8p23.1
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
1061425Range
8123460-11384691Associated Human Genes
MCPH1, MSRAAssociated Mouse Models
-Autism Reports
41Populations
51 (45 case / 6 control)Individuals
419 (331 case / 88 control)Summary
Summary statement in development
External Links
Reports related to 8p23.1 (41 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Major | Mapping autism risk loci using genetic linkage and chromosomal rearrangements. | Autism Genome Project Consortium , et al. (2007) |
| 2 | Minor | Identifying autism loci and genes by tracing recent shared ancestry. | Morrow EM , et al. (2008) |
| 3 | Minor | Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders. | Ozgen HM , et al. (2009) |
| 4 | Major | Functional impact of global rare copy number variation in autism spectrum disorders. | Pinto D , et al. (2010) |
| 5 | Minor | Rare structural variation of synapse and neurotransmission genes in autism. | Gai X , et al. (2011) |
| 6 | Minor | Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. | Nord AS , et al. (2011) |
| 7 | Minor | Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. | Sanders SJ , et al. (2011) |
| 8 | Minor | Rare de novo and transmitted copy-number variation in autistic spectrum disorders. | Levy D , et al. (2011) |
| 9 | Minor | Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. | Chung BH , et al. (2011) |
| 10 | Major | Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. | van Daalen E , et al. (2011) |
| 11 | Major | An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... | Kaminsky EB , et al. (2011) |
| 12 | Major | Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. | Celestino-Soper PB , et al. (2011) |
| 13 | Minor | Rare deletions at the neurexin 3 locus in autism spectrum disorder. | Vaags AK , et al. (2012) |
| 14 | Minor | Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. | Leblond CS , et al. (2012) |
| 15 | Minor | Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis. | Davis LK , et al. (2012) |
| 16 | Minor | The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization. | Tzetis M , et al. (2012) |
| 17 | Major | Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi... | Lesca G , et al. (2012) |
| 18 | Major | Phenotypic heterogeneity of genomic disorders and rare copy-number variants. | Girirajan S , et al. (2012) |
| 19 | Minor | A discovery resource of rare copy number variations in individuals with autism spectrum disorder. | Prasad A , et al. (2013) |
| 20 | Major | Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. | Girirajan S , et al. (2013) |
| 21 | Minor | Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. | Lionel AC , et al. (2013) |
| 22 | Minor | Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. | Nava C , et al. (2013) |
| 23 | Minor | Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. | Poultney CS , et al. (2013) |
| 24 | Minor | Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. | Sajan SA , et al. (2013) |
| 25 | Minor | Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. | Egger G , et al. (2014) |
| 26 | Minor | Copy number variation in Han Chinese individuals with autism spectrum disorder. | Gazzellone MJ , et al. (2014) |
| 27 | Minor | Refining analyses of copy number variation identifies specific genes associated with developmental delay. | Coe BP , et al. (2014) |
| 28 | Minor | Performance of case-control rare copy number variation annotation in classification of autism. | Engchuan W , et al. (2015) |
| 29 | Major | Excess of rare, inherited truncating mutations in autism. | Krumm N , et al. (2015) |
| 30 | Minor | The landscape of copy number variations in Finnish families with autism spectrum disorders. | Kanduri C , et al. (2015) |
| 31 | Minor | Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis... | Shin S , et al. (2015) |
| 32 | Minor | Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. | Yin CL , et al. (2016) |
| 33 | Major | Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. | Fry AE , et al. (2016) |
| 34 | Minor | Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders. | Picinelli C , et al. (2016) |
| 35 | Minor | Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. | Leppa VM , et al. (2016) |
| 36 | Minor | Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability. | Sansovi I , et al. (2017) |
| 37 | Minor | Paternally inherited cis-regulatory structural variants are associated with autism. | Brandler WM , et al. (2018) |
| 38 | Minor | Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. | Kushima I , et al. (2018) |
| 39 | Minor | Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes | Feliciano P et al. (2019) |
| 40 | Major | Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder | Kushima I et al. (2022) |
| 41 | Minor | - | Yuan B et al. (2023) |
Show all Case Details
Show all Cohort Details
8p23.1
Description:
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
Diagnosis:
Cases diagnosed with ASD
Brandler WM , et al. (2018)Cohort Size: 1979
Age Min: -
Age Max: -
Average: -
Male: 67
Female: 33
Unknown: -
CNV Size: 280441
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
WGS
Validation Method:
None
Platform: Illumina HiSeq X10
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A
8p23.1
Description:
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
Diagnosis:
ASD
Celestino-Soper PB , et al. (2011)Cohort Size: 99
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 469019
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
Solid phase hybridization (Illumina 1M SNP)
Platform: Agilent 1M
Software: Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Algorithm: ADM-2
Geographical Ancestry: -
8p23.1
Description:
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
Diagnosis:
ASD (ADI-R and ADOS, Module 3)
Chung BH , et al. (2011)Cohort Size: 1
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 220142
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
Array SNP
Validation Method:
-
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.2.1, Birdseed v.2
Algorithm: HMM
Geographical Ancestry: Scottish-Canadian
8p23.1
Description:
Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
Diagnosis:
Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
Davis LK , et al. (2012)Cohort Size: 1
Age Min: 144
Age Max: 144
Average: 144
Male: 100
Female: -
Unknown: -
CNV Size: 698982
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Human 1M-Duo DNA Analysis Bead Chip
Software: CNVision
Algorithm: PennCNV, QuantiSNP, Gnosis
Geographical Ancestry: NA
8p23.1
Description:
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
Diagnosis:
Intellectual disability, developmental delay, and/or ASD
Coe BP , et al. (2014)Cohort Size: 29085
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 3800000
Deletion: 8
Duplication: 6
Total CNV: 14
Discovery Method:
aCGH
Validation Method:
None
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A
8p23.1
Description:
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
Diagnosis:
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
Egger G , et al. (2014)Cohort Size: 73
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 31990
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 6.0
Software: -
Algorithm: Birdsuite, iPattern, Affymetrix Genotyping Console
Geographical Ancestry: 68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
8p23.1
Description:
Samples from the Autism Genome Project (AGP)
Diagnosis:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Engchuan W , et al. (2015)Cohort Size: 1892
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 649995
Deletion: 13
Duplication: 27
Total CNV: 40
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
8p23.1
Description:
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
Diagnosis:
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
Gai X , et al. (2011)Cohort Size: 631
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1295374
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European
8p23.1
Description:
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
Diagnosis:
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Fry AE , et al. (2016)Cohort Size: 80
Age Min: 492
Age Max: 492
Average: 492
Male: 100
Female: -
Unknown: -
CNV Size: 491000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, solid phase hybridization
Validation Method:
Solid phase hybridization (Illumina)
Platform: Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
Software: Illumina BlueFuse Multi v3.1
Algorithm: PennCNV
Geographical Ancestry: 78 White British, 1 South Asian, 1 Mixed White/South Asian
8p23.1
Description:
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
Diagnosis:
All cases diagnosed with ASD
Feliciano P et al. (2019)Cohort Size: 465
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 3601691
Deletion: 1
Duplication: 2
Total CNV: 3
Discovery Method:
WES
Validation Method:
None
Platform: Illumina HumanCoreExome 550K
Software: CoNIFER, XHMM
Algorithm: -
Geographical Ancestry: N/A
8p23.1
Description:
Replication case samples derived from AGRE sets 1-3
Diagnosis:
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
Gai X , et al. (2011)Cohort Size: 593
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 66852
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European
8p23.1
Description:
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
Diagnosis:
Developmental delay with or without congenital malformations
Girirajan S , et al. (2012)Cohort Size: 32587
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 3800000
Deletion: 18
Duplication: 24
Total CNV: 42
Discovery Method:
aCGH
Validation Method:
FISH, aCGH, or confirmation by inheritance
Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -
8p23.1
Description:
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
Diagnosis:
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Gazzellone MJ , et al. (2014)Cohort Size: 104
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 25091
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix CytoScan HD
Software: -
Algorithm: ChAS, iPattern, Nexus, Partek
Geographical Ancestry: Han Chinese
8p23.1
Description:
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
Diagnosis:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Girirajan S , et al. (2013)Cohort Size: 2588
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 13145
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
aCGH (NimbleGen 135K array)
Platform: Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
Software: Agilent Genomic Workbench
Algorithm: ADM-2
