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Xq25CNV Type: Deletion-Duplication


Largest CNV size: 1420000 bp

Statistics Box:
Number of Reports: 22



Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spe...
Duplication
Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation
Duplication
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
NA
Deletion
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological 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
 183000
 0
 1
 1
 bonnet_09_DD/ID_discovery_cases
 Two affected brothers carrying a maternally-inherited Xq25 duplication affecting the GRIA3 gene evaluated at the Centre Hospitalier Universitaire de Nancy (Vandoeuvre les Nancy, France).
 2
 Both individuals presented with developmental delay (DD) and intellectual disability (ID).
 NA
 Male
 270546
 0
 2
 2
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 754459
 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
 298034
 8
 3
 11
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 425169
 1
 0
 1
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 73009
 1
 0
 1
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases
 18 patients from 17 families evaluated by providers at Texas Children's Hospital and tested by clinical chromosomal microarray (CMA) by the Baylor Genetics Laboratory (BGL) or Signature Genomic Laboratory for CHRNA7 duplications
 18
 7/17 cases met criteira for ASD based on clinical impression; 11/18 cases presented with ADHD. Cognitive and behavioral testing included the Differential Ability Scales, Second Edition (DAS-II), the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavioral Assessment for Children, Second Edition (BASC-2).
 Average, 9.9 years
 66.67% Male
 536677
 0
 1
 1
 guilmatre_09_ASD_discovery_cases
 ASD cases from 4 units in Rouen, Tours, and Dijon (France) and in Messina (Italy). 9.6% of cases were familial (multiplex families), 8.5% of cases were syndromic.
 260
 257 cases with autism, 3 cases with Aspberger syndrome
 11.8
 80.5% Male
 1420000
 0
 1
 1
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 151152
 2
 0
 2
 jacquemont_06_ASD_discovery_cases
 Patients diagnosed with syndromic autism selected by clinical geneticists or child psychiatricians of Necker-Enfants Malades Hospital in Paris, France (n=28) and from the PARIS study (n=1).
 29
 Patients diagnosed with syndromic autism. DSM-IV criteria met for autism, PDD-NOS, or Asperger syndrome.
 NA
 58.62% Male
 3200000
 0
 1
 1
 jiao_19_EP/DD/ID_discovery_cases
 Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
 220
 Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
 Range, 1 mo.- 14 yrs.
 60.45% Male
 390000
 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
 1784514
 2
 4
 6
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 510416
 1
 2
 3
 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
 4200000
 1
 0
 1
 mitani_21_DD/ID_discovery_cases
 Individuals from 234 newly enrolled (175 simplex families, 54 families with two affected, four families with three affected, and one family with four affected) Turkish families in the Turkish brain malformation/NDD cohort #2 (TBM2) cohort of Baylor-Hopkins Center for Mendelian Genomics (BHCMG) with a spectrum of neurodevelopmental disorder phenotypes.
 299
 Cases presented with brain malformations and/or neurodevelopmental disorders, with the most frequently observed NDDs being developmental delay (DD) and/or intellectual disability (ID).
 NA
 NA
 916065
 0
 1
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 43881
 0
 2
 2
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 281551
 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
 642000
 0
 1
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 276495
 1
 1
 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
 819499
 17
 4
 21
 schroer_12_ASD_discovery_cases
 Proband in the South Carolina Autism Project identified in a study of 187 ASD probands
 1
 Diagnosis of autism and intellectual disability based on CARS, ADI-R, PL-ADOS, Vineland Adaptive Behavior Scales, and Stanford-Binet Intelligence Scales, 4th edition.
 17 yrs.
 Male
 615000
 0
 1
 1
 soueid_16_ASD_discovery_cases
 Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
 41
 All cases fulfilled DSM-V criteria for autism
 Range, 3-18 yrs.
 92.68% Male
 257000
 1
 0
 1
 soueid_16_DD/ID_discovery_cases
 Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 35
 Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 N/A
 N/A
 0
 0
 0
 0

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 488366
 17
 6
 23
 guilmatre_09_ASD_discovery_controls
 Controls
 236
 Controls
 39.5
 43.8% Male
 0
 0
 0
 0
 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
 510416
 1
 2
 3
 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.
 
 69503
 3
 0
 3
 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)
 43881
 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.
 
