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Xp11.4CNV Type: Deletion-Duplication


Largest CNV size: 220328 bp

Statistics Box:
Number of Reports: 30



Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplica...
Duplication
Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variation characteristics in subpopulations of patients with 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
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.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Deletion
NA
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
NA
Duplication
NA
Duplication
NA
Duplication
Presynaptic dysfunction in CASK-related neurodevelopmental disorders
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 asadollahi_14_NDD_discovery_cases
 Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
 714
 Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
 N/A
 N/A
 472000
 1
 0
 1
 bacchelli_20_ASD_discovery_cases
  NA NA
 Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
 128
 Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
 N/A
 82.81% Male
 133948
 0
 1
 1
 becker_20_EP/ID_discovery_cases
 Female with a classical presentation of MICPCH syndrome caused by a de novo Xp11.4 duplication within the CASK gene who was recruited to the study from The Roots of Autism and ADHD study in Sweden (RATSS) and Clinical Genetics at the Karolinska University Hospital
 1
 Case presented with intellectual disability and epilepsy
 NA
 Female
 54853
 0
 1
 1
 bremer_11_ASD_discovery_cases
 223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
 223
 25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
 
 71.3% Male
 160000
 0
 1
 1
 cai_08_ASD_discovery_cases
 Unrelated individuals with autism or ASD recruited by SARC and/or AGRE
 279
 270 cases diagnosed with autism, 2 with Asperger's, 1 with PDD-NOS, 3 with not quite autism (NQA), 3 with broad spectrum autism
 Mean 7.94 yrs
 79.6% Male
 129000
 0
 2
 2
 calderoni_20_ASD_discovery_cases
  NA NA
 Females referred consecutively to the Autism Spectrum Disorders Unit of the Children Neuropsychiatry Hospital between 2015 and 2016
 90
 Clinical diagnosis of ASD based on DSM-5 criteria
 Range, 21 mos.-17 yrs.
 Female
 137218
 0
 1
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 4098
 2
 0
 2
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 142000
 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
 220328
 0
 11
 11
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 18188
 0
 1
 1
 hnoonual_17_ASD_discovery_cases
 Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
 114
 68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
 Range, 1-18 years (at time of recruitment)
 79.82% Male
 111000
 0
 1
 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
 589666
 2
 6
 8
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 279250
 0
 5
 5
 lee_17_ASD/DD/ID/MCA_discovery_cases
 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
 42
 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
 Range, newborn-38 yrs.
 69.05% Male
 16224
 1
 0
 1
 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
 172000
 0
 1
 1
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
 Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
 89985
 64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
 N/A
 N/A
 140140
 0
 1
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 112000
 0
 1
 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
 
 
 121003
 0
 1
 1
 monteiro_19_ASD_discovery_cases
  NA NA
 Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
 253
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
 N/A
 76.68% Male
 877000
 0
 1
 1
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 114128
 0
 1
 1
 munnich_19_ASD_discovery_cases
 Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
 502
 Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
 < 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
 69.92% Male
 405000
 1
 0
 1
 noor_09_ASD_discovery_cases
 Autistic male from a family from Newfoundland, Canada; patient was previously described in a Marshall et al. 2008 CNV report (patient was identified as NA0112-000 in this report).
 1
 ASD
 NA
 Male
 121000
 0
 1
 1
 pfundt_16_nonNDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1430
 Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
 N/A
 N/A
 66557
 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
 134000
 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
 
 
 139403
 0
 3
 3
 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
 345324
 0
 4
 4
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 219482
 0
 2
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 220328
 6
 2
 8
 willemsen_12_DD/ID_discovery_cases
 Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
 4407
 Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
 2/3 of cases: age range of 1-18 yrs.
 54.5% Male
 50000
 0
 2
 2
 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
 92000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bacchelli_20_ASD_discovery_controls
  NA NA
 Anonymized DNA samples from Italian individuals with no psychiatric disorders
 365
 Control
 N/A
 54.52% Male
 0
 0
 0
 0
 cai_08_ASD_discovery_controls
 Controls
 248
 Controls
 
