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Xp21.2CNV Type: Deletion


Largest CNV size: 111897 bp

Statistics Box:
Number of Reports: 18



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
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
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
NA
Deletion
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Duplication
NA
Deletion
Exome sequencing identifies novel and known mutations in families with intellectual disability
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
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.
Deletion
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 annunziata_21_ASD_discovery_cases
  NA NA
 Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
 209
 Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
 Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
 80.86% Male
 98335
 1
 0
 1
 carbonell_19_ASD/ADHD/DD/ID_discovery_cases
 Cases with heterozygous monogenic ANKS1B deletions: 4 cases from two families identified at Albert Einstein College of Medicine, 2 unrelated cases from Autism Speaks/MSSNG at the University of Toronto, 1 case identified through GeneMatcher, and 12 cases identified in DECIPHER.
 19
 Cases presented with a spectrum of neurodevelopmental disorders including ASD, ADHD, developmental delay (DD), and intellectual disability (ID)
 Range, 2-35 years
 57.89% Male
 393850
 0
 2
 2
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 1213030
 1
 0
 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
 721084
 2
 3
 5
 husson_20_ASD_discovery_cases
 A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
 253
 Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
 N/A
 81.4% Male
 275
 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
 362362
 0
 2
 2
 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
 15016
 0
 2
 2
 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
 35000
 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
 
 
 111897
 1
 0
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 268094
 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
 109411
 1
 0
 1
 qiao_12_ASD/ID_discovery_cases
 Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
 52
 ASD and/or ID (intellectual disability)
 NA
 NA
 129819
 0
 1
 1
 rasheed_21_ID_discovery_cases
 Three affected siblings born to consanguineous Turkish parents carrying a maternally-inherited Xp21.2 deletion affecting the IL1RAPL1 gene.
 3
 All three siblings presented with moderate intellectual disability (ID).
 NA
 66.67% Male
 290103
 3
 0
 3
 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
 88702
 1
 0
 1
 tropeano_13_DD/ASD_discovery_cases
 Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).
 10397
 Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.
 N/A
 63.4% Male
 484984
 0
 1
 1
 tropeano_16_ASD_discovery_cases
 ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
 90
 Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
 Adult age (20 yrs.+)
 N/A
 179084
 0
 1
 1
 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
 1040000
 0
 1
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 799999
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_controls
 Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
 630
 Control
 N/A
 N/A
 80
 1
 0
 1
 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
 64184
 0
 2
 2
 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
 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)
 109411
 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.
 
 116870
 1
 0
 1
 tropeano_13_DD/ASD_discovery_controls
 Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
 11277
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 annunziata_21_ASD_discovery_cases
  Italy
 aCGH
  BlueGnome ISCA180K (Agilent)
 
 BlueGnome Bluefuse
 qPCR, FISH
 carbonell_19_ASD/ADHD/DD/ID_discovery_cases
  10 Caucasian, 1 South Asian, 1 Pakistani, 1 Maghreb, 6 not reported
 CMA, WES, WGS
  Illumina (WES)
 
 
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 husson_20_ASD_discovery_cases
  France
 WES
  Illumina HiSeq4000
 
 CANOES
 ddPCR, QMPSF, aCGH
 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
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 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
 qiao_12_ASD/ID_discovery_cases
  Canadian
 Array SNP
  Affymetrix 2.7M
 
 Affymetrix ChAS v.1.1
 QMPSF, MLPA
 rasheed_21_ID_discovery_cases
  Pakistan
 Solid phase hybridization
  Illumina GenomeStudio
 NA
 Illumina GenomeStudio cnvPartition
 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
 
 
 tropeano_13_DD/ASD_discovery_cases
  70% Caucasian, 15% African, 15% other/mixed ancestry
 aCGH
  Agilent 60K
 
 Feature Extraction, DNA Analytics
 None
 tropeano_16_ASD_discovery_cases
  United Kingdom
 aCGH
  Agilent 60K
 ADM-2
 Agilent Feature Extraction, Agilent Genomic Workbench
 MLPA, aCGH
 willemsen_12_DD/ID_discovery_cases
  Netherlands
 aCGH, array SNP
  Agilent 32K BAC array, Affymetrix 250K
 
 CNAG V2.0 (SNP array)
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_discovery_controls
  N/A
  WGS
  Illumina HiSeq X10 or HiSeq 2500
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  None
  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
 
  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
 
 
  tropeano_13_DD/ASD_discovery_controls
  77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
  Solid phase hybridization
  Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
 
 
  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
  annunziata_21_ASD_discovery_cases-caseIB260
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD; no additional clinical information available.
 Cognitive profile NA
 29520815
 29619149
  98335
 GRCh38
 Deletion
 Yes
  carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-10
 2 yrs.
 F
 ASD, developmental delay, and intellectual disability
 Case identified in DECIPHER (DECIPHER ID 304771). Developmental milestones: developmental delay, speech delay, motor delay. Motor and musculoskeletal evaluation: motor dyspraxia. Behavioral/psychiatric evaluation: ASD. EEG: focal epileptic anomalies. Brain imaging: T2 hyperintensity in the posterior corona radiata white matter. Growth parameters: head circumference not reported.
 