 819499
 19
 4
 23
 soueid_16_ASD_discovery_controls
 Control cohort of normal participants
 37
 Control
 N/A
 51.35% Male
 0
 0
 0
 0

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
 bonnet_09_DD/ID_discovery_cases
  France
 aCGH
  Agilent 244A
 NA
 Agilent Feature Extraction v.9.5.3.1, Agilent CGH analytics software v.3.5.14
 qPCR
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases
  N/A
 CMA
  Platform N/A
 
 
 None
 guilmatre_09_ASD_discovery_cases
  France (231), Italy (29)
 QMPSF
  ABI Prism 3100 sequencer (Applied Biosystems)
 
 GeneScan 3.7
 QMPSF, aCGH, FISH
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 None
 jacquemont_06_ASD_discovery_cases
  France
 aCGH
  BACs aCGH (1 Mb resolution array)
 
 
 PCR, aCGH
 jiao_19_EP/DD/ID_discovery_cases
  China
 WGS
  Low-coverage whole genome sequencing
 
 Illumina BclToFastq
 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)
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 mitani_21_DD/ID_discovery_cases
  Turkey
 WES, WGS
  Illumina HiSeq2000, Illumina NovaSeq6000
 NA
 XHMM, HMZDelFinder, AluAluCNVpredictor, Parliament2
 aCGH and/or ddPCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 schroer_12_ASD_discovery_cases
  White
 aCGH
  Agilent 4x44K exon-focused microarray
 
 
 aCGH (Agilent 244K), FISH
 soueid_16_ASD_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 soueid_16_DD/ID_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  guilmatre_09_ASD_discovery_controls
  Northwestern France
  QMPSF
  ABI Prism 3100 sequencer (Applied Biosystems)
 
  GeneScan 3.7
 
  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)
  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
 
 
  soueid_16_ASD_discovery_controls
  Lebanon
  Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
  Affymetrix ChAS
  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
  asadollahi_14_NDD_discovery_cases-case68942
 N/A
 M
 NDD
 Case with unspecified neurodevelopmental disorder. Duplication also present in maternal grandfather.
 
 123669605
 123853048
  183444
 GRCh38
 Duplication
 Yes
  bonnet_09_DD/ID_discovery_cases_caseII-1
 10 yrs.
 M
 Developmental delay and intellectual disability
 Developmental milestones: severe language delay (no significant words at 10 years). Additional medical history: inguinal hernia. Family history: similarly affected brother; their mother presented with language and learning disabilities, facial hypotonia and a moderately short upper lip (X-inactivation studies showed that the affected mother had a random pattern (23 to 77%)); their unaffected sister, who also carried the mutation, with a skewed XCI pattern (3 to 97%).
 Intellectual disability (WISC-R IQ score 59 at 10 years)
 123185932
 123456477
  270546
 GRCh38
 Duplication
 Yes
  bonnet_09_DD/ID_discovery_cases_caseII-3
 NA
 M
 Developmental delay and intellectual disability
 Birth/neonatal history: hypotonia in early infancy. Developmental milestones: developmental delay, delayed ability to walk (20 months), inability to read. Behavioral/psychiatric evaluation: behavioral problems with fits of anger. Brain imaging: retrocerebellar cyst. Dysmorphic features: narrow palate, prominent incisors, short philtrum, uplifted ear lobules. Family history: similarly affected brother; their mother presented with language and learning disabilities, facial hypotonia and a moderately short upper lip (X-inactivation studies showed that the affected mother had a random pattern (23 to 77%)); their unaffected sister, who also carried the mutation, with a skewed XCI pattern (3 to 97%).
 Intellectual disability
 123185932
 123456477
  270546
 GRCh38
 Duplication
 Yes
  davis_09_ASD_discovery_cases-AU019705
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 128272178
 129026637
  754459
 Unknown
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13010_123
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 127404443
 127588183
  183741
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13236_2623
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 123522552
 123555109
  32558
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16090_1571122001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 128722789
 128782577
  59789
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20024_1116001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 130705178
 130825448
  120271
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2200_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 125959461
 126257494
  298034
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3428_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 128743944
 128782577
  38634
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3492_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 125929716
 126037195
  107480
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4270_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 121795772
 121871182
  75411
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4330_100
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 127595621
 127641346
  45726
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4422_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 122103636
 122191030
  87395
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8639_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 125341678
 125421836
  80159
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1592301
 