 70.2% Male
 129000
 0
 6
 6
 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
 629721
 0
 10
 10
 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
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 135891
 0
 3
 3
 leblond_19_ASD_discovery_controls
 Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
 321
 Control
 N/A
 N/A
 41510
 0
 1
 1
 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
 noor_09_ASD_discovery_controls
 Control cohort previously used in a Marshall et al. 2008 CNV report (German PopGen project and entries from Database of Genomic Variants, and non-disease controls from Ontario population)
 1652
 Control
 NA
 NA
 121000
 0
 0
 0
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 166171
 0
 1
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 219482
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 220328
 6
 2
 8

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 asadollahi_14_NDD_discovery_cases
  Predominantly European
 Array SNP
  Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
 HMM
 Affymetrix ChAS v.1.0.1
 MLPA
 bacchelli_20_ASD_discovery_cases
  Italian
 Solid phase hybridization
  Illumina Infinium PsychArray
 PennCNV, QuantiSNP, CNVPartition
 
 None
 becker_20_EP/ID_discovery_cases
  Sweden
 aCGH
  NA
 
 
 None
 bremer_11_ASD_discovery_cases
  Swedish
 aCGH
  BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
 
 
 MLPA, FISH
 cai_08_ASD_discovery_cases
  205 Caucasian, 6 African-American, 24 Hispanic or Latino, 5 Asian, 11 mixed ethnicity, 28 unknown
 MLPA
  ABI 3130 genetic analyzer (Applied Biosystem)
 
 GeneMarker
 Direct DNA sequencing qPCR, FISH
 calderoni_20_ASD_discovery_cases
  Italy
 aCGH
  Agilent 8x60K
 
 
 qPCR
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 hnoonual_17_ASD_discovery_cases
  Thai
 Solid phase hybridization
  Illumina Infinium CytoSNP-850K v1.1 BeadChip
 
 BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
 None
 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
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 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
 None
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP, solid phase hybridization
  Multiple platforms (Agilent, Affymetrix, Illumina)
 
 
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 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
 monteiro_19_ASD_discovery_cases
  Portuguese
 aCGH
  Agilent SurePrint G3 4x180K
 
 Agilent Cytogenomics
 None
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 munnich_19_ASD_discovery_cases
  France
 aCGH, karyotyping
  Agilent 60K
 
 
 FISH
 noor_09_ASD_discovery_cases
  Canadian
 Array SNP
  Affymetrix Nsp, Affymetrix Syt
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 pfundt_16_nonNDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 MLPA, MAQ
 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
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 willemsen_12_DD/ID_discovery_cases
  Netherlands
 aCGH, array SNP
  Agilent 32K BAC array, Affymetrix 250K
 
 CNAG V2.0 (SNP array)
 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

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  bacchelli_20_ASD_discovery_controls
  Italian
  Solid phase hybridization
  Illumina Infinium PsychArray
  PennCNV, QuantiSNP, CNVPartition
 
  None
  cai_08_ASD_discovery_controls
  Caucasian
  qPCR
  ABI Prism 7900 HT (Applied Biosystem)
 
  Sequence Detection
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  leblond_19_ASD_discovery_controls
  Faroe Islands
  Solid phase hybridization, WES
  Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
  PennCNV, QuantiSNP
  XHMM
  None
  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
 
 
  noor_09_ASD_discovery_controls
  European
  Array SNP
  Affymetrix Nsp, Affymetrix Syt
 
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  asadollahi_14_NDD_discovery_cases-case69234
 2 yrs.
 F
 Developmental delay
 Developmental delay, hypotonia, microcephaly, minor morphological abnormalities
 
 41480414
 41952263
  471850
 GRCh38
 Deletion
 Yes
  bacchelli_20_ASD_discovery_cases-caseAB133
  NA NA
 N/A
 F
 ASD
 ASD on ADOS; absence of expressive language; normal brain MRI and EEG
 
