSM-IV-TR; IQ: Wechsler, RPM, PPVT; exclusion criteria: syndromic autism, known cytogenetic abnormalities, Fragile X syndrome
N/A
78.26% Male
1500000
1
0
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
600000
0
3
3
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
1872000
1
0
1
levchenko_22_DD/ID_discovery_cases
Individuals with non-specific intellectual developmental disorder from the Research Centre for Medical Genetics consulted from 2017 to 2020.
198
Cases presented with non-specific intellectual developmental delay (DD/ID).
Range, 6 mos.-65 yrs.
63.63% Male
2583776
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
601528
0
1
1
moreira_14_ASD/EP_discovery_cases
ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
531
ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
N/A
N/A
2270000
1
0
1
pham_14_ASD/DD/EP/ID_discovery_cases
Consecutive patient samples submitted to the Medical Genetics Laboratories at Baylor College of Medicine for CMA analysis from Jun 2009-Feb. 2011. Note: CNVs identified in this report were somatic mosaic in nature.
10362
Indication for CMA provided for 8898 cases; 5138 patients with clinical indication of cognitive impairment (primarily developmental delay, intellectual disability, and autism)
N/A
N/A
4932000
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
607171
0
1
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
1516370
1
0
1
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
592000
0
1
1
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
1700000
1
0
1
soorya_13_ASD/ID_discovery_cases
Serially ascertained sample of patients with SHANK3 deficiency evaluated over an 18-month period.
32
27/32 (84%) of cases met criteria for ASD; evaluation for ASD made using ADI-R and ADOS-G. 29/30 cases with some degree of intellectual disability (77% with severe-to-profound ID); evaluation for ID made using Mullen Scales of Early Learning (27 cases), Stanford-Binet Intelligence Scales, 5th ed. (1 case), and Leiter-R (2 cases).
Range, 1.6-45.4 yrs. (mean 8.8, SD 9.2)
56.25% Male
2779250
7
0
7
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)
2300000
1
0
1
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
2100000
1
0
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
1799794
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ahn_13_SCZ_discovery_controls
Full siblings of probands without diagnosis of neurodevelopmental disorder (19 full siblings from original cohort of 117 full siblings were excluded due to diagnoses of schizophrenia, autism, intellectual disability, or bipolar disorder)
98
Control
N/A
N/A
N/A
N/A
N/A
N/A
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
607170
0
1
1
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
276581
N/A
N/A
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
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
0
0
0
0
leblond_14_ASD_discovery_controls
Control samples from France and Sweden; male-female ratio 1.05:1
454
France: healthy volunteers, interviewed with DIGS and FIGS to confirm absence of both personal and family history of psychiatric disorders in first- and second-degress relatives. Sweden: recruited in a study of obesity and body fat distribution; no known personal or family history of ASD
N/A
51.22% Male
0
0
0
0
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
592000
0
0
0
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
1799794
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ahn_13_SCZ_discovery_cases
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
array SNP, aCGH, qPCR
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
bui_24_ASD_discovery_cases
Vietnam
aCGH
Agilent SurePrint G3
ADM-2
Agilent Feature Extraction Software v.11.5.1.1
qPCR
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
Yes
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
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
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
leblond_14_ASD_discovery_cases
70% Caucasian, 3.6% mixed, 1.3% African, 1.3% Asian, 23.8% unknown
Solid phase hybridization
Illumina Human 1M-Duo BeadChip
QuantiSNP
qPCR
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
levchenko_22_DD/ID_discovery_cases
Russia
Array SNP
Affymetrix CytoScan HD, Affymetrix CytoScan XON
NA
NA
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
moreira_14_ASD/EP_discovery_cases
Ethnically-mixed Brazilian
MLPA
Array SNP
pham_14_ASD/DD/EP/ID_discovery_cases
N/A
aCGH
BCM V8 OLIGO array
FISH, chromosome analysis
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
soorya_13_ASD/ID_discovery_cases
Caucasian
Karyotyping, FISH, aCGH, array SNP, solid phase hybridization
Affymetrix 6.0
MLPA, solid phase hybridization (Illumina Omni 2.5-8 v1)
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
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
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
ahn_13_SCZ_discovery_controls
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
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
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
leblond_14_ASD_discovery_controls
100% Caucasian
Solid phase hybridization
Illumina Human 1M-Duo BeadChip
QuantiSNP
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
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
ahn_13_SCZ_discovery_cases-NSB_ID676
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
49121500
50772191
1650692
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case14
16 yrs. 3 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Moderate DD/ID
48654199
50683114
2028916
GRCh38
Deletion
Yes
bui_24_ASD_discovery_cases-caseASD047
8 yrs.