Geographical Ancestry: NA
8p23.1
Description:
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
Diagnosis:
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
Kaminsky EB , et al. (2011)Cohort Size: 15749
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 5336926
Deletion: 60
Duplication: 46
Total CNV: 106
Discovery Method:
aCGH
Validation Method:
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
Platform: Agilent 44K, Agilent 105K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: NA
8p23.1
Description:
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
Diagnosis:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
Kanduri C , et al. (2015)Cohort Size: 80
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 33782
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Human OmniExpress-12v1.0 BeadChip
Software: Illumina BeadStudio
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: Finnish
8p23.1
Description:
Probands from the Simons Simplex Collection
Diagnosis:
Diagnosis of ASD
Krumm N , et al. (2015)Cohort Size: 2377
Age Min: -
Age Max: -
Average: -
Male: 71
Female: 29
Unknown: -
CNV Size: 125703
Deletion: 1
Duplication: 4
Total CNV: 5
Discovery Method:
WES
Validation Method:
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A
8p23.1
Description:
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
Diagnosis:
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
Leblond CS , et al. (2012)Cohort Size: 2
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 6783
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina 1M SNP array
Software: -
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: 1 Canadian, 1 French
8p23.1
Description:
Individuals predominantly recruited from the middle of Honshu Island (Japan)
Diagnosis:
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Kushima I , et al. (2018)Cohort Size: 1108
Age Min: 252
Age Max: 660
Average: 456
Male: 50
Female: 50
Unknown: -
CNV Size: 119372
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
N/A
Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese
8p23.1
Description:
Individuals predominantly recruited from the middle of Honshu Island (Japan)
Diagnosis:
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Kushima I , et al. (2018)Cohort Size: 2458
Age Min: 252
Age Max: 660
Average: 456
Male: 50
Female: 50
Unknown: -
CNV Size: 84207
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
N/A
Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese
8p23.1
Description:
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
Diagnosis:
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 1205
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 119373
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
8p23.1
Description:
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
Diagnosis:
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 1818
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 92908
Deletion: 4
Duplication: 1
Total CNV: 5
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
8p23.1
Description:
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
Diagnosis:
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 3014
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 113678
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
8p23.1
Description:
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
Diagnosis:
ASD
Levy D , et al. (2011)Cohort Size: 858
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: 284229
Deletion: 0
Duplication: 3
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
-
Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -
8p23.1
Description:
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).
Diagnosis:
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,
Lesca G , et al. (2012)Cohort Size: 61
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1189000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
qPCR
Platform: Agilent SurePrint G3 Human CGH Microarray 4x180K
Software: Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
Algorithm: ADM-2
Geographical Ancestry: France
8p23.1
Description:
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
Diagnosis:
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
Lionel AC , et al. (2013)Cohort Size: 5384
Age Min: 180
Age Max: 288
Average: 234
Male: 100
Female: -
Unknown: -
CNV Size: 474946
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH, array SNP
Validation Method:
None
Platform: Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Software: Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
Algorithm: -
Geographical Ancestry: NA
8p23.1
Description:
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
Diagnosis:
Diagnosis according to ADOS and ADI-R
Leppa VM , et al. (2016)Cohort Size: 1764
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: 1200000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
Software: GenomeStudio, CNVision
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: N/A
8p23.1
Description:
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
Diagnosis:
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
Morrow EM , et al. (2008)Cohort Size: 94
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 152000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
-