 
 Autism
 
 
 124296874
 124722042
  425169
 Unknown
 Hemizygous Deletion
 No
  gazzellone_14_ASD_discovery_cases-case611-3
 5 yrs.
 M
 ASD
 ASD, hypotonia, progressive motor impairments including difficulty walking
 N/A
 126750409
 126823418
  73010
 GRCh38
 Deletion
 No
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient6
 5 yrs.
 M
 Developmental delay
 Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Developmental delay. Developmental milestones: sitting at 12 months, crawling at 12 months, walking at 36 months, first word at 42 months, two word sentences at 48 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 14.97th %ile, weight 38.7th %ile, OFC 45th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.
 Full scale ratio IQ (DAS-II): 103.
 124351634
 124888311
  536678
 GRCh38
 Duplication
 No
  guilmatre_09_ASD_discovery_cases-caseT34
 10
 M
 ASD
 NA
 IQ NA
 120746477
 122166142
  1420000
 Unknown
 Duplication
 Yes
  iourov_12_ASD/ID/EP_discovery_cases-case35
 11 yrs.
 F
 Autism and epilepsy
 Autism, speech delay, seizures, facial dysmorphisms
 Cognitive delay
 130037511
 130131215
  93705
 GRCh38
 Deletion
 No
  iourov_12_ASD/ID/EP_discovery_cases-case50
 4 yrs.
 F
 Developmental delay/intellectual disability and autism
 Autism, Rett syndrome-like phenotype
 Developmental delay/intellectual disability
 129384240
 129535392
  151153
 GRCh38
 Deletion
 No
  jacquemont_06_ASD_discovery_cases-patient12
 20 yrs.
 M
 Autism
 Fulfilled DSM-IV criteria for autism. Developed scoliosis at 6 yrs (surgically treated at 15 yrs.). Facial dysmorphism.
 Mild mental retardation (MR)
 NA
 NA
  3200000
 Unknown
 Duplication
 Yes
  jiao_19_EP/DD/ID_discovery_cases-caseDD18002279
 3 yrs.
 Male
 DD and epilepsy/seizures
 Developmental milestones: global developmental delay. Epilepsy/seizures: seizures.
 
 123454385
 123844386
  390002
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002209
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 123469532
 123590128
  120597
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003841
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 123735950
 124254925
  518976
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004805
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 125868524
 126259713
  391190
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004964
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 123469532
 123590128
  120597
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005193
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 124925327
 126709707
  1784381
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005270
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 123469532
 123590128
  120597
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11247.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 123665641
 123733022
  67382
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11274.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 123623786
 123907183
  283398
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13893.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 124453336
 124963753
  510418
 GRCh38
 Deletion
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown239
  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 pathogenic
 
 125305481
 129544946
  4239466
 GRCh38
 Deletion
 No
  mitani_21_DD/ID_discovery_cases-caseBAB6868
 6 yrs.
 M
 Developmental delay and intellectual disability
 Developmental delay/intellectual disability, facial dysmorphic features. Family history: duplication is also present in affected brother; the status of the duplication in two maternal uncles and one male cousin born to a maternal aunt who also had similar facial dysmorphic features and DD/ID is unknown.
 
 123184534
 124100598
  916065
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case78621
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 122873106
 122916986
  43881
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-caseMM0105-4
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 122508184
 122520091
  11908
 Unknown
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_401
 6 yrs.
 M
 Intellectual disability and ADHD
 Learning and language delays, ADHD, dystonic posturing of hands and feet, bifid earlobe.
 Intellectual disability
 123178180
 123459732
  281553
 GRCh38
 Duplication
 No
  roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase31
 2 yrs.
 F
 Learning disability (developmental delay/intellectual disability)
 Microcephaly
 
