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2q24.2CNV Type: Deletion-Duplication


Largest CNV size: 99252 bp

Statistics Box:
Number of Reports: 17



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
Strong association of de novo copy number mutations with autism.
Deletion
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Deletion
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
NA
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Deletion
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-Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 14154
 1
 0
 1
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 7416
 1
 0
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 519428
 1
 0
 1
 fasham_24_DD/ID_discovery_cases
 Similarly affected brothers carrying a homozygous 2q24.2 deletion affecting the SLC4A10 gene who were born to consanguineous (first-cousin) Palestinian parents.
 2
 Both brothers presented with developmental delay (characterized by delayed ability to walk and absent speech) and severe intellectual disability; the older brother also presented with seizures, while the younger brother also presented with stereotypy.
 Range, 7 yrs. 8 mos.-8 yrs. 10 mos.
 Male
 49884
 4
 0
 4.1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 19881
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 19881
 1
 1
 2
 o'roak_12_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
 122
 ASD/autism
 NA
 NA
 65153
 0
 1
 1
 palumbo_14_ID_discovery_cases
 Eldest of three children of healthy and non-consanguineous parents, with no family history of intellectual disability, congenital anomalies, or neurological disorders, referred to genetics clinic for investigation regarding short stature and psychomotor disability
 1
 Moderate-to-severe intellectual disability (ID), behavioral problems with impulsivity and aggressiveness, language delay, and growth retardation/short stature
 12 yrs.
 Male
 122000
 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
 318000
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 14367
 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
 139749
 0
 1
 1
 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
 285644
 0
 1
 1
 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
 64675
 11
 2
 13
 sebat_07_ASD_discovery_cases
 118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
 195
 Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
 
 
 99252
 1
 0
 1
 sewani_23_ASD/DD/ID_discovery_cases
 Three cases with 2q24.2 microdeletions affecting the BAZ2B gene (from an initial cohort of 10 unrelated individuals with BAZ2B variants identified through personal communications or the DECIPHER database)
 3
 All three cases presented with developmental delay (DD) in addition to autism spectrum disorder (ASD) and/or intellectual disability (ID).
 Range, 5 yrs.-8 yrs. 3 mos.
 66.67% Male
 1229396
 3
 0
 3
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 2200000
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 128896
 0
 2
 2
 yuan_23_ASD_discovery_cases
 ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
 369
 Cases diagnosed with ASD using DSM-IV.
 NA
 NA
 828833
 2
 0
 2

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
 6430
 0
 1
 1
 brandler_18_ASD_replication_controls
 Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
 584
 Control (unaffected siblings from simplex quad families)
 N/A
 N/A
 7416
 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
 163775
 0
 1
 1
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 192694
 0
 1
 1
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 19881
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 19881
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 68935
 0
 2
 2
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 0
 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.
 
 71673
 9
 3
 12
 sebat_07_ASD_discovery_controls
 Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
 196
 Controls
 
 
 99252
 0
 0
 0
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 128896
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 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
 fasham_24_DD/ID_discovery_cases
  Palestinian
 WGS
  NA
 NA.1
 SavvyCNV
 ddPCR
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 o'roak_12_ASD_discovery_cases
  NA
 WES
  NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
 HMM
 mrsFAST aligner
 aCGH, Sanger sequencing
 palumbo_14_ID_discovery_cases
  Italy
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 Array SNP (Affymetrix CytoScan HD)
 pham_14_ASD/DD/EP/ID_discovery_cases
  N/A
 aCGH
  BCM V8 OLIGO array
 
 
 FISH, chromosome analysis
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 qiao_12_ASD/ID_discovery_cases
  Canadian
 Array SNP
  Affymetrix 2.7M
 
 Affymetrix ChAS v.1.1
 QMPSF
 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
 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
 
 
 sebat_07_ASD_discovery_cases
 
 ROMA
 
 HMM
 S-PLUS
 390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
 sewani_23_ASD/DD/ID_discovery_cases
 
 CMA, aCGH
 
 
 
 qPCR
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 yuan_23_ASD_discovery_cases
  China
 WES
  Illumina HiSeq
 NA
 GATK v.4.2.0.0.
 None

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
 
  PCR, array SNP
  brandler_18_ASD_replication_controls
  N/A
  WGS
  Illumina HiSeq X10
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  sebat_07_ASD_discovery_controls
 
  ROMA
 
  HMM
  S-PLUS
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_cases-caseMT_18.3
 N/A
 M
 ASD
 Case from REACH cohort
 