M
ASD
Birth/neonatal history: normal pregnancy and delivery. Language and communicatione evaluation: poor communication skills defined by poor eye contact, expressionless face, lack of expressive speech. Behavioral/psychiatric evaluation: diagnosed with autism (ICD-10 F84.0, DSM 5 level 3, ADOS 22/12, CARS 49.5).
Diagnosed with intellectual disability (ICD-10 F70)
48350429
50739836
2389408
GRCh38
Deletion
Yes
chen_17_ASD_discovery_cases-caseU-2239
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 13 (past score 21); Qualitative abnormalities in verbal and nonverbal communication, current score 11 (past score 16); Qualitative abnormalities in nonverbal communication, current score 4 (past score 8); Restricted, repetitive, and stereotyped patterns of behaviour, current score 7 (past score 7); Abnormality of development evident at or before 36 months, past score 4. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 75; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 23. Epilepsy: no history of epilepsy.
Performance IQ 72, Verbal IQ 57, Full-scale IQ 62
48992889
50750066
1757178
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_299970
N/A
M
Developmental delay/intellectual disability
48975945
49251397
275453
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14155_2540
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48998499
49607833
609335
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14345_4590
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49409938
49607833
197896
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5036_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48998499
49607833
609335
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6130_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49214231
50727236
1513006
GRCh38
Deletion
Yes
gai_11_ASD_replication_cases-AU003404
Autism
47785419
48403238
617820
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU003405
Autism
47785419
48420991
635573
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU017905
Autism
47713629
48334254
620626
Unknown
Duplication
No
girirajan_13a_ASD_discovery_cases-13722.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
49244292
49523150
278859
GRCh38
Deletion
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-144-03
N/A
M
ASD and intellectual disability
Phelan-McDermid syndrome
Intellectual disability
48120201
50757200
2637000
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001059
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
49020386
49672085
651700
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002585
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
49395349
50738932
1343584
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004359
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
48423668
50739836
2316169
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004934
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
48654672
50739836
2085165
GRCh38
Deletion
Yes
kousoulidou_13_ASD_discovery_cases-patient7
N/A
M
ASD
High-functioning ASD
48591391
49517758
926368
GRCh38
Duplication
Yes
leblond_14_ASD_discovery_cases-caseAU029
N/A
F
ASD and ID
Autism
Severe intellectual disability
49215407
50718505
1503099
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU003404
N/A
F
ASD
49003188
49623352
620165
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU003405
N/A
M
ASD
49003188
49623352
620165
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU017904
N/A
M
ASD
48935188
49537351
602164
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-caseDY34
NA
M
Epilepsy + autistic features
Phenotype: s-CSWSS. Seizure Characteristics: Awake absences. Autistic features: Yes (severe). ADHD features: Yes. Other features: Right frontal/temporal/insular cortical thickening. Dysmorphism..
Initial cognitive development: Delayed. Cognitive regression: No.
48950885
50780581
1829697
GRCh38
Deletion
Yes
levchenko_22_DD/ID_discovery_cases-caseD904
9 yrs.
M
Developmental delay/intellectual disability
Case presented with non-specific intellectual developmental disorder. Motor and musculoskeletal evaluation: hypotonia, varus feet. Brain imaging: hypoplasia of the cerebellum. Dysmorphic features: narrow forehead, moderately upturned nose, macrotomia, low-set ears, transverse palmar crease.