 123840123
 124482526
  642404
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1077-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
 Developmental delay: yes. Intellectual disability: no.
 126121755
 126224963
  103209
 GRCh38
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 123914076
 124190570
  276495
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11031.p1
 13.8
 M
 Aspergers
 NA
 Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
 122175872
 122179796
  3925
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11080.p1
 5.1
 F
 ASD
 NA
 Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
 128700540
 128732603
  32064
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11113.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 100; verbal IQ 92
 122175872
 122179796
  3925
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11129.p1
 4.7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
 128700540
 128732603
  32064
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11154.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 86; verbal IQ, 102
 129186633
 129192989
  6357
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11225.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 98; verbal IQ 120
 122175872
 122182407
  6536
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11247.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
 123658896
 123777892
  118997
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11274.p1
 11.6
 F
 ASD
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 107
 123624358
 123983139
  358782
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11277.p1
 10.2
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
 128700540
 128749696
  49157
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11356.p1
 11.5
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
 126275744
 127095243
  819500
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11359.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 81
 125858314
 125860196
  1883
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11524.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 116; verbal IQ, 109
 127595621
 127625238
  29618
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11616.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
 129186633
 129192989
  6357
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11694.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
 129181253
 129192989
  11737
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12010.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
 129186633
 129192989
  6357
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12093.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97
 125858314
 125860196
  1883
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 128722789
 128745983
  23195
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12346.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106
 128261990
 128301573
  39584
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12579.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
 127595621
 127608818
  13198
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12588.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 105; verbal IQ, 108
 126972400
 127616292
  643893
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12858.p1
 4.2
 F
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
 129799681
 129845800
  46120
 GRCh38
 Deletion
 No
  schroer_12_ASD_discovery_cases-case1
 17 yrs.
 M
 Autism
 Diagnosis of autism based on CARS, ADI-R, and PL-ADOS. Birth/neonatal history: pregnancy associated with gestational diabetes managed by diet; Rho-Gham administered at 7 months gestation; delivery at 38.5 weeks; birth weight 3.3 kg; uneventful newborn period. Developmental milestones: walked at 12 months and developed age-appropriate speech; both motor and language development plateaued at age 18-20 months and then began to regress. Epilepsy/seizures: febrile seizure at 10 months of age, complex partial seizures developed 2-3 months later that were controlled with anticonvulsives and brain surgery (left frontotemporal resection at 5 years); no seizures in past 3 years reported at age of 16 years 7 months. Language and communication evaluation: exhibition of echolalia. Motor and musculoskeletal evaluation: lag in fine motor skills; deep tendon reflexes more brisk at knees than elsewhere. Beahvioral/psychiatric evaluation: lag in social skills, avoidance of eye contact, play preference with younger children, development of routines in his activities. EEG: epileptic discharges localized to left fronto-orbital area. Brain imaging: no structural abnormalities noted on brain MRI. Biochemical evaluation: normal plasma amino acids, urine metabolic screen, urine amino acids and organic acids, and serum adenylsuccinate lyase activity; elevated platelet serotonin. Visual and auditory evaluation: seemed to have very sensitive hearing. Dysmorphic features: widely spaced eyes, Cupid's bow upper lip, flattened occiput. Growth parameters (at age of 16 years 7 months): height, 164 cm (5-10th %ile); head circumference, 56.4 cm (50th-75th %ile). Family history: only child of healthy white parents.
 Intellectual disability (based on Vineland Adaptive Behavior Scales and Stanford-Binet Intelligence Scale, 4th ed.); IQ of 60 at age 17 years. Good memory, spelling and mechanical skills noted at earlier evaluations.
 129290881
 129906568
  615688
 GRCh38
 Duplication
 Yes
  soueid_16_ASD_discovery_cases-caseBAK42
 N/A
 M
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 127755727
 128013126
  257400
 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
  engchuan_15_ASD_discovery_controls-control110036006690_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  127013958
  127198772
  184815
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB199927_1007875977
  N/A
  N/A
  Control
  No previous psychiatric history
 
  126059373
  126172506
  113134
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB225250_1007853739
  N/A
  N/A
  Control
  No previous psychiatric history
 
  126184958
  126229321
  44364
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB293253_1007842044
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128532424
  128864283
  331860
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB368961_1007872308
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128532424
  128864283
  331860
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB399063_0067942624
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128011090
  128076279
  65190
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB488908_1007854765
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128494314
  128581244
  86931
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB781973_1007874689
  N/A
  N/A
  Control
  No previous psychiatric history
 
  127316488
  127588183
  271696
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB791125_1007873652
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128007627
  128106015
  98389
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB940548_1007844796
  N/A
  N/A
  Control
  No previous psychiatric history
 
  126218792
  126505242
  286451
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB969719_1007842424
  N/A
  N/A
  Control
  No previous psychiatric history
 
  125970935
  126156048
  185114
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB986239_1007854704
  N/A
  N/A
  Control
  No previous psychiatric history
 
  127894976
  128383343
  488368
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900271_900271
  N/A
  N/A
  Control
  No previous psychiatric history
 