 38631591
 38765538
  133948
 GRCh38
 Duplication
 No
  becker_20_EP/ID_discovery_cases-caseFam2-p1
 NA
 F
 Intellectual disability and epilepsy
 Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: scoliosis. Epilepsy/seizures: infantile spasms, epilepsy. Brain imaging: pontocerebellar hypoplasia, optic nerve hypoplasia.
 Intellectual disability
 41710324
 41765176
  54853
 GRCh38
 Duplication
 No
  bremer_11_ASD_discovery_cases-case38
 4
 M
 ASD
 Syndromic ASD, sporadic case
 IQ>70
 38625530
 38785380
  159851
 GRCh38
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU032904
 NA
 M
 Autism
 NA
 NA
 
 
  129000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU038703
 NA
 F
 Broad spectrum
 NA
 NA
 
 
  129000
 Unknown
 Duplication
 Yes
  calderoni_20_ASD_discovery_cases-caseP1
  NA NA
 7 yrs. 9 mos.
 F
 ASD
 Language and communication evaluation: verbal.
 IQ 70
 38632286
 38769503
  137218
 GRCh38
 Duplication
 Yes
  celestino-soper_11_ASD_discovery_cases-11338
 NA
 M
 ASD
 NA
 NA
 40712130
 40714016
  1887
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11418
 NA
 M
 ASD
 NA
 NA
 37841724
 37845822
  4099
 GRCh38
 Deletion
 No
  egger_14_ASD_discovery_cases-caseA207
 22 yrs. (born 1992)
 M
 ASD
 Diagnosis: early infantile autism. Comorbidities/additional features: pre-term birth (week 26), spastic diplegia, central sight disorder. Family history: none reported.
 Cognitive impairment (IQ 60-80)
 38627366
 38770193
  142828
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13027_353
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 37929771
 38150099
  220329
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13054_643
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 37929771
 38150099
  220329
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1960_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 38631591
 38770993
  139403
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20033_1227001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 38631591
 38770993
  139403
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20141_1396001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 38631591
 38770993
  139403
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3065_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 38631591
 38780603
  149013
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4152_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 40516158
 40628610
  112453
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4457_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 38631591
 38770993
  139403
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5419_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 41697302
 41734306
  37005
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5524_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 38631591
 38770993
  139403
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6034_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 38631591
 38770993
  139403
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER258154
 N/A
 F
 Developmental delay
 Microcephaly; Developmental regression; Global developmental delay; Hearing impairment; Diabetes mellitus; Aplasia/Hypoplasia of the cerebellum; Abnormality of the brainstem; Delayed CNS myelination
 
 41650472
 41668660
  18189
 GRCh38
 Duplication
 No
  hnoonual_17_ASD_discovery_cases-caseRA11
 N/A
 M
 ASD and intellectual disability
 No additional clinical features
 Intellectual disability
 41393582
 41504583
  111002
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001712
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 38631752
 38769503
  137752
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001817
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 40375929
 40810369
  434441
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001870
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 38631752
 38769503
  137752
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001908
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 38631752
 38769503
  137752
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002681
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 41534941
 41915080
  380140
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003803
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 41615487
 41836444
  220958
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004248
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 41630750
 41807553
  176804
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004827
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 39666120
 40255787
  589668
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11220.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 40588985
 40630773
  41789
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13162.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 37847480
 38126730
  279251
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13512.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38033889
 38125506
  91618
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13911.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 38666120
 38687667
  21548
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14407.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 38666120
 38687667
  21548
 GRCh38
 Duplication
 Yes
  lee_17_ASD/DD/ID/MCA_discovery_cases-case4
 9 yrs.
 M
 Intellectual disability
 
 Intellectual disability
 41561116
 41577340
  16225
 GRCh38
 Deletion
 No
  lesca_12_EP_discovery_cases-case13-19
 NA
 M
 Epilepsy
 Phenotype: i-CSWSS. Seizure Characteristics: Awakening, CSSG. Autistic features: No. ADHD features: Yes. Other features: None.
 Initial cognitive development: Normal. Cognitive regression: No. Verbal IQ 110, performance IQ 109 (at 7 years of age)
 42243422
 42415759
  172338
 GRCh38
 Duplication
 No
  lionel_13_ASD/ADHD/DD/ID_discovery_cases-case47
 14 months
 F
 Septo-optic dysplasia
 Septo-optic dysplasia, overgrowth hormone abnormality.
 