 161415101
 161429255
  14155
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_replication_cases-caseSSC07799
 N/A
 M
 ASD
 Case from SSC_phase2 cohort
 
 159730623
 159738038
  7416
 GRCh38
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_296507
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 161985109
 162504536
  519428
 GRCh38
 Deletion
 Yes
  fasham_24_DD/ID_discovery_cases-caseFam1-III:1
 8 yrs. 10 mos.
 M
 Developmental delay, intellectual disability, and seizures
 Microcephaly (OFC -2.3 SD), delayed ability to walk (after 2 years), absent speech, anxiety, hyperactivity, seizures, reduced central tone, increased peripheral tone, exaggerated or brisk tendon reflexes, slit lateral ventricles, dysmorphic corpus callosum, distorted configuration of fornix/septum pellucidum. Family history: born to consanguineous Palestinian parents, similarly affected brother.
 Severe intellectual disability
 161846109
 161895992
  49884
 GRCh38
 Homozygous deletion
 Yes
  fasham_24_DD/ID_discovery_cases-caseFam1-III:2
 7 yrs. 8 mos.
 M
 Developmental delay, intellectual disability, and stereotypy
 Microcephaly (OFC -3.4 SD), delayed ability to walk (5 years), absent speech, anxiety, stereotypies, hyperactivity, possible seizures, reduced central tone, increased peripheral tone, exaggerated or brisk tendon reflexes, slit lateral ventricles, dysmorphic corpus callosum, distorted configuration of fornix/septum pellucidum, inverted nipples. Family history: born to consanguineous Palestinian parents, similarly affected brother.
 Severe intellectual disability
 161846109
 161895992
  49884
 GRCh38
 Homozygous deletion
 Yes
  krumm_13_ASD_discovery_cases-case11711.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11711. SRS score of 88.
 Full-scale IQ (FSIQ) score of 94.
 159729022
 159748903
  19882
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11544.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 159248371
 159256377
  8007
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11711.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 159729022
 159748903
  19882
 GRCh38
 Duplication
 Yes
  o'roak_12_ASD_discovery_cases-case11711.p1
 NA
 M
 ASD/Autism
 Case also identified with de novo KIAA0182 missense mutation. No additional clinical info available.
 High IQ. Non verbal IQ, 97
 159683750
 159748903
  65154
 GRCh38
 Duplication
 Yes
  palumbo_14_ID_discovery_cases-case1
 12 yrs.
 M
 Intellectual disability
 Patient referred to genetics clinic for investigation regarding short stature and psychomotor disability. Birth/neonatal history: born at 41 weeks gestation after C-section performed due to fetal distress; birth weight of 2870 g (<3rd %ile), height of 49 cm (10th %ile) (head circumference N/A). Developmental milestones: motor development within normal range; language delay. Language and communication evaluation: language delay. Motor and musculoskeletal evaluation: normal motor development; scapular winging, pectus excavatum, hands with long and narrow palms, long fingers. Behavioral/psychiatric evaluation: behavioral problems with impulsivity and aggressiveness. EEG: no paroxysmal anomalies while awake, but rare sharp waves and spike on central and vertex region during sleep. Brain imaging: no structural brain anomalies observed on brain MRI. Vision and hearing evaluation: moderate astigmatism; normal audiometric examination. Dysmorphic features: mild facial dysmorphism such as right palpebral ptosis. Growth parameters: weight of 26.6 kg (<3rd %ile), height of 137 cm (<25th %ile), and head circumference of 50.5 cm (-2 SD). Family history: Eldest of three children of healthy and non-consanguineous parents; no family history of intellectual disability, congenital anomalies, or neurological disorders.
 Moderate-to-severe ID (WISC IQ score of 35)
 161413377
 161535156
  121780
 GRCh38
 Deletion
 Yes
  pham_14_ASD/DD/EP/ID_discovery_cases-case35
 19 yrs.
 M
 Developmental delay
 Indication for study: developmental delay. Level of mosaicism: 50% by CMA; 61% by FISH.
 