  126203900
  126259616
  55717
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900333_900333
  N/A
  N/A
  Control
  No previous psychiatric history
 
  126781502
  127023465
  241964
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900987_900987
  N/A
  N/A
  Control
  No previous psychiatric history
 
  126191257
  126250450
  59194
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901079_901079
  N/A
  N/A
  Control
  No previous psychiatric history
 
  127004316
  127205779
  201464
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901230_901230
  N/A
  N/A
  Control
  No previous psychiatric history
 
  126291963
  126421774
  129812
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902429_902429
  N/A
  N/A
  Control
  No previous psychiatric history
 
  127529125
  127786984
  257860
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902552_902552
  N/A
  N/A
  Control
  No previous psychiatric history
 
  126191257
  126229321
  38065
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902615_902615
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128128593
  128515538
  386946
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
  N/A
  N/A
  Control
  No previous psychiatric history
 
  127583454
  127895581
  312128
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902714_902714
  N/A
  N/A
  Control
  No previous psychiatric history
 
  126245564
  126295520
  49957
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902887_902887
  N/A
  N/A
  Control
  No previous psychiatric history
 
  125832509
  125927205
  94697
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11356.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  126551216
  126821535
  270320
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13250.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  124736956
  124963753
  226798
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13893.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  124453336
  124963753
  510418
  GRCh38
  Deletion
  Yes
  nord_11_ASD_discovery_controls-04C27990
 
 
  Control
 
 
  127571839
  127581257
  9419
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C28234
 
 
  Control
 
 
  126556500
  126587081
  30582
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C28411
 
 
  Control
 
 
  126872675
  126942177
  69503
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11051.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  122175872
  122179796
  3925
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11208.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  122175872
  122182407
  6536
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  123522552
  123542870
  20319
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11356.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  126275744
  127095243
  819500
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11359.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  126059373
  126176869
  117497
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11404.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  128267383
  128763940
  496558
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11446.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  127595621
  127616292
  20672
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11510.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  129186633
  129192989
  6357
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11524.s1
  17.3
  M
  Control (matched sibling)
  NA
  NA
  127595621
  127625238
  29618
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11616.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  129186633
  129192989
  6357
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11712.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  129150802
  129186789
  35988
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11723.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  128700540
  128732603
  32064
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11979.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  129145535
  129186789
  41255
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12219.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  126191257
  126229321
  38065
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12229.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  127595621
  127641346
  45726
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12327.s1
  16.3
  F
  Control (matched sibling)
  NA
  NA
  128700540
  128732603
  32064
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12588.s1
  5.4
  M
  Control (matched sibling)
  NA
  NA
  126972400
  127616292
  643893
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12595.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  127360133
  127492990
  132858
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12888.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  125950064
  126024530
  74467
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12892.s1
  15.4
  F
  Control (matched sibling)
  NA
  NA
  125324323
  125337055
  12733
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12956.s1
  7.4
  F
  Control (matched sibling)
  NA
  NA
  129150802
  129186789
  35988
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13193.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  129181253
  129192989
  11737
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13266.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  128700540
  128732603
  32064
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 asadollahi_14_NDD_discovery_cases-case68942
 MLPA
 
 Maternal
 Unknown
 Unknown
 MEMO1P4,RNU7-69P,CHCHD2P1,RN7SL190P,THOC2
 
 bonnet_09_DD/ID_discovery_cases_caseII-1
 qPCR
 
 Maternal
 Multiplex
 Segregated
 GRIA3
 
 bonnet_09_DD/ID_discovery_cases_caseII-3
 qPCR
 
 Maternal
 Multiplex
 Segregated
 GRIA3
 
 davis_09_ASD_discovery_cases-AU019705
 
 
 Unknown
 Unknown
 Unknown
 SMARCA1, OCRL, APLN, XPNPEP2, ZDHHC9, BCORL1, ELF4, AIFM1
 
 engchuan_15_ASD_discovery_cases-case13010_123
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13236_2623
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case16090_1571122001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20024_1116001
 
 
 Unknown
 
 
 ENOX2
 
 engchuan_15_ASD_discovery_cases-case2200_1
 
 
 Unknown
 
 
 DCAF12L2
 
 engchuan_15_ASD_discovery_cases-case3428_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3492_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4270_1
 