 38629364
 38769503
  140140
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown222
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 40521327
 40634037
  112711
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-NA0112-000
 NA
 M
 ASD
 NA
 NA
 38634861
 38755862
  121002
 GRCh38
 Duplication
 Yes
  monteiro_19_ASD_discovery_cases_case29
  NA NA
 N/A
 M
 ASD
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: normal (no developmental delay). Dysmorphic features: none reported.
 Normal (no intellectual disability)
 41727729
 42604874
  877146
 GRCh38
 Duplication
 No
  mosca_16_DCD_discovery_cases-case128303
 N/A
 F
 DCD
 Ancestry: European. Family history: maternal diagnosis reading disorder; paternal diagnosis reading disorder; sibling diagnosis ADHD and reading disorder.
 
 40515417
 40629544
  114128
 GRCh38
 Duplication
 Yes
  munnich_19_ASD_discovery_cases-case20
 N/A
 F
 ASD
 Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
 
 41651569
 42053243
  401675
 GRCh38
 Deletion
 Yes
  noor_09_ASD_discovery_cases-case1
 NA
 M
 Autism
 No clinical information provided. This case was previously described in a Marshall et al. 2008 CNV report (ID NA0112-000).
 
 38634861
 38755862
  121002
 GRCh38
 Duplication
 Yes
  pfundt_16_nonNDD_discovery_cases-case55
 N/A
 N/A
 Non-NDD
 Disease cohort: complex phenotype. Description: de novo USP9X deletion in female patint
 
 41134724
 41201281
  66558
 GRCh38
 Deletion
 Yes
  pham_14_ASD/DD/EP/ID_discovery_cases-case53
 4 yrs.
 M
 Developmental delay
 Indication for study: moderate developmental delay, failure to thrive, dysmorphic features. Levels of mosaicism: 52% by CMA; 58% by FISH.
 
 41719425
 41853371
  133947
 GRCh38
 Mosaic deletion
 Yes
  pinto_10_ASD_discovery_cases-case1960_301
 NA
 F
 Autism
 Verbal, floppy infant, gastrointestinal problems
 MR
 38631591
 38770993
  139403
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5419_3
 NA
 M
 Autism
 No epilepsy; long, wide palpebral fissures, wide mouth, protruding ears, no other dysmorphic features
 Unknown
 41697302
 41734306
  37005
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5524_3
 NA
 M
 ASD
 NA
 NA
 38631591
 38770993
  139403
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case20141_1396001
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 38631591
 38770993
  139403
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case4152_1
 4 yrs.
 M
 ASD
 Autism (based on medical history and ADI-R), language delay, developmental delay, sleep disturbance, oppositional defiant disorder, allergies, asthma, high cholesterol, irritable bowel syndrome, possible history of seizures, severe self-injurious behavior, multiple hospitalizations for respiratory illness and pneumonias during infancy, history of recurring ear infections; dysmorphic features (long philtrum, narrowed pointed nose, posteriorly rotated ears, prominent occiput, epicanthal folds, overlapping toes), hypotonia. Family history: mother with chronic cytomegalovirus infection, anxiety disorder, depression, migraines, anorexia, bulimia, and articulation problems; father with bipolar disorder, drug addiction, history of psychiatric hospitalization, and high cholesterol.
 Mild ID (Vineland Adaptive Behavior Composite score 64 at 4 y)
 40516158
 40628610
  112453
 GRCh38
 Duplication
 No
  pinto_14_ASD_discovery_cases2-case4356_1
 N/A
 M
 ASD
 Autism (based on medical history and ADI-R), language delay (first words 12 mo, first phrases 36 mo). Family history: N/A.
 PIQ 97, FSIQ 52
 38256951
 38602274
  345324
 GRCh38
 Duplication
 No
  pinto_14_ASD_discovery_cases2-case9861_202
 N/A
 M
 ASD
 Autism (autism on ADI-R, ASD on ADOS), delayed speech (first words 36 mo, first phrases 72 mo), limited language at 7 y; epilepsy started at 6 y, treated. No dysmorphic features, normal physical exam; normal height, weight and head circumference. Brain CT scan: frontal cortical atrophy; normal audiometry. Family history: both parents healthy.
 Average IQ (Leiter-R at 7 y: VIQ 90)
 41504478
 41515270
  10793
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case110953
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 37674137
 37893618
  219482
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case96280L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 41440618
 41479656
  39039
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11220.p1
 12.1
 F
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
 40516158
 40628610
  112453
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11376.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
 38763743
 38770993
  7251
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11456.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
 39170434
 39177989
  7556
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12197.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
 40983136
 40998109
  14974
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12337.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
 40928482
 40974693
  46212
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12343.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
 42128522
 42141363
  12842
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12961.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
 40909805
 40936921
  27117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13162.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
 37929771
 38150099
  220329
 GRCh38
 Duplication
 No
  willemsen_12_DD/ID_discovery_cases-case52
 