48175635
50759410
2583776
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0123-004
NA
M
ASD
Moderate language delay, very severe repetitive behavior, Hirschsprung disease
IQ 93
49000627
49604319
603693
GRCh38
Duplication
Yes
moreira_14_ASD/EP_discovery_cases-case11
14 yrs.
M
ASD and epilepsy
Language and communication evaluation: absent speech. Epilepsy/seizures: yes. Other features: kyphosys. Dysmorphic features: none reported. Growth parameters: height of 145.5 cm (<3rd %ile), weight of 38 kg (5th %ile), and head circumference of 51.5 cm (<3rd %ile).
48637421
50755252
2117832
GRCh38
Deletion
Yes
pham_14_ASD/DD/EP/ID_discovery_cases-case49
4 yrs.
F
Developmental delay
Indication for study: moderate developmental delay.
48548977
50697019
2148043
GRCh38
Mosaic deletion
Yes
pinto_10_ASD_discovery_cases-case5036_4
NA
M
Autism
Below average language (1%ile), no epilepsy, no dysmorphic features; triplet with 2 nonASD brothers
Average nonverbal IQ (32%ile)
48998499
49607833
609335
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case6130_4
N/A
F
ASD
Autism, non verbal; neonatal hypotonia, gastro-esophageal reflux, regression at 20 mo, no dysmorphic features; developed hirsutism, obesity and leg dystonia in adolescence, with negative endocrine and neurological evaluations; brain MRI showed cortical atrophy, especially in posterior regions; no epilepsy. Family history: both parents unaffected.
Severe ID
49214231
50727236
1513006
GRCh38
Deletion
Yes
reinthaler_14_EP_discovery_cases-caseGGRE13
N/A
M
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
49000601
49595167
594567
GRCh38
Duplication
No
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase26
4 yrs.
F
Learning disability (developmental delay/intellectual disability)
Dysmorphism
49171267
50806138
1634872
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH1
7.9
M
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 21; B (communication), 13; C (RRBIS), 5. ADOS-G Module 1 scores: communication total, 7; social total, 12; communication + social, 19; RRBI, 6; severity score, 10. VABS-II scores: ABC, 57; communication, 54; socialization, 59; daily living, 54; motor, 59. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, hyperactivity, GERD, sleep disturbances, constipation/diarrhea, renal abnormalities, food allergies. Dysmorphic features: high arched palate, syndactyly of toes 2-3, accelerated growth.
Profound ID; non-verbal IQ 6.31
48531736
50785780
2254045
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH11
4.1
F
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 19; B (communication), 10; C (RRBIS), 2. ADOS-G Module 1 scores: communication total, 4; social total, 7; communication + social, 11; RRBI, 4; severity score, 6. VABS-II scores: ABC, 57; communication, 52; socialization, 63; daily living, 58; motor, 64. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, hyperactivity, sleep disturbances, constipation/diarrhea, seasonal allergies, strabismus. Dysmorphic features: long eyelashes, epicanthal folds, hypertelorism, microcephaly.
Severe ID; non-verbal IQ 30.86
48632920
50785780
2152861
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH19
8.3
M
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 26; B (communication), 14; C (RRBIS), 5. ADOS-G Module 1 scores: communication total, 5; social total, 13; communication + social, 18; RRBI, 5; severity score, 10. VABS-II scores: ABC, 47; communication, 40; socialization, 53; daily living, 50; motor, 59. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, hyperactivity, recurring URTIs, food allergies. Dysmorphic features: large fleshy hands, bulbous nose, hypoplastic/dysplastic nails, full lips, periorbital fullness, malocclusion/wide spaced teeth.