Platform: Affymetrix 500K
Software: dChip
Algorithm: BRLMM
Geographical Ancestry: Arabic Middle East, Turkey, and Pakistan
8p23.1
Description:
Cohort of 54 families with at least one autistic patient
Diagnosis:
ASD
Ozgen HM , et al. (2009)Cohort Size: 54
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 66000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: HumanHap300
Software: -
Algorithm: -
Geographical Ancestry: -
8p23.1
Description:
Youth with ASD (as part of mother-father-child trios)
Diagnosis:
ASD
Nord AS , et al. (2011)Cohort Size: 41
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 112197
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: NimbleGen HD2
Software: -
Algorithm: Sliding-window algorithm, ~10 kb minumum size threshold
Geographical Ancestry: 29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
8p23.1
Description:
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
Diagnosis:
Cases assessed with ADI-R
Nava C , et al. (2013)Cohort Size: 194
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 93000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
Software: GenomeStudio v.2011.1, CNVPartition v.3.1.6
Algorithm: -
Geographical Ancestry: France
8p23.1
Description:
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
Diagnosis:
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
Pinto D , et al. (2010)Cohort Size: 996
Age Min: -
Age Max: -
Average: -
Male: 67
Female: 33
Unknown: -
CNV Size: 86511
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
Platform: Illumina Infinium 1M SNP microarray
Software: -
Algorithm: QuantiSNP, iPattern
Geographical Ancestry: European
8p23.1
Description:
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
Diagnosis:
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Picinelli C , et al. (2016)Cohort Size: 6
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 514092
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent SurePrint G3 4x180K
Software: Agilent Cytogenomic Software v2.7
Algorithm: ADM-2
Geographical Ancestry: Italy
8p23.1
Description:
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
Diagnosis:
Cases diagnosed with ASD
Poultney CS , et al. (2013)Cohort Size: 299
Age Min: -
Age Max: -
Average: -
Male: 78
Female: 22
Unknown: -
CNV Size: 679731
Deletion: 1
Duplication: 2
Total CNV: 3
Discovery Method:
WES
Validation Method:
None
Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European
8p23.1
Description:
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).
Diagnosis:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
Prasad A , et al. (2013)Cohort Size: 676
Age Min: -
Age Max: -
Average: -
Male: 71
Female: 29
Unknown: -
CNV Size: 324879
Deletion: 5
Duplication: 2
Total CNV: 7
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada
8p23.1
Description:
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
Diagnosis:
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
Sajan SA , et al. (2013)Cohort Size: 487
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 146973
Deletion: 1
Duplication: 5
Total CNV: 6
Discovery Method:
Solid phase hybridization
Validation Method:
None (not tested or failure to confirm by qPCR)
Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian
8p23.1
Description:
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
Diagnosis:
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)
Sanders SJ , et al. (2011)Cohort Size: 1124
Age Min: -
Age Max: -
Average: -
Male: 72
Female: 28
Unknown: -
CNV Size: 106253
Deletion: 41
Duplication: 3
Total CNV: 44
Discovery Method:
Solid phase hybridization
Validation Method:
-
Platform: Illumina 1M v1, Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
8p23.1
Description:
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
Diagnosis:
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
Shin S , et al. (2015)Cohort Size: 96
Age Min: 72
Age Max: 72
Average: 72
Male: -
Female: 100
Unknown: -
CNV Size: 3775000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix CytoScan 750K
Software: Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
Algorithm: -
Geographical Ancestry: Korean
8p23.1
Description:
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
Diagnosis:
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Sansovi I , et al. (2017)Cohort Size: 337
Age Min: 12
Age Max: 60
Average: 36
Male: 50
Female: 50
Unknown: -
CNV Size: 5235000
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent SurePrint G3 Unrestricted CGH ISCA v2
Software: Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
Algorithm: -
Geographical Ancestry: Croatia
8p23.1
Description:
ASD patients from 173 families with at least two affected individuals from AGP
Diagnosis:
Patients diagnosed with ASD based on ADI-R and ADOS
Autism Genome Project Consortium , et al. (2007)Cohort Size: 196
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 3261230
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
Platform: Affymetrix 10K (v2)
Software: dChip
Algorithm: HMM
Geographical Ancestry: -
8p23.1
Description:
ASD probands selected from initial cohort of 210 preschoolers based on clinical characteristic scores. 21 probands from multiplex families, 29 probands from simplex families. Social Responsiveness Scale (SRS) administered to probands, parents, and available siblings.