 M
 Intellectual disability
 Intellectual disability
 Intellectual disability
 38645803
 38695802
  50000
 GRCh38
 Duplication
 No
  willemsen_12_DD/ID_discovery_cases-case53
 
 M
 Intellectual disability
 Intellectual disability
 Intellectual disability
 38645803
 38695802
  50000
 GRCh38
 Duplication
 No
  xu_16_ASD/DD/ID_discovery_cases-case17
 N/A
 N/A
 Developmental delay
 Primary diagnosis of developmental delay based on DQ scores.
 
 38566298
 38658688
  92391
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  cai_08_ASD_discovery_controls-control1
  NA
 
  Control
  NA
  NA
 
 
  129000
  Unknown
  Duplication
  No
  cai_08_ASD_discovery_controls-control2
  NA
 
  Control
  NA
  NA
 
 
  129000
  Unknown
  Duplication
  No
  cai_08_ASD_discovery_controls-control3
  NA
 
  Control
  NA
  NA
 
 
  129000
  Unknown
  Duplication
  No
  cai_08_ASD_discovery_controls-control4
  NA
 
  Control
  NA
  NA
 
 
  129000
  Unknown
  Duplication
  No
  cai_08_ASD_discovery_controls-control5
  NA
 
  Control
  NA
  NA
 
 
  129000
  Unknown
  Duplication
  No
  cai_08_ASD_discovery_controls-control6
  NA
 
  Control
  NA
  NA
 
 
  129000
  Unknown
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036016517_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38631591
  38770993
  139403
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB700071_1007874656
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38631591
  38769214
  137624
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB818627_1007854359
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38631591
  38770993
  139403
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB837205_1007852918
  N/A
  N/A
  Control
  No previous psychiatric history
 
  39543455
  39599557
  56103
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB920032_1007845366
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38631591
  38769214
  137624
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900172_900172
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38655695
  38770993
  115299
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900416_900416
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38269285
  38899006
  629722
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900698_900698
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38631591
  38770993
  139403
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901083_901083
  N/A
  N/A
  Control
  No previous psychiatric history
 
  37890598
  38287917
  397320
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
  N/A
  N/A
  Control
  No previous psychiatric history
 
  38621856
  38779348
  157493
  GRCh38
  Duplication
  No
  krumm_15_ASD_discovery_controls-control11220.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  40588985
  40630773
  41789
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13162.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  37990839
  38126730
  135892
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14407.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  38666120
  38687667
  21548
  GRCh38
  Duplication
  Yes
  leblond_19_ASD_discovery_controls-controlPN400352
  N/A
  F
  Control
  Non-autism control
 
  38646245
  38687754
  41510
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C28077
 
 
  Control
 
 
  38358108
  38524278
  166171
  Unknown
  Duplication
 
  sanders_11_ASD_discovery_controls-11220.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  40516158
  40624703
  108546
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11456.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  39170434
  39177989
  7556
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11571.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  42128522
  42141363
  12842
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11812.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  42128522
  42141363
  12842
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12337.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  40928482
  40974693
  46212
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12343.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  42128522
  42141363
  12842
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12434.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  39798206
  39809706
  11501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13162.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  37929771
  38150099
  220329
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 asadollahi_14_NDD_discovery_cases-case69234
 MLPA
 
