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Xq24CNV Type: Deletion-Duplication


Largest CNV size: 124491 bp

Statistics Box:
Number of Reports: 12



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Etiological yield of SNP microarrays in idiopathic intellectual disability.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
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.
Deletion-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
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
 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
 164306
 3
 1
 4
 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
 27259
 1
 0
 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
 405865
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 581715
 0
 3
 3
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 474966
 3
 5
 8
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 43000
 1
 0
 1
 napoli_17_ASD_discovery_cases
 Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
 133
 Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
 Mean, 6.7 3.0 years
 84.96% Male
 60000
 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
 54495
 1
 1
 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
 479120
 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
 124491
 3
 1
 4
 utine_14_DD/ID/ASD_discovery_cases
 Patients referred for genetic evaluation for developmental delay or intellectual disability, with or without accompanying dysmorphic features, single or multiple malformations, growth disorder, behavior disorder and/or autism, and family history of ID/autism (Hacettepe University, Ankara, Turkey)
 100
 Developmental delay (74 cases with prominent motor delay, 86 with delayed mental milestones; 67 with both) and/or intellectual disability (18 cases with mild ID, 48 with moderate ID, 34 with severe ID); 36 cases with problems in social interactions (considered as "autistic features); 30 cases with history of at least one seizures; 89 cases with brain imaging (normal in 61 cases).
 Range, 2-22 yrs. (mean age, 10.8 yrs.)
 75% Male
 130000
 1
 0
 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
 200000
 1
 1
 2

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
 36166
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 119173
 1
 7
 8
 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)
 54495
 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.
 
 124491
 4
 3
 7

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 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)
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 None
 napoli_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome 4x180K
 ADM-2
 Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
 RT-PCR
 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
 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
 
 
 utine_14_DD/ID/ASD_discovery_cases
  Turkey
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.0
 RT-PCR
 willemsen_12_DD/ID_discovery_cases
  Netherlands
 aCGH, array SNP
  Agilent 32K BAC array, Affymetrix 250K
 
 CNAG V2.0 (SNP array)
 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
  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)
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_cases-case2203_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 120377208
 120424539
  47332
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2305_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 121341094
 121409266
  68173
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3018_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 121607550
 121670227
  62678
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6240_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 121144254
 121308560
  164307
 GRCh38
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case554-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 119326507
 119353766
  27260
 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
 119650656
 120056519
  405864
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002497
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 118469705
 119051420
  581716
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004168
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 118537419
 119000684
  463266
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005284
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 118537419
 119000684
  463266
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11074.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 120376379
 120379634
  3256
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11549.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 119903223
 119920607
  17385
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12184.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 119903223
 119920607
  17385
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13311.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 119903223
 119920607
  17385
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13391.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 119903494
 119920607
  17114
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13861.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 118542724
 119017690
  474967
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14279.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 119903223
 119920607
  17385
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14495.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 119240308
 119243254
  2947
 GRCh38
 Deletion
 Yes
  lesca_12_EP_discovery_cases-caseDX94
 NA
 F
 Epilepsy
 Phenotype: s-CSWSS . Seizure Characteristics: Nocturnal, absences. Autistic features: No. ADHD features: No. Other features: Right frontal PMG.
 Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 76, performance IQ 51 (at 11 years of age).
 121354632
 121397280
  42649
 GRCh38
 Deletion
 No
  napoli_17_ASD_discovery_cases-case1
 N/A
 F
 ASD
 Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XX
 