Diagnosis:
ASD (DSM-IV-TR, ADOS-G, and ADI-R)
van Daalen E , et al. (2011)Cohort Size: 50
Age Min: 103
Age Max: 103
Average: 103
Male: 100
Female: -
Unknown: -
CNV Size: 66242
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
FISH
Platform: Illumina HumanHap300 BeadChip
Software: Beadstudio V2.3.41
Algorithm: -
Geographical Ancestry: Netherlands
8p23.1
Description:
Replication cohort consisting of patients referred to the Mayo Clinic
Diagnosis:
Autism or pervasive developmental disorder (PDD)
Vaags AK , et al. (2012)Cohort Size: 1796
Age Min: 42
Age Max: 42
Average: 42
Male: 100
Female: -
Unknown: -
CNV Size: 740169
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 44K & 244K
Software: -
Algorithm: -
Geographical Ancestry: NA
8p23.1
Description:
Patients referred for aCGH analysis from 2008-present
Diagnosis:
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)
Tzetis M , et al. (2012)Cohort Size: 334
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 3750000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 244K, Agilent 4x180K
Software: Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
Algorithm: ADM-1
Geographical Ancestry: Greece
8p23.1
Description:
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.
Diagnosis:
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).
Yin CL , et al. (2016)Cohort Size: 335
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 52814
Deletion: 0
Duplication: 9
Total CNV: 9
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese
8p23.1
Description:
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).
Diagnosis:
Cases diagnosed with ASD using DSM-IV.
Yuan B et al. (2023)Cohort Size: 369
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 516384
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
WES
Validation Method:
None
Platform: Illumina HiSeq
Software: GATK v.4.2.0.0.
Algorithm: NA
Geographical Ancestry: China
Show all Case Details
Show all Cohort Details
celestino-soper_11_ASD_discovery_cases-11178
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6979765
CNV End: 7055419
CNV Size: 75655
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DEFT1P, DEFA1B, DEFT1P2, DEFA3, DEFA7P, DEFA5, DEFA1, DEFA11P
celestino-soper_11_ASD_discovery_cases-11581
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 7427971
CNV End: 7896990
CNV Size: 469020
Validation Description: Solid phase hybridization (Illumina 1M SNP)
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
chung_11_ASD_discovery_cases-proband
Clinical Profile:
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
Cognitive Profile:
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
Chung BH , et al. (2011)Primary Diagnosis: ASD
Age: 12
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 12130205
CNV End: 12143602
CNV Size: 13398
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: USP17L7, USP17L2, FAM66D
chung_11_ASD_discovery_cases-proband
Clinical Profile:
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
Cognitive Profile:
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
Chung BH , et al. (2011)Primary Diagnosis: ASD
Age: 12
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 12176786
CNV End: 12389965
CNV Size: 213180
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, FAM66D, ENPP7P12, FAM66A, FAM86B1
coe_14_ASD/DD/ID_discovery_cases-case705
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
coe_14_ASD/DD/ID_discovery_cases-case706
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
coe_14_ASD/DD/ID_discovery_cases-case707
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
coe_14_ASD/DD/ID_discovery_cases-case708
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
coe_14_ASD/DD/ID_discovery_cases-case709
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
coe_14_ASD/DD/ID_discovery_cases-case710
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
coe_14_ASD/DD/ID_discovery_cases-case711
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
coe_14_ASD/DD/ID_discovery_cases-case712
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
coe_14_ASD/DD/ID_discovery_cases-case713
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
coe_14_ASD/DD/ID_discovery_cases-case714
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
coe_14_ASD/DD/ID_discovery_cases-case715
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
coe_14_ASD/DD/ID_discovery_cases-case716
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
coe_14_ASD/DD/ID_discovery_cases-case717
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
coe_14_ASD/DD/ID_discovery_cases-case718
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
davis_12_ASD_discovery_cases-case1
Clinical Profile:
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Cognitive Profile:
Vineland adaptive behavior scale, 98 (45th %ile).
Davis LK , et al. (2012)Primary Diagnosis: Autism
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 12355381
CNV End: 12403541
CNV Size: 48161
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ZNF705CP, DEFB109A, FAM66A
davis_12_ASD_discovery_cases-case1
Clinical Profile:
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Cognitive Profile:
Vineland adaptive behavior scale, 98 (45th %ile).