 161111122
 161428835
  317714
 GRCh38
 Mosaic deletion
 Yes
  poultney_13_ASD_discovery_cases-case04HI3375A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1334303; NDAR ID N/A)
 
 159136192
 159150558
  14367
 GRCh38
 Deletion
 No
  qiao_12_ASD_discovery_cases-case10-69A
 NA
 NA
 ASD and/or ID
 NA
 NA
 163147484
 163287233
  139749
 Unknown
 Duplication
 Yes
  quintela_17_DD/ID_discovery_cases-caseID_88
 9 yrs.
 M
 Intellectual disability and epilepsy
 Epilepsy
 Intellectual disability
 159106964
 159392608
  285645
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11043.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 106
 159103075
 159104939
  1865
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11098.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
 160553048
 160600336
  47289
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11146.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 80
 159103075
 159104939
  1865
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11227.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
 159103075
 159104939
  1865
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11233.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
 159103075
 159104939
  1865
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11242.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
 159103075
 159104939
  1865
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11352.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
 159103075
 159104939
  1865
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11466.p1
 9.2
 M
 Aspergers
 NA
 Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
 159811597
 159817015
  5419
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11479.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
 161723874
 161744682
  20809
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11584.p1
 11.5
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 75; verbal IQ, 73
 159103075
 159104939
  1865
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11711.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
 159683750
 159748425
  64676
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12187.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 105
 161812774
 161847508
  34735
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12480.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
 161883839
 161892546
  8708
 GRCh38
 Deletion
 No
  sebat_07_ASD_discovery_cases-63-144-2575
 NA
 F
 Autism
 NA
 NA
 162212720
 162311972
  99252
 Unknown
 Deletion
 Yes
  sewani_23_ASD/DD/ID_discovery_cases-caseS1
 5 yrs.
 F
 ASD and developmental delay
 Small for gestational age, developmental delay, autism spectrum disorder, delayed ability to walk (24 months), speech delay (first words at 3 years), hyperactivity, relative microcephaly.
 
 158987556
 160216951
  1229396
 GRCh38
 Deletion
 No
  sewani_23_ASD/DD/ID_discovery_cases-caseS2
 6 yrs.
 M
 ASD, developmental delay, and intellectual disability
 Pregnancy complicated by later prenatal care and maternal use of alcohol, marijuana, and methamphetamine, atrioventricular canal defect, developmental delay, autism spectrum disorder, speech delay (language limited to 500 words and 3-word phrases), behavioral abnormalities (boundary issues, affinity for rigid routines, apparent lack of empathy, picky eating behavior, poor sleep), pseudostrabismus verses intermittent accommodative esotropia of the left eye, mild myopia of the right eye, mild hyperopia of the left eye, moderate bilateral astigmatism, mildly high bitemporal hairline, hypoplastic nipples, mild fifth finger clinodactyly; patient was adopted.
 Mild intellectual disability
 159373133
 159500591
  127459
 GRCh38
 Deletion
 No
  sewani_23_ASD/DD/ID_discovery_cases-caseS3
 8 yrs. 3 mos.
 M
 Developmental delay, intellectual disability, and seizures
 Case from DECIPHER (ID 391176). Premature birth (35 weeks gestation), developmental delay, expressive language delay, bilateral tonic-clonic seizures, poor feeding, unilateral strabismus, hypermetropia, xerosis, decreased body weight (-2.5 SD), microcephaly (<1st %ile, -3 SD), decreased body mass index (1st %ile, -2.5 SD), and arachnodactyly. Family history: BAZ2B deletion was inherited from his father, who had a mild learning disability but was otherwise asymptomatic with normal head circumference; family history was otherwise significant for a maternal uncle with intellectual disability who was unavailable for genetic testing.
 Moderate intellectual disability
 159438371
 159655041
  216671
 GRCh38
 Deletion
 Yes
  tzetis_12_DD/ID_discovery_cases-case69
 
 M
 DD/ID
 Trigonocephaly, micrognathia, arched palate, flat nasal bridge, eyelid ptosis, hypertelorism, hypotonia, single palmar crease,joint laxity
 
 160216892
 162384918
  2168027
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case86
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 159191746
 159224825
  33080
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case87
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 159422813
 159551708
  128896
 GRCh38
 Duplication
 No
  yuan_23_ASD_discovery_cases-qma01547s000
 NA
 NA
 ASD
 Case diagnosed with ASD according to DSM-IV criteria.
 
 161408588
 161424479
  15892
 GRCh38
 Deletion
 No
  yuan_23_ASD_discovery_cases-qma01547s000
 NA
 NA
 ASD
 Case diagnosed with ASD according to DSM-IV criteria.
 