Profound ID; non-verbal IQ 18.92
48156172
50767773
2611602
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH2
19.2
M
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 24; B (communication), 9; C (RRBIS), 1. ADOS-G Module 1 scores: communication total, 3; social total, 5; communication + social, 8; RRBI, 1; severity score, 4. VABS-II scores: ABC, 34; communication, 33; socialization, 45; daily living, 33; motor, 59. Clinical profile and medical comorbidities: repetitive behavior, hypotonia, hyperactivity, aggression, recurring URTIs, seasonal allergies. Dysmorphic features: ear anomalies, full lips, dolichocephaly, high arched palate, malocclusion/wide spaced teeth.
Profound ID; non-verbal IQ 10.43
48049142
50785780
2736639
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH3
5
M
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 17; B (communication), 13; C (RRBIS), 4. ADOS-G Module 1 scores: communication total, 4; social total, 11; communication + social, 15; RRBI, 6; severity score, 8. VABS-II scores: ABC, 53; communication, 54; socialization, 57; daily living, 51; motor, 59. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, hyperactivity, aggression, GERD, renal abnormalities, reactive airway syndrome. Dysmorphic features: bulbous nose, ear anomalies, hyperextensibility, long philtrum, 5th finger clinodactyly.
Profound ID; non-verbal IQ 19.83
48718618
50785780
2067163
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH30
3.7
F
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 21; B (communication), 11; C (RRBIS), 4. ADOS-G Module 1 scores: communication total, 6; social total, 12; communication + social, 18; RRBI, 4; severity score, 8. VABS-II scores: ABC, 57; communication, 57; socialization, 61; daily living, 66; motor, 67. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia. Dysmorphic features: bulbous nose, periorbital fullness, pointed chin, malar hypoplasia.
Profound ID; non-verbal IQ 15.7
48608583
50785780
2177198
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH9
4.6
F
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 23; B (communication), 14; C (RRBIS), 6. ADOS-G Module 1 scores: communication total, 7; social total, 14; communication + social, 21; RRBI, 2; severity score, 9. VABS-II scores: ABC, 45; communication, 40; socialization, 55; daily living, 43; motor, 51. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, GERD, recurring URTIs, constipation/diarrhea. Dysmorphic features: hypoplastic/dysplastic nails, epicanthal folds, hyperextensibility, abnormal spine curvature.
Profound ID; non-verbal IQ 10.87
48632920
50785780
2152861
GRCh38
Deletion
Yes
tzetis_12_DD/ID_discovery_cases-case55
F
DD/ID
Minor dysmorphic features, severely delayed speech, joint laxity
48528638
50780581
2251944
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case38
13 yrs.
M
Phelan-McDermid syndrome
Severe ASD, absent speech, seizures, global developmental delay
48663681
50759410
2095730
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case632
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
48992889
50750066
1757178
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-controlB907712_1007852916
N/A
N/A
Control
No previous psychiatric history
48998499
49607833
609335
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_controls2-control5
N/A
N/A
Control
N/A
N/A
49244292
49523150
278859
GRCh38
Unknown
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
ahn_13_SCZ_discovery_cases-NSB_ID676
array SNP, aCGH, and/or qPCR
De novo
Unknown
Unknown
RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
battaglia_13_DD/ID/ASD_discovery_cases-case14
FISH or qPCR
De novo
Unknown
Unknown
MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
bui_24_ASD_discovery_cases-caseASD047
qPCR
De novo
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,TTLL8,CHKB-CPT1B,MIR3667HG,IL17REL,ODF3B,DENND6B,PIM3,RPL35P8,SYCE3,RPL5P35,LINC01310,CHKB-DT,MIR3667,MIR4535,MAPK11,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,RNU6-409P,ZBED4,SCO2,PPP6R2,BRD1,TAFA5,PLXNB2,MLC1,MAPK8IP2
chen_17_ASD_discovery_cases-caseU-2239
RT-qPCR
Unknown
RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
digregorio_17_DD/ID_discovery_cases-DECIPHER_299970
Unknown
RPL35P8