Davis LK , et al. (2012)Primary Diagnosis: Autism
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 7385193
CNV End: 8034175
CNV Size: 648983
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, ZNF705G, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, DEFB104B, SPAG11A, FAM66E, DEFB109C
egger_14_ASD_discovery_cases-caseA41
Clinical Profile:
CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Cognitive Profile:
-
Egger G , et al. (2014)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10053425
CNV End: 10085414
CNV Size: 31990
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case13045_543
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8236884
CNV End: 8288087
CNV Size: 51204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case13072_853
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6583857
CNV End: 6707088
CNV Size: 123232
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8055, MCPH1, MCPH1-AS1
engchuan_15_ASD_discovery_cases-case14000_30
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8235718
CNV End: 8288087
CNV Size: 52370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case14063_1070
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8235718
CNV End: 8288087
CNV Size: 52370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case14113_2030
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8236884
CNV End: 8292517
CNV Size: 55634
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case14281_4040
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8235718
CNV End: 8288087
CNV Size: 52370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case14319_3030
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8236884
CNV End: 8288087
CNV Size: 51204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case14399_5080
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8235718
CNV End: 8288087
CNV Size: 52370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case16043_1571070001
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10732403
CNV End: 10840708
CNV Size: 108306
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1322, PINX1
engchuan_15_ASD_discovery_cases-case16065_1571161001
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 9322624
CNV End: 9560657
CNV Size: 238034
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-526P, TNKS
engchuan_15_ASD_discovery_cases-case18121_302
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 11877192
CNV End: 12090164
CNV Size: 212973
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253
engchuan_15_ASD_discovery_cases-case20069_1328001
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6364154
CNV End: 6439029
CNV Size: 74876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case20079_1352001
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8235718
CNV End: 8275232
CNV Size: 39515
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case2158_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 11776455
CNV End: 11814519
CNV Size: 38065
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SUB1P1, NEIL2, FDFT1
engchuan_15_ASD_discovery_cases-case2275_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8461340
CNV End: 8591178
CNV Size: 129839
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case2300_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 12033820
CNV End: 12390135
CNV Size: 356316
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, FAM86B1
engchuan_15_ASD_discovery_cases-case3222_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8229779
CNV End: 8288087
CNV Size: 58309
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case3508_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8274909
CNV End: 8311465
CNV Size: 36557
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case3571_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6365604
CNV End: 6416121
CNV Size: 50518
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case4322_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8235718
CNV End: 8287918
CNV Size: 52201
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case5007_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 7117168
CNV End: 7318424
CNV Size: 201257
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPS3AP30, SNRPCP6, SNRPCP15, RPS3AP33, OR7E125P, FAM90A3P, FAM90A13P, FAM90A5P, FAM90A20P, DEFB109B, FAM90A15P, FAM90A4P, FAM66B
engchuan_15_ASD_discovery_cases-case5057_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8235718
CNV End: 8288087
CNV Size: 52370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case5268_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 12033820
CNV End: 12676853
CNV Size: 643034
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, DEFB109A, FAM90A25P, ALG1L12P, RPS3AP34, RPS3AP35, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, FAM86B2, FAM86B1, ENPP7P6
engchuan_15_ASD_discovery_cases-case5354_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10759070
CNV End: 10834648
CNV Size: 75579
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1322, PINX1
engchuan_15_ASD_discovery_cases-case5440_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10754198
CNV End: 10840708
CNV Size: 86511
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1322, PINX1
engchuan_15_ASD_discovery_cases-case5442_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8229779
CNV End: 8305721
CNV Size: 75943
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case6052_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10117702
CNV End: 10149717
CNV Size: 32016
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case6120_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 11786294
CNV End: 12378328
CNV Size: 592035
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, NEIL2, CTSB, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, FDFT1, FAM86B1
engchuan_15_ASD_discovery_cases-case6219_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8240557
CNV End: 8288087
CNV Size: 47531
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case6236_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8240557
CNV End: 8288087
CNV Size: 47531
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case6242_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 12033820
CNV End: 12390135
CNV Size: 356316
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, FAM86B1
engchuan_15_ASD_discovery_cases-case6290_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6704571
CNV End: 6829269
CNV Size: 124699
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR4659A, MIR4659B, AGPAT5, MCPH1-AS1, XKR5
engchuan_15_ASD_discovery_cases-case8422_202
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8240557
CNV End: 8288087
CNV Size: 47531
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case8439_202
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8461340
CNV End: 8593251
CNV Size: 131912
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case8553_201
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8235718
CNV End: 8288087
CNV Size: 52370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_cases-case8576_201
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10593501
CNV End: 10642392
CNV Size: 48892
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case8627_201
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10221343
CNV End: 10705604
CNV Size: 484262
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, PRSS55, C8orf74, MSRA, RP1L1, PRSS51
engchuan_15_ASD_discovery_cases-case8663_201