 161708500
 162537332
  828833
 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
  brandler_18_ASD_discovery_controls-controlREACH000371
  N/A
  F
  Control
  Control from REACH cohort
 
  161160244
  161166674
  6431
  GRCh38
  Duplication
  Yes
  brandler_18_ASD_replication_controls-controlSSC07811
  N/A
  M
  control
  Control from SSC_phase2 cohort
 
  159730623
  159738038
  7416
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB967654_1007872241
  N/A
  N/A
  Control
  No previous psychiatric history
 
  159232282
  159396057
  163776
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1801
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  160321788
  160514481
  192694
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11711.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11711. SRS score of 48.
 
  159729022
  159748903
  19882
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11711.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  159729022
  159748903
  19882
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11303.s1
  NA
  M
  Control
  NA
  NA
  159292312
  159349834
  57523
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11711.s1
  NA
  M
  Control
  NA
  NA
  159678938
  159747872
  68935
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11092.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  159103075
  159104939
  1865
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11107.s1
  3.7
  M
  Control (matched sibling)
  NA
  NA
  159103075
  159104939
  1865
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11146.s1
  9.7
  M
  Control (matched sibling)
  NA
  NA
  159103075
  159104939
  1865
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11172.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  159103075
  159104939
  1865
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11303.s1
  4.5
  M
  Control (matched sibling)
  NA
  NA
  159295276
  159347915
  52640
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11356.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  159103075
  159104939
  1865
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11365.s1
  13.1
  F
  Control (matched sibling)
  NA
  NA
  159103075
  159104939
  1865
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11422.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  159103075
  159104939
  1865
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11479.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  161730373
  161744682
  14310
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11676.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  159103075
  159104939
  1865
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11711.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  159677084
  159748757
  71674
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12187.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  161812774
  161847508
  34735
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseMT_18.3
 SNP VCF
 
 De novo
 
 
 TBR1,SLC4A10
 
 brandler_18_ASD_replication_cases-caseSSC07799
 No validation step reported
 
 Paternal
 
 
 MARCH7
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_296507
 qPCR
 
 De novo
 
 
 TIMM8AP1,EIF3EP2,GCG,RNA5SP109,FAP,GCA,DPP4,IFIH1,SLC4A10,KCNH7
 
 fasham_24_DD/ID_discovery_cases-caseFam1-III:1
 ddPCR
 Unnamed: 16
 Both parents
 Multiplex
 Segregated
 SLC4A10
 Unnamed: 21
 fasham_24_DD/ID_discovery_cases-caseFam1-III:2
 ddPCR
 
 Both parents
 Multiplex
 Segregated
 SLC4A10
 
 krumm_13_ASD_discovery_cases-case11711.p1
 
 
 Maternal
 Simplex
 Not segregated
 MARCH7
 
 krumm_15_ASD_discovery_cases-case11544.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 WDSUB1
 
 krumm_15_ASD_discovery_cases-case11711.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MARCH7
 
 o'roak_12_ASD_discovery_cases-case11711.p1
 aCGH, Sanger sequencing
 
 Maternal
 Simplex (quad)
 Unknown
 MARCH7
 
 palumbo_14_ID_discovery_cases-case1
 Array SNP (Affymetrix CytoScan HD)
 
 De novo
 Simplex
 Segregated
 TBR1,AHCTF1P1,SLC4A10
 
 pham_14_ASD/DD/EP/ID_discovery_cases-case35
 FISH and/or chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01806,RNA5SP108,TBR1,TANK,PSMD14,SLC4A10
 
 poultney_13_ASD_discovery_cases-case04HI3375A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TANC1
 
 qiao_12_ASD_discovery_cases-case10-69A
 QMPSF
 
 De novo
 Unknown
 Unknown
 KCNH7
 
 quintela_17_DD/ID_discovery_cases-caseID_88
 
 
 Unknown
 
 Unknown
 MIR6888,TANC1,WDSUB1,BAZ2B
 
 sanders_11_ASD_discovery_cases-11043.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 TANC1
 
 sanders_11_ASD_discovery_cases-11098.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11146.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 TANC1
 
 sanders_11_ASD_discovery_cases-11227.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 TANC1
 
 sanders_11_ASD_discovery_cases-11233.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 TANC1
 
 sanders_11_ASD_discovery_cases-11242.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 TANC1
 
 sanders_11_ASD_discovery_cases-11352.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 TANC1
 
 sanders_11_ASD_discovery_cases-11466.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 LY75,LY75-CD302
 