 De novo
 Unknown
 Unknown
 CASK-AS1,RNU6-1321P,RN7SL144P,GPR34,RNU6-202P,GPR82,CASK
 
 bacchelli_20_ASD_discovery_cases-caseAB133
 
 
 Maternal
 Simplex
 
 TSPAN7
 
 becker_20_EP/ID_discovery_cases-caseFam2-p1
 
 
 De novo
 Simplex
 Segregated
 RPS15AP39,GPR82,CASK
 
 bremer_11_ASD_discovery_cases-case38
 MLPA, FISH
 
 Maternal
 NA
 NA
 TSPAN7
 
 cai_08_ASD_discovery_cases-AU032904
 qPCR
 
 Maternal
 NA
 NA
 1 gene (TM4SF2)
 
 cai_08_ASD_discovery_cases-AU038703
 qPCR
 
 Maternal
 Multiplex
 Not segregated
 1 gene (TM4SF2)
 
 calderoni_20_ASD_discovery_cases-caseP1
 qPCR
 
 Maternal
 
 
 TSPAN7
 
 celestino-soper_11_ASD_discovery_cases-11338
 
 
 Unknown
 Simplex
 NA
 MED14
 
 celestino-soper_11_ASD_discovery_cases-11418
 
 
 Unknown
 Simplex
 NA
 DYNLT3
 
 egger_14_ASD_discovery_cases-caseA207
 
 
 Unknown
 
 Unknown
 TSPAN7
 
 engchuan_15_ASD_discovery_cases-case13027_353
 
 
 Unknown
 
 
 HYPM,MIR548AJ2,SRPX,SYTL5
 
 engchuan_15_ASD_discovery_cases-case13054_643
 
 
 Unknown
 
 
 HYPM,MIR548AJ2,SRPX,SYTL5
 
 engchuan_15_ASD_discovery_cases-case1960_301
 
 
 Unknown
 
 
 TSPAN7
 
 engchuan_15_ASD_discovery_cases-case20033_1227001
 
 
 Unknown
 
 
 TSPAN7
 
 engchuan_15_ASD_discovery_cases-case20141_1396001
 
 
 Unknown
 
 
 TSPAN7
 
 engchuan_15_ASD_discovery_cases-case3065_5
 
 
 Unknown
 
 
 TSPAN7
 
 engchuan_15_ASD_discovery_cases-case4152_1
 
 
 Unknown
 
 
 RNU7-164P,MPC1L,ATP6AP2,CXorf38
 
 engchuan_15_ASD_discovery_cases-case4457_1
 
 
 Unknown
 
 
 TSPAN7
 
 engchuan_15_ASD_discovery_cases-case5419_3
 
 
 Unknown
 
 
 GPR82,CASK
 
 engchuan_15_ASD_discovery_cases-case5524_3
 
 
 Unknown
 
 
 TSPAN7
 
 engchuan_15_ASD_discovery_cases-case6034_3
 
 
 Unknown
 
 
 TSPAN7
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER258154
 
 
 De novo
 Simplex
 Segregated
 CASK
 
 hnoonual_17_ASD_discovery_cases-caseRA11
 
 
 Maternal
 
 
 NYX
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001712
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 TSPAN7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001817
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU7-164P,MPC1L,MED14OS,DPRXP6,ATP6AP2,MED14,CXorf38
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001870
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TSPAN7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001908
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 TSPAN7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002681
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RNU6-1321P,RN7SL144P,GPR34,GPR82,CASK
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003803
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RN7SL144P,GPR34,GPR82,CASK
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004248
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL144P,GPR34,GPR82,CASK
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004827
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL732P,GAPDHP1,MIR1587,RPS11P7,BCOR
 
 krumm_15_ASD_discovery_cases-case11220.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MPC1L,ATP6AP2,CXorf38
 
 krumm_15_ASD_discovery_cases-case13162.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 RNU6-49P,HYPM,MIR548AJ2,DYNLT3,SYTL5
 
 krumm_15_ASD_discovery_cases-case13512.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SYTL5
 
 krumm_15_ASD_discovery_cases-case13911.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 TSPAN7
 
 krumm_15_ASD_discovery_cases-case14407.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TSPAN7
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case4
 