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6787873
CNV End: 7178957
CNV Size: 391085
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB1, RPL23AP96, DEFA6, DEFA4, DEFA8P, DEFA9P, DEFA10P, DEFT1P, DEFA1B, DEFT1P2, DEFA3, DEFA7P, DEFA5, RPS3AP30, SNRPCP6, SNRPCP15, GS1-24F4.2, DEFA1, DEFA11P, XKR5
engchuan_15_ASD_discovery_cases-case8663_201
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 11872585
CNV End: 12355381
CNV Size: 482797
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM86B1
engchuan_15_ASD_discovery_cases-case9757_201
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8793247
CNV End: 8838939
CNV Size: 45693
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
fry_16_DD/ID/EP/ASD_discovery_cases-caseR605
Clinical Profile:
Clinical features: intellectual disability, seizures. Age of seizure onset: <16 years. Epilepsy syndrome: unknown. Seizure types: unknown.
Cognitive Profile:
Intellectual disability
Fry AE , et al. (2016)Primary Diagnosis: Intellectual disability and epilepsy
Age: 41 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 11856343
CNV End: 12347170
CNV Size: 490828
Validation Description: Solid phase hybridization (Illumina)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, CTSB, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM86B1
gai_11_ASD_discovery_cases-AU1156303
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 9818672
CNV End: 11114045
CNV Size: 1295374
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: MSRA, UNQ9391, RP1L1, C8orf74, SOX7, PINX1, XKR6
gai_11_ASD_replication_cases-AU074503
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 11239564
CNV End: 11306415
CNV Size: 66852
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: TDH, C8orf12
gazzellone_14_ASD_discovery_cases-case527-3
Clinical Profile:
ASD; no other clinical information provided
Cognitive Profile:
N/A
Gazzellone MJ , et al. (2014)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8683634
CNV End: 8708725
CNV Size: 25092
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case2160
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2161
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2162
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2163
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2164
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2165
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2166
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2167
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2168
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2169
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2170
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2171
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2172
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2173
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2174
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2175
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2176
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2177
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2178
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2179
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2180
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2181
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2182
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2183
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2184
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2185
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2186
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2187
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2188
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2189
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2190
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2191
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2192
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2193
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2194
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2195
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2196
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2197
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2198
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case2199
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case31441
Primary Diagnosis: Cardiac defects
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_12_ASD/DD/ID_discovery_cases-case68390
Clinical Profile:
ADHD, seizures, mild dysmorphic features
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: ADHD and epilepsy
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8235068
CNV End: 12035082
CNV Size: 3800015
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
girirajan_13a_ASD_discovery_cases-11818.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6429753
CNV End: 6432825
CNV Size: 3073
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-13930.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6409379
CNV End: 6422524
CNV Size: 13146
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000005
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 12182421
CNV End: 12610034
CNV Size: 427614
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, DEFB109A, FAM90A25P, ALG1L12P, RPS3AP34, ENPP7P12, FAM66A, FAM86B2, FAM86B1, ENPP7P6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000021
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000110
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000111
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000130
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000199
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000337
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7022782
CNV End: 8273167
CNV Size: 1250386
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFA7P, DEFA5, RPS3AP30, SNRPCP6, SNRPCP15, RPS3AP33, OR7E125P, FAM90A3P, FAM90A13P, FAM90A5P, FAM90A20P, DEFB109B, USP17L1, USP17L4, DEFB108C, DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, DEFA11P, FAM90A15P, FAM90A4P, ZNF705G, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, FAM86B3P, ALG1L13P, DEFB104B, SPAG11A, FAM66E, DEFB109C, FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000357
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000359
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8222339
CNV End: 12383643
CNV Size: 4161305
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, FAM85B, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, FAM86B1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000381
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000452
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000482
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000544
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000560
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000565
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000601
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000606
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8273167
CNV Size: 861871
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, FAM86B3P, ALG1L13P, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000657
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000705
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000740
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7195664
CNV End: 8222398
CNV Size: 1026735