 sanders_11_ASD_discovery_cases-11479.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC4A10
 
 sanders_11_ASD_discovery_cases-11584.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TANC1
 
 sanders_11_ASD_discovery_cases-11711.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MARCH7
 
 sanders_11_ASD_discovery_cases-12187.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SLC4A10
 
 sanders_11_ASD_discovery_cases-12480.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 SLC4A10
 
 sebat_07_ASD_discovery_cases-63-144-2575
 390K ROMA or Agilent 244K aCGH
 
 De novo
 Simplex
 NA
 SLC4A10
 
 sewani_23_ASD/DD/ID_discovery_cases-caseS1
 
 
 De novo
 
 
 BAZ2B,MARCHF7,TANC1,WDSUB1,ITGB6,BTF3L4P2,RPS3AP13,LY75,GSTM3P2,CAPZA1P2,LY75-CD302,MIR6888,RNU6-580P,CD302,PLA2R1
 
 sewani_23_ASD/DD/ID_discovery_cases-caseS2
 
 
 Unknown
 
 
 BAZ2B,CAPZA1P2
 
 sewani_23_ASD/DD/ID_discovery_cases-caseS3
 qPCR
 Paternal
 Paternal
 
 
 BAZ2B,CAPZA1P2
 
 tzetis_12_DD/ID_discovery_cases-case69
 
 
 Unknown
 Unknown
 
 MIR4785,RN7SL423P,LINC01806,RNA5SP108,TBR1,AHCTF1P1,KRT18P46,RPEP5,TIMM8AP1,EIF3EP2,GCG,LINC02478,FAP,GCA,TANK,PSMD14,DPP4,IFIH1,RBMS1,SLC4A10,KCNH7
 
 yin_16_ASD_discovery_cases-case86
 
 
 Unknown
 Unknown
 Unknown
 TANC1
 
 yin_16_ASD_discovery_cases-case87
 
 
 Unknown
 Unknown
 Unknown
 BAZ2B
 
 yuan_23_ASD_discovery_cases-qma01547s000
 
 
 De novo
 
 
 SLC4A10,RNA5SP108,PSMD14,TBR1
 
 yuan_23_ASD_discovery_cases-qma01547s000
 
 
 De novo
 
 
 DPP4,FAP,SLC4A10,IFIH1,KCNH7,GCG,TIMM8AP1,EIF3EP2,DPP4-DT,RNA5SP109,RPEP5,GCA
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlREACH000371
  SNP VCF
 
  De novo
 
 
  TANK
 
brandler_18_ASD_replication_controls-controlSSC07811
  No validation step reported
 
  Paternal
 
 
  MARCH7
 
engchuan_15_ASD_discovery_controls-controlB967654_1007872241
 
 
  Unknown
 
 
  TANC1,WDSUB1,BAZ2B
 
kanduri_15_ASD_discovery_controls-control_split1801
 
 
  Unknown
 
 
  BAZ2B
 
krumm_13_ASD_discovery_controls-control11711.s1
 
 
  Maternal
  Simplex
 
  MARCH7
 
krumm_15_ASD_discovery_controls-control11711.s1
  Illumina 1MDuo
 
  Maternal
 
 
  MARCH7
 
levy_11_ASD_discovery_controls-11303.s1
 
 
  Paternal
  Simplex
  NA
  BAZ2B
 
levy_11_ASD_discovery_controls-11711.s1
 
 
  Maternal
  Simplex
  NA
  MARCH7
 
sanders_11_ASD_discovery_controls-11092.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TANC1
 
sanders_11_ASD_discovery_controls-11107.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TANC1
 
sanders_11_ASD_discovery_controls-11146.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TANC1
 
sanders_11_ASD_discovery_controls-11172.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TANC1
 
sanders_11_ASD_discovery_controls-11303.s1
 
 
  Paternal
  Simplex (quad)
  NA
  BAZ2B
 
sanders_11_ASD_discovery_controls-11356.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TANC1
 
sanders_11_ASD_discovery_controls-11365.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TANC1
 
sanders_11_ASD_discovery_controls-11422.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TANC1
 
sanders_11_ASD_discovery_controls-11479.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC4A10
 
sanders_11_ASD_discovery_controls-11676.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TANC1
 
sanders_11_ASD_discovery_controls-11711.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MARCH7
 
sanders_11_ASD_discovery_controls-12187.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SLC4A10
 

No Animal Model Data Available
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