 
 Unknown
 
 
 RNU6-1321P,CASK
 
 lesca_12_EP_discovery_cases-case13-19
 
 
 Maternal
 Unknown
 Unknown
 
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases-case47
 
 
 Unknown
 
 
 TSPAN7
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown222
 
 
 Maternal
 Unknown
 Unknown
 RNU7-164P,MPC1L,ATP6AP2,CXorf38
 
 marshall_08_ASD_discovery_cases-NA0112-000
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 TSPAN7
 
 monteiro_19_ASD_discovery_cases_case29
 
 
 De novo
 
 
 RNU6-202P,ATP5MC2P4,RNU6-630P,RNU6-1124P,GPR82,CASK
 
 mosca_16_DCD_discovery_cases-case128303
 qPCR
 
 Unknown
 Multi-generational
 Unknown
 RNU7-164P,MPC1L,ATP6AP2,CXorf38
 
 munnich_19_ASD_discovery_cases-case20
 FISH
 
 De novo
 
 
 RN7SL144P,GPR34,RNU6-202P,GPR82,CASK
 
 noor_09_ASD_discovery_cases-case1
 qPCR, qmPCR
 
 Maternal
 Unknown
 Unknown
 TSPAN7
 No apparent disruption in expression or coding sequence of the TSPAN7 gene
 pfundt_16_nonNDD_discovery_cases-case55
 MLPA or MAQ
 
 De novo
 
 
 USP9X
 
 pham_14_ASD/DD/EP/ID_discovery_cases-case53
 FISH and/or chromosome analysis
 
 De novo
 Unknown
 Unknown
 GPR82,CASK
 
 pinto_10_ASD_discovery_cases-case1960_301
 Illumina550
 
 maternal
 NA
 NA
 TSPAN7
 
 pinto_10_ASD_discovery_cases-case5419_3
 qPCR-Maternal,Agilent1M
 
 maternal
 Simplex
 NA
 GPR82,CASK
 
 pinto_10_ASD_discovery_cases-case5524_3
 Agilent1M
 
 maternal
 NA
 NA
 TSPAN7
 
 pinto_14_ASD_discovery_cases2-case20141_1396001
 qPCR
 
 Maternal (X-linked in a male)
 Simplex
 CNV also present in unaffected sister
 TSPAN7
 
 pinto_14_ASD_discovery_cases2-case4152_1
 Validation not attempted
 
 Maternal (X-linked in a male)
 Simplex
 Unknown (not tested)
 RNU7-164P,MPC1L,ATP6AP2,CXorf38
 
 pinto_14_ASD_discovery_cases2-case4356_1
 Validation not attempted
 
 Maternal (X-linked in a male)
 Multiplex
 Unknown (not tested)
 TDGF1P1,FTLP16,UBTFL11,RPGR,OTC,TSPAN7
 
 pinto_14_ASD_discovery_cases2-case9861_202
 qPCR
 
 Maternal (X-linked in a male)
 Simplex
 Possibly segregated (not tested; possible X-linked segregation)
 CASK
 
 prasad_12_ASD_discovery_cases-case110953
 
 
 Unknown
 Unknown
 Unknown
 SYTL5,CXorf27,SRPX
 
 prasad_12_ASD_discovery_cases-case96280L
 
 
 Unknown
 Unknown
 Unknown
 GPR82,GPR34,CASK
 
 sanders_11_ASD_discovery_cases-11220.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU7-164P,MPC1L,ATP6AP2,CXorf38
 
 sanders_11_ASD_discovery_cases-11376.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11456.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12197.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12337.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RPS2P55
 
 sanders_11_ASD_discovery_cases-12343.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-630P
 