 119610337
 119669985
  59649
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case113499L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 118310532
 118365026
  54495
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case84657
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 118319655
 118354102
  34448
 Unknown
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_268
 7 yrs.
 M
 ASD and intellectual disability
 ASD
 Intellectual disability
 119639199
 120118371
  479173
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11074.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 75; verbal IQ, 58
 120377208
 120435478
  58271
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11316.p1
 11.7
 F
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 45; verbal IQ, 21
 119748537
 119873028
  124492
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11913.p1
 4.5
 F
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 99; verbal IQ, 105
 120719298
 120727223
  7926
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12782.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 76; verbal IQ, 77
 121569730
 121583547
  13818
 GRCh38
 Deletion
 No
  utine_14_DD/ID/ASD_discovery_cases-case6
 3 yrs.
 M
 Developmental delay
 Referred at 15 months of age due to delay in growth and development. Developmental milestones: unable to sit, walk or talk at age of 3 years. Behavioral/psychiatric evaluation: no autism or autistic features. Epilepsy/seizures: no. Brain imaging: brain MRI showed thin corpus callosum, marked at the posterior 1/3. Other features: renal ultrasound revealed right renal rotation abnormality and dilatation of renal pelvis. Dysmorphic features: synophrys, hypertelorism, short nose, branchial pit, hypospadias. Growth parameters: microcephaly (head circumference of 42 cm, <3rd %ile), growth delay [weight of 7.5 kg (<3rd %ile) and height of 73 cm (<10th %ile)].
 Severe DD/ID (mean area of delay/disability: global)
 N/A
 N/A
  130000
 Unknown
 Deletion
 Yes
  willemsen_12_DD/ID_discovery_cases-case13
 
 M
 Intellectual disability and epilepsy
 Microcephaly, VSD, genital, skeletal, intestinal and immunological problems, seizures
 Moderate-severe ID
 119382009
 119582009
  200001
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case30
 
 M
 Noonan syndrome
 Clinical diagnosis of Noonan syndrome
 
 118482009
 118682009
  200001
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036024040_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  119723008
  119759174
  36167
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11074.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  120376379
  120379634
  3256
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11234.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  119903223
  119920607
  17385
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11316.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  119786683
  119872013
  85331
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12184.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  119903223
  119920607
  17385
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12892.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  119903223
  119920607
  17385
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13250.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  117909300
  118028473
  119174
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13619.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  119903223
  119920607
  17385
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14279.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  119903223
  119920607
  17385
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11074.s1
  7.3
  M
  Control (matched sibling)
  NA
  NA
  120377208
  120435478
  58271
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11121.s1
  16.2
  F
  Control (matched sibling)
  NA
  NA
  119520076
  119524082
  4007
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11184.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  119727019
  119731159
  4141
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11316.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  119748537
  119873028
  124492
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11913.s1
  5.9
  F
  Control (matched sibling)
  NA
  NA
  120719298
  120727223
  7926
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12030.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  119251815
  119275666
  23852
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12462.s1
  20.8
  F
  Control (matched sibling)
  NA
  NA
  120719298
  120727223
  7926
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case2203_1
 
 
 Unknown
 
 
 ATP1B4
 
 engchuan_15_ASD_discovery_cases-case2305_1
 
 
 Unknown
 
 
 MIR3672
 
 engchuan_15_ASD_discovery_cases-case3018_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6240_4
 
 
 Unknown
 
 
 HSPA8P1
 
 gazzellone_14_ASD_discovery_cases-case554-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 iourov_12_ASD/ID/EP_discovery_cases-case50
 
 
 Unknown
 Unknown
 Unknown
 SOWAHD,RPL39,SNORA69,RNF113A,NDUFA1,RHOXF1P2,UPF3B,AKAP14,RHOXF1P3,RHOXF1P1,SEPT6,NKAP,RHOXF1-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002497
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RBBP8P1,ZCCHC12,DOCK11,IL13RA1,LINC01285,LONRF3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004168
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RBBP8P1,ZCCHC12,DOCK11,IL13RA1,LINC01285,LONRF3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005284
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RBBP8P1,ZCCHC12,DOCK11,IL13RA1,LINC01285,LONRF3
 
 krumm_15_ASD_discovery_cases-case11074.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ATP1B4
 
 krumm_15_ASD_discovery_cases-case11549.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 AKAP14
 