 
 Unknown
 
 
 TPT1P13
 
 engchuan_15_ASD_discovery_cases-case4330_100
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4422_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8639_201
 
 
 Unknown
 
 
 
 
 gai_11_ASD_discovery_cases-AU1592301
 
 
 Inherited
 
 
 0 genes
 
 gazzellone_14_ASD_discovery_cases-case611-3
 
 
 Unknown
 Unknown
 Unknown
 PRR32
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient6
 
 
 Maternal
 Simplex
 Unknown
 STAG2,SH2D1A,TENM1
 
 guilmatre_09_ASD_discovery_cases-caseT34
 QMPSF, aCGH, or FISH
 
 Maternal
 NA
 NA
 GRIA3 exons 1-4
 
 iourov_12_ASD/ID/EP_discovery_cases-case35
 
 
 Unknown
 Unknown
 Unknown
 ELF4,AIFM1,BCORL1
 
 iourov_12_ASD/ID/EP_discovery_cases-case50
 
 
 Unknown
 Unknown
 Unknown
 RPS26P56,RNA5SP513,SMARCA1
 
 jacquemont_06_ASD_discovery_cases-patient12
 PCR, aCGH (tiling path)
 
 Maternal
 Simplex
 Segregated
 NA
 
 jiao_19_EP/DD/ID_discovery_cases-caseDD18002279
 
 
 Maternal
 Simplex
 Not segregated
 TUBB4AP1,FERP1,MEMO1P4,RNU7-69P,CHCHD2P1,RN7SL190P,GRIA3,THOC2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002209
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 TUBB4AP1,GRIA3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003841
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MEMO1P4,RNU7-69P,CHCHD2P1,RN7SL190P,XIAP-AS1,RNU6-122P,HSPA8P20,ZIK1P1,XIAP,STAG2,SH2D1A,TEX13D
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004805
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DCAF12L2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004964
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB4AP1,GRIA3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005193
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DCAF12L2,MTCO1P53,MTND4LP1,MTND4P24,TEX13C,DCAF12L1,TENM1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005270
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 TUBB4AP1,GRIA3
 
 krumm_15_ASD_discovery_cases-case11247.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 THOC2
 
 krumm_15_ASD_discovery_cases-case11274.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 MEMO1P4,RNU7-69P,CHCHD2P1,RN7SL190P,XIAP-AS1,RNU6-122P,XIAP,THOC2
 
 krumm_15_ASD_discovery_cases-case13893.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TENM1
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown239
 
 
 Unknown
 Unknown
 Unknown
 DCAF12L2,MTCO1P53,MTND4LP1,MTND4P24,MTCYBP38,PRR32,ACTRT1,RPL7AP72,KRT18P44,RPL32P35,RPS26P56,RNA5SP513,TEX13C,DCAF12L1,BTG3P1,OCRL,SMARCA1
 
 mitani_21_DD/ID_discovery_cases-caseBAB6868
 aCGH and/or ddPCR
 
 Maternal
 Extended multiplex
 Unknown
 XIAP,THOC2,GRIA3,TUBB4AP1,FERP1,RNU7-69P,MEMO1P4,PARD6BP1,CHCHD2P1,RN7SL190P,XIAP-AS1,RNU6-122P,H3P47,STAG2
 
 prasad_12_ASD_discovery_cases-case78621
 
 
 Unknown
 Unknown
 Unknown
 XIAP
 
 prasad_12_ASD_discovery_cases-caseMM0105-4
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 quintela_17_DD/ID_discovery_cases-caseID_401
 
 
 Unknown
 
 Unknown
 GRIA3
 
 roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase31
 BACs aCGH or FISH
 
 Unknown (not maternal)
 Unknown
 Unknown
 XIAP-AS1,RNU6-122P,HSPA8P20,NPM1P34,ZIK1P1,XIAP,STAG2,SH2D1A,TEX13D,TENM1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1077-0
 qPCR
 
 Unknown
 Unknown
 Unknown
 DCAF12L2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
 qPCR (CNV not detected)
 
 Bi-parental
 Unknown
 Unknown
 ZIK1P1,STAG2
 
 sanders_11_ASD_discovery_cases-11031.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11080.p1
 
 
 Paternal
 Simplex (trio)
 NA
 KRT18P44
 
 sanders_11_ASD_discovery_cases-11113.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11129.p1
 