 sanders_11_ASD_discovery_cases-12961.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RPS2P55
 
 sanders_11_ASD_discovery_cases-13162.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 HYPM,MIR548AJ2,SRPX,SYTL5
 
 willemsen_12_DD/ID_discovery_cases-case52
 
 
 Maternal
 
 
 TSPAN7
 
 willemsen_12_DD/ID_discovery_cases-case53
 
 
 Maternal
 
 
 TSPAN7
 
 xu_16_ASD/DD/ID_discovery_cases-case17
 
 
 Maternal
 
 
 RNU7-7P,TSPAN7
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cai_08_ASD_discovery_controls-control1
 
 
  Unknown
  NA
  NA
  1 gene (TM4SF2)
 
cai_08_ASD_discovery_controls-control2
 
 
  Unknown
  NA
  NA
  1 gene (TM4SF2)
 
cai_08_ASD_discovery_controls-control3
 
 
  Unknown
  NA
  NA
  1 gene (TM4SF2)
 
cai_08_ASD_discovery_controls-control4
 
 
  Unknown
  NA
  NA
  1 gene (TM4SF2)
 
cai_08_ASD_discovery_controls-control5
 
 
  Unknown
  NA
  NA
  1 gene (TM4SF2)
 
cai_08_ASD_discovery_controls-control6
 
 
  Unknown
  NA
  NA
  1 gene (TM4SF2)
 
engchuan_15_ASD_discovery_controls-control110036016517_
 
 
  Unknown
 
 
  TSPAN7
 
engchuan_15_ASD_discovery_controls-controlB700071_1007874656
 
 
  Unknown
 
 
  TSPAN7
 
engchuan_15_ASD_discovery_controls-controlB818627_1007854359
 
 
  Unknown
 
 
  TSPAN7
 
engchuan_15_ASD_discovery_controls-controlB837205_1007852918
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB920032_1007845366
 
 
  Unknown
 
 
  TSPAN7
 
engchuan_15_ASD_discovery_controls-controlHABC_900172_900172
 
 
  Unknown
 
 
  TSPAN7
 
engchuan_15_ASD_discovery_controls-controlHABC_900416_900416
 
 
  Unknown
 
 
  TDGF1P1,FTLP16,UBTFL11,RNU7-7P,MID1IP1,MID1IP1-AS1,RPGR,OTC,TSPAN7
 
engchuan_15_ASD_discovery_controls-controlHABC_900698_900698
 
 
  Unknown
 
 
  TSPAN7
 
engchuan_15_ASD_discovery_controls-controlHABC_901083_901083
 
 
  Unknown
 
 
  HYPM,MIR548AJ2,SRPX,SYTL5,RPGR
 
engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
 
 
  Unknown
 
 
  TSPAN7
 
krumm_15_ASD_discovery_controls-control11220.s1
  Illumina 1M
 
  Maternal
 
 
  MPC1L,ATP6AP2,CXorf38
 
krumm_15_ASD_discovery_controls-control13162.s1
  Illumina 1MDuo
 
  Maternal
 
 
  HYPM,MIR548AJ2,SYTL5
 
krumm_15_ASD_discovery_controls-control14407.s1
  Omni2.5-4v1
 
  Maternal
 
 
  TSPAN7
 
leblond_19_ASD_discovery_controls-controlPN400352
 
 
  Unknown
 
 
  TSPAN7
 
nord_11_ASD_discovery_controls-04C28077
 
 
 
 
 
  TSPAN7
 
sanders_11_ASD_discovery_controls-11220.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU7-164P,MPC1L,ATP6AP2
 
sanders_11_ASD_discovery_controls-11456.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11571.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-630P
 
sanders_11_ASD_discovery_controls-11812.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-630P
 
sanders_11_ASD_discovery_controls-12337.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPS2P55
 
sanders_11_ASD_discovery_controls-12343.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-630P
 
sanders_11_ASD_discovery_controls-12434.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13162.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HYPM,MIR548AJ2,SRPX,SYTL5
 

No Animal Model Data Available
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