 krumm_15_ASD_discovery_cases-case12184.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AKAP14
 
 krumm_15_ASD_discovery_cases-case13311.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 AKAP14
 
 krumm_15_ASD_discovery_cases-case13391.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AKAP14
 
 krumm_15_ASD_discovery_cases-case13861.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 RBBP8P1,ZCCHC12,DOCK11,IL13RA1,LINC01285,LONRF3
 
 krumm_15_ASD_discovery_cases-case14279.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AKAP14
 
 krumm_15_ASD_discovery_cases-case14495.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 PGRMC1
 
 lesca_12_EP_discovery_cases-caseDX94
 
 
 Unknown
 Unknown
 Unknown
 MIR3672
 
 napoli_17_ASD_discovery_cases-case1
 RT-PCR
 
 Unknown
 
 
 MIR766,SEPT6
 
 prasad_12_ASD_discovery_cases-case113499L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case84657
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 quintela_17_DD/ID_discovery_cases-caseID_268
 
 
 Unknown
 
 Unknown
 MIR766,SOWAHD,RPL39,SNORA69,RNF113A,NDUFA1,RHOXF1P2,RHOXF2B,LINC01402,UPF3B,AKAP14,RHOXF1P3,RHOXF1P1,RHOXF1,SEPT6,NKAP,RHOXF1-AS1
 
 sanders_11_ASD_discovery_cases-11074.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP1B4,LAMP2
 
 sanders_11_ASD_discovery_cases-11316.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SOWAHD,RPL39,SNORA69,RNF113A,NDUFA1,UPF3B
 
 sanders_11_ASD_discovery_cases-11913.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12782.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 utine_14_DD/ID/ASD_discovery_cases-case6
 RT-PCR
 
 Maternal
 Unknown
 Unknown
 SEPT6, NKRF, UBE2A
 
 willemsen_12_DD/ID_discovery_cases-case13
 
 
 Maternal
 
 
 RNU1-67P,RN7SL118P,RNY3P16,SLC25A5-AS1,SLC25A5,CXorf56,UBE2A,SLC25A43
 
 willemsen_12_DD/ID_discovery_cases-case30
 
 
 Maternal
 
 
 RBBP8P1,DOCK11
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036024040_
 
 
  Unknown
 
 
  SOWAHD
 
krumm_15_ASD_discovery_controls-control11074.s1
  Illumina 1M
 
  Maternal
 
 
  ATP1B4
 
krumm_15_ASD_discovery_controls-control11234.s1
  Illumina 1M
 
  Paternal
 
 
  AKAP14
 
krumm_15_ASD_discovery_controls-control11316.s1
  Illumina 1M
 
  Paternal
 
 
  RPL39,SNORA69,RNF113A,NDUFA1,UPF3B
 
krumm_15_ASD_discovery_controls-control12184.s1
  Illumina 1MDuo
 
  Paternal
 
 
  AKAP14
 
krumm_15_ASD_discovery_controls-control12892.s1
  Illumina 1MDuo
 
  Paternal
 
 
  AKAP14
 
krumm_15_ASD_discovery_controls-control13250.s1
  1M-Duov3
 
  Paternal
 
 
  KLHL13
 
krumm_15_ASD_discovery_controls-control13619.s1
  Omni2.5-4v1
 
  Maternal
 
 
  AKAP14
 
krumm_15_ASD_discovery_controls-control14279.s1
  Omni2.5-4v1
 
  Maternal
 
 
  AKAP14
 
sanders_11_ASD_discovery_controls-11074.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP1B4,LAMP2
 
sanders_11_ASD_discovery_controls-11121.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11184.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11316.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SOWAHD,RPL39,SNORA69,RNF113A,NDUFA1,UPF3B
 
sanders_11_ASD_discovery_controls-11913.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12030.s1
 
 
  Both parents
  Simplex (quad)
  NA
  AKAP17BP
 
sanders_11_ASD_discovery_controls-12462.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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