 
 Unknown
 Simplex (trio)
 NA
 KRT18P44
 
 sanders_11_ASD_discovery_cases-11154.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11225.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11247.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 MEMO1P4,RNU7-69P,THOC2
 
 sanders_11_ASD_discovery_cases-11274.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 MEMO1P4,RNU7-69P,CHCHD2P1,RN7SL190P,XIAP-AS1,RNU6-122P,XIAP,STAG2,THOC2
 
 sanders_11_ASD_discovery_cases-11277.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 KRT18P44
 
 sanders_11_ASD_discovery_cases-11356.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 MTCO1P53,MTND4LP1,MTND4P24,MTCYBP38,PRR32,DCAF12L1
 
 sanders_11_ASD_discovery_cases-11359.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11524.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11616.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11694.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12010.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12093.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12346.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12579.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12588.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12858.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 ZDHHC9
 
 schroer_12_ASD_discovery_cases-case1
 aCGH (Agilent 244K), FISH
 
 Maternal
 Simplex
 Possible segregation
 RPS26P56,RNA5SP513,OCRL,APLN,SASH3,ZDHHC9,SALL4P2,UTP14A,SMARCA1,XPNPEP2
 Increased OCRL1 phosphatase activity on patient's skin fibroblasts (compared to controls)
 soueid_16_ASD_discovery_cases-caseBAK42
 
 
 Maternal
 Simplex
 
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036006690_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB199927_1007875977
 
 
  Unknown
 
 
  DCAF12L2
 
engchuan_15_ASD_discovery_controls-controlB225250_1007853739
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB293253_1007842044
 
 
  Unknown
 
 
  KRT18P44,RPL32P35
 
engchuan_15_ASD_discovery_controls-controlB368961_1007872308
 
 
  Unknown
 
 
  KRT18P44,RPL32P35
 
engchuan_15_ASD_discovery_controls-controlB399063_0067942624
 
 
  Unknown
 
 
  ACTRT1
 
engchuan_15_ASD_discovery_controls-controlB488908_1007854765
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB781973_1007874689
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB791125_1007873652
 
 
  Unknown
 
 
  ACTRT1
 
engchuan_15_ASD_discovery_controls-controlB940548_1007844796
 
 
  Unknown
 
 
  MTCO1P53,MTND4LP1,MTND4P24
 
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB986239_1007854704
 
 
  Unknown
 
 
  ACTRT1,RPL7AP72,BTG3P1
 
engchuan_15_ASD_discovery_controls-controlHABC_900271_900271
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900333_900333
 
 
  Unknown
 
 
  PRR32
 
engchuan_15_ASD_discovery_controls-controlHABC_900987_900987
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901079_901079
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901230_901230
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902429_902429
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902552_902552
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902615_902615
 
 
  Unknown
 
 
  RPL7AP72
 
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902714_902714
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902887_902887
 
 
  Unknown
 
 
 
 
krumm_15_ASD_discovery_controls-control11356.s1
  Illumina 1M
 
  Maternal
 
 
  MTCYBP38,PRR32,DCAF12L1
 
krumm_15_ASD_discovery_controls-control13250.s1
  1M-Duov3
 
  Paternal
 
 
  TENM1
 
krumm_15_ASD_discovery_controls-control13893.s1
  Omni2.5-4v1
 
  Maternal
 
 
  TENM1
 
nord_11_ASD_discovery_controls-04C27990
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C28234
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C28411
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11051.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11208.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11356.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MTCO1P53,MTND4LP1,MTND4P24,MTCYBP38,PRR32,DCAF12L1
 
sanders_11_ASD_discovery_controls-11359.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DCAF12L2
 
sanders_11_ASD_discovery_controls-11404.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPL7AP72,KRT18P44
 
sanders_11_ASD_discovery_controls-11446.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11510.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11524.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11616.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11712.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11723.s1
 
 
  Paternal
  Simplex (quad)
  NA
  KRT18P44
 
sanders_11_ASD_discovery_controls-11979.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12219.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12229.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12327.s1
 
 
  Paternal
  Simplex (quad)
  NA
  KRT18P44
 
sanders_11_ASD_discovery_controls-12588.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12595.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12888.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12892.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TEX13C
 
sanders_11_ASD_discovery_controls-12956.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13193.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13266.s1
 
 
  Unknown
  Simplex (quad)
  NA
  KRT18P44
 

No Animal Model Data Available
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