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22q13.32-q13.33CNV Type: Duplication


Largest CNV size: 607171 bp

Statistics Box:
Number of Reports: 24



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

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            Decipher Symbol

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
NA
Duplication

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
 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
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 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
 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
 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
 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
  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
  NA NA
 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
  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
 
 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
 
 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
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