engchuan_15_ASD_discovery_cases-case14155_2540
Unknown
RPL35P8,MIR3667,C22orf34
engchuan_15_ASD_discovery_cases-case14345_4590
Unknown
MIR3667,C22orf34
engchuan_15_ASD_discovery_cases-case5036_4
Unknown
RPL35P8,MIR3667,C22orf34
engchuan_15_ASD_discovery_cases-case6130_4
De novo
RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
gai_11_ASD_replication_cases-AU003404
Inherited
C22orf34
gai_11_ASD_replication_cases-AU003405
Inherited
C22orf34
gai_11_ASD_replication_cases-AU017905
Inherited
0 genes
girirajan_13a_ASD_discovery_cases-13722.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
C22orf34
guo_18_ASD/DD/ID_discovery_cases-caseBK-144-03
aCGH, Sanger sequencing
De novo
Simplex
Segregated
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001059
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL35P8,MIR3667,C22orf34
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002585
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004359
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004934
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kousoulidou_13_ASD_discovery_cases-patient7
qPCR
Maternal
Unknown
Unknown
MIR4535,RPL35P8,FAM19A5,LINC01310,C22orf34
leblond_14_ASD_discovery_cases-caseAU029
qPCR
De novo
Simplex
Segregated
MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
leppa_16_ASD_discovery_cases-AU003404
Maternal
Multiplex
Segregated (CNV present in both affected siblings, not present in unaffected siblings)
RPL35P8,MIR3667,C22orf34
leppa_16_ASD_discovery_cases-AU003405
Maternal
Multiplex
Segregated (CNV present in both affected siblings, not present in unaffected siblings)
RPL35P8,MIR3667,C22orf34
leppa_16_ASD_discovery_cases-AU017904
Maternal
Multiplex
Not segregated (CNV not present in affected siblings)
RPL35P8,C22orf34
lesca_12_EP_discovery_cases-caseDY34
qPCR
Unknown (not maternal)
Unknown
Unknown
RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
levchenko_22_DD/ID_discovery_cases-caseD904
Unknown
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,TTLL8,RPL23AP82,CHKB-CPT1B,MIR3667HG,IL17REL,ODF3B,DENND6B,PIM3,RPL35P8,SYCE3,RPL5P35,LINC01310,CHKB-DT,MIR3667,MIR3201,MIR4535,MAPK11,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,RNU6-409P,ZBED4,SCO2,PPP6R2,BRD1,TAFA5,PLXNB2,MLC1,MAPK8IP2
marshall_08_ASD_discovery_cases-SK0123-004
qPCR, qmPCR
Maternal
Multiplex
NA
RPL35P8,MIR3667,C22orf34
moreira_14_ASD/EP_discovery_cases-case11
Array SNP
De novo
Unknown
Unknown
MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
pham_14_ASD/DD/EP/ID_discovery_cases-case49
FISH and/or chromosome analysis
Unknown
Unknown
Unknown
MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
pinto_10_ASD_discovery_cases-case5036_4
Agilent1M
maternal
Multiplex (sib with Aspberger)
NA
RPL35P8,MIR3667,C22orf34
pinto_14_ASD_discovery_cases2-case6130_4
qPCR, MLPA
De novo
Simplex
Likely segregated (1 healthy sister, no DNA)
RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
reinthaler_14_EP_discovery_cases-caseGGRE13
Unknown
Unknown
Unknown
RPL35P8,MIR3667,C22orf34
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase26
BACs aCGH or FISH
De novo
Unknown
Unknown
RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH1
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
Unknown (not maternal)
MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH11
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH19
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
Unknown (not paternal)
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH2
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH3
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH30
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
Unknown (not paternal)
MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH9
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
tzetis_12_DD/ID_discovery_cases-case55
Unknown
Unknown
MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
xu_16_ASD/DD/ID_discovery_cases-case38
Unknown
MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
yin_16_ASD_discovery_cases-case632
Unknown
Unknown
Unknown
RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB907712_1007852916
Unknown
RPL35P8,MIR3667,C22orf34
girirajan_13a_ASD_discovery_controls2-control5
Unknown
C22orf34
No Animal Model Data Available