 30851826
 31245676
  393851
 GRCh38
 Triplication
 
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300523
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 30144069
 31357098
  1213030
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14379_4920
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 30851379
 31074333
  222955
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5036_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 29518008
 29629904
  111897
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6381_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 30593700
 30861793
  268094
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8597_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 31375940
 32097024
  721085
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8634_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 30224838
 30409474
  184637
 GRCh38
 Duplication
 No
  husson_20_ASD_discovery_cases-case426
 6 yrs.
 M
 ASD
 Diagnosis of ASD
 
 29282983
 29283257
  275
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001873
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 29713271
 29740951
  27681
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004248
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 31444405
 31806767
  362363
 GRCh38
 Duplication
 Yes
  lee_17_ASD/DD/ID/MCA_discovery_cases-case19
 15 yrs.
 F
 Intellectual disability
 
 Intellectual disability
 29350305
 29365321
  15017
 GRCh38
 Triplication
 No
  pham_14_ASD/DD/EP/ID_discovery_cases-case54
 8 yrs.
 M
 ASD and developmental delay
 Indication for study: developmental delay and PDD-NOS. Level of mosaicism: 51% by CMA; 56% by FISH.
 
 29907009
 29942173
  35165
 GRCh38
 Mosaic deletion
 Yes
  pinto_10_ASD_discovery_cases-case5036_4
 NA
 M
 Autism
 Below average language (1%ile), no epilepsy, no dysmorphic features; triplet with 2 nonASD brothers
 Average nonverbal IQ (32%ile)
 29518008
 29629904
  111897
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case6381_3
 N/A
 M
 ASD
 Autism, language delay, limited language, early-onset obesity (+4 SD), normal height, macrocephaly (+3 SD), big ears, shield-like chest, no other dysmorphic features, bilateral hypermetropia, epilepsy, normal brain MRI. Family history: mother with epilepsy; father unaffected; 1 healthy brother (no DNA).
 Severe ID
 30593700
 30861793
  268094
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case60536L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 29447360
 29556770
  109411
 Unknown
 Deletion
 No
  qiao_12_ASD_discovery_cases-case10-48A
 4 yrs. 6 mos.
 M
 ASD
 Nondysmorphic with mild occipital flattening, mild conductive hearing loss, no evidence of seizures, moderate neuromotor delay (delayed gross motor skills including crawling at 14 months, walking at 20 months, difficulty in climbing stairs independently at 3 years), hypotonia, mild calf hypertrophy, severely delayed expressive, receptive and pragmatic language skills, normal growth parameters, normal MRI and repeat CPK measures. Electromyographic and nerve conduction studies deferred while neuromotor progress continues to progress and being monitored conservatively.
 Mild intellectual disability
 31048482
 31178301
  129819
 Unknown
 Duplication
 Yes
  rasheed_21_ID_discovery_cases-caseFamMRID165-1
 NA
 F
 Intellectual disability
 Language and communication evaluation: unclear speech. Family history: born to consanguineous Pakistani parents; two similarly affected siblings.
 Moderate intellectual disability, impaired analytic ability
 29454908
 29745010
  290103
 GRCh38
 Deletion
 Yes
  rasheed_21_ID_discovery_cases-caseFamMRID165-2
 NA
 M
 Intellectual disability
 Language and communication evaluation: unclear speech. Growth parameters: macrocephaly, tall stature. Family history: born to consanguineous Pakistani parents; two similarly affected siblings.
 Moderate intellectual disability, impaired analytic ability
 29454908
 29745010
  290103
 GRCh38
 Deletion
 Yes
  rasheed_21_ID_discovery_cases-caseFamMRID165-3
 NA
 M
 Intellectual disability
 Language and communication evaluation: unclear speech. Family history: born to consanguineous Pakistani parents; two similarly affected siblings.
 Moderate intellectual disability, impaired analytic ability
 29454908
 29745010
  290103
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-12977.p1
 8.2
 F
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 95; verbal IQ, 107
 30021751
 30110453
  88703
 GRCh38
 Deletion
 No
  tropeano_13_DD/ASD_discovery_cases-case2
 5 yrs.
 M
 Developmental delay
 Attention difficulties, delayed speech and language skills, dysmorphic features
 
 29470431
 29955415
  484985
 GRCh38
 Duplication
 No
  tropeano_16_ASD_discovery_cases-MAAS24
 40-49 yrs.
 F
 ASD
 Case diagnosed with autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 2.
 
 30691094
 30870178
  179085
 GRCh38
 Duplication
 Yes
  willemsen_12_DD/ID_discovery_cases-case51
 
 F
 Multiple congenital anomalies
 Growth retardation, congenital heart and kidney defects
 
 30371962
 31411962
  1040001
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-case1-0757-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: anxiety, ADHD, Learning Disorder, Speech/Language Delay - Communication Skill Problem; Intellectual Disability
 
 30800884
 31600883
  800000
 GRCh38
 Duplication
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_controls-controlSSC10222
  N/A
  F
  Control
  Control from SSC cohort
 
  29846874
  29846954
  81
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB462693_1007873290
  N/A
  N/A
  Control
  No previous psychiatric history
 
  30037476
  30101660
  64185
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900266_900266
  N/A
  N/A
  Control
  No previous psychiatric history
 
  31358799
  31388951
  30153
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11321.s1
  15.2
  F
  Control (matched sibling)
  NA
  NA
  29518008
  29634878
  116871
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 annunziata_21_ASD_discovery_cases-caseIB260
 qPCR, FISH
 
 Maternal
 
 
 MIR4666B,IL1RAPL1
 
 carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-10
 
 
 Paternal
 Simplex
 
 TAB3-AS2,FTHL17,TAB3,DMD
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300523
 qPCR
 
 De novo
 
 
 MAGEB2,MAGEB3,MAGEB4,PLCE1P1,NR0B1,CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,FTHL17,RNU6-894P,MAGEB1,CXorf21,GK-AS1,TAB3-AS1,GK,TAB3,DMD
 
 engchuan_15_ASD_discovery_cases-case14379_4920
 
 
 Unknown
 
 
 TAB3-AS2,FTHL17,TAB3
 
 engchuan_15_ASD_discovery_cases-case5036_4
 
 
 Unknown
 
 
 MIR4666B,IL1RAPL1
 
 engchuan_15_ASD_discovery_cases-case6381_3
 
 
 Unknown
 
 
 CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,GK-AS1,TAB3-AS1,GK,TAB3
 
 engchuan_15_ASD_discovery_cases-case8597_201
 
 
 Unknown
 
 
 DMD
 
 engchuan_15_ASD_discovery_cases-case8634_201
 
 
 Unknown
 
 
 MAGEB3,MAGEB4,PLCE1P1,NR0B1,MAGEB1
 
 husson_20_ASD_discovery_cases-case426
 ddPCR, QMPSF, or aCGH
 
 Maternal
 Simplex
 Unknown
 IL1RAPL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001873
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 IL1RAPL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004248
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DMD
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case19
 
 
 Unknown
 
 
 IL1RAPL1
 
 pham_14_ASD/DD/EP/ID_discovery_cases-case54
 FISH and/or chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IL1RAPL1
 
 pinto_10_ASD_discovery_cases-case5036_4
 Agilent1M
 
 maternal
 Multiplex (sib with Aspberger)
 NA
 MIR4666B,IL1RAPL1
 
 pinto_14_ASD_discovery_cases2-case6381_3
 qPCR
 
 Maternal (X-linked in a male)
 Simplex
 Unknown (1 healthy brother, no DNA)
 CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,GK-AS1,TAB3-AS1,GK,TAB3
 
 prasad_12_ASD_discovery_cases-case60536L
 
 
 Unknown
 Unknown
 Unknown
 IL1RAPL1
 
 qiao_12_ASD_discovery_cases-case10-48A
 QMPSF, MLPA
 
 Maternal
 Simplex
 Unknown
 DMD
 
 rasheed_21_ID_discovery_cases-caseFamMRID165-1
 qPCR
 
 Maternal
 Multiplex
 Segregated
 MIR4666B,IL1RAPL1
 
 rasheed_21_ID_discovery_cases-caseFamMRID165-2
 qPCR
 
 Maternal
 Multiplex
 Segregated
 MIR4666B,IL1RAPL1
 
 rasheed_21_ID_discovery_cases-caseFamMRID165-3
 qPCR
 
 Maternal
 Multiplex
 Segregated
 MIR4666B,IL1RAPL1
 
 sanders_11_ASD_discovery_cases-12977.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 tropeano_13_DD/ASD_discovery_cases-case2
 
 
 Maternal
 
 
 MIR4666B,IL1RAPL1
 
 tropeano_16_ASD_discovery_cases-MAAS24
 MLPA or aCGH
 
 Unknown
 Unknown
 Unknown
 TAB3-AS2,GK-AS1,TAB3-AS1,GK,TAB3
 
 willemsen_12_DD/ID_discovery_cases-case51
 
 
 Maternal+ Grandparental
 
 
 CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,FTHL17,RNU6-894P,CXorf21,GK-AS1,TAB3-AS1,GK,TAB3,DMD
 
 yuen_17_ASD_discovery_cases-case1-0757-003
 Affymetrix CytoScan HD
 
 Maternal
 Simplex
 Unknown
 TAB3-AS2,FTHL17,RNU6-894P,TAB3-AS1,TAB3,DMD
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC10222
  Not available
 
  Unknown
 
 
  IL1RAPL1
 
engchuan_15_ASD_discovery_controls-controlB462693_1007873290
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900266_900266
 
 
  Unknown
 
 
  DMD
 
sanders_11_ASD_discovery_controls-11321.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MIR4666B,IL1RAPL1
 

No Animal Model Data Available
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