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OR7E125P, FAM90A3P, FAM90A13P, FAM90A5P, FAM90A20P, DEFB109B, USP17L1, USP17L4, DEFB108C, DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, FAM90A15P, FAM90A4P, ZNF705G, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C, FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000742
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000752
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7195664
CNV End: 7895064
CNV Size: 699401
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OR7E125P, FAM90A3P, FAM90A13P, FAM90A5P, FAM90A20P, DEFB109B, USP17L1, USP17L4, DEFB108C, DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, FAM90A15P, FAM90A4P, ZNF705G, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A, FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000767
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000780
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000799
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000814
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000820
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 11112581
CNV End: 11948451
CNV Size: 835871
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, XKR6, FAM167A-AS1, FDFT1, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000851
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000856
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000863
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000882
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8273167
CNV Size: 861871
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, FAM86B3P, ALG1L13P, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000890
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 12182421
CNV End: 12610034
CNV Size: 427614
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, DEFB109A, FAM90A25P, ALG1L12P, RPS3AP34, ENPP7P12, FAM66A, FAM86B2, FAM86B1, ENPP7P6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000893
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7195664
CNV End: 8222398
CNV Size: 1026735
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OR7E125P, FAM90A3P, FAM90A13P, FAM90A5P, FAM90A20P, DEFB109B, USP17L1, USP17L4, DEFB108C, DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, FAM90A15P, FAM90A4P, ZNF705G, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C, FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000894
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000898
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000900
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000903
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7514108
CNV End: 8222398
CNV Size: 708291
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000943
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7195664
CNV End: 8222398
CNV Size: 1026735
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OR7E125P, FAM90A3P, FAM90A13P, FAM90A5P, FAM90A20P, DEFB109B, USP17L1, USP17L4, DEFB108C, DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, FAM90A15P, FAM90A4P, ZNF705G, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C, FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000948
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000985
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000987
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000990
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000995
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001012
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001019
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001026
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001033
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001034
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001038
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001046
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001049
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001056
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001057
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001060
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001070
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001090
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001093
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001104
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001115
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001121
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001123
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001124
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001129
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001131
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 12182465
CNV Size: 4771169
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ZNF705D, FAM66D, FAM90A2P, DEFB104B, SPAG11A, FAM66E, DEFB109C, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, FAM86B1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001139
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7195664
CNV End: 7895064
CNV Size: 699401
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OR7E125P, FAM90A3P, FAM90A13P, FAM90A5P, FAM90A20P, DEFB109B, USP17L1, USP17L4, DEFB108C, DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, FAM90A15P, FAM90A4P, ZNF705G, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A, FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001141
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001156
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001157
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001173
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001175
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001178
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 9924272
CNV End: 11573632
CNV Size: 1649361
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001182
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001184
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7195664
CNV End: 8222398
CNV Size: 1026735
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OR7E125P, FAM90A3P, FAM90A13P, FAM90A5P, FAM90A20P, DEFB109B, USP17L1, USP17L4, DEFB108C, DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, FAM90A15P, FAM90A4P, ZNF705G, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C, FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001192
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001194
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001199
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001209
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001215
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8273108
CNV End: 11948451
CNV Size: 3675344
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001222
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001228
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001233
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001244
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7514108
CNV End: 8222398
CNV Size: 708291
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001250
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001256
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001263
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001286
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 8222398
CNV Size: 811102
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, DEFB104B, SPAG11A, FAM66E, DEFB109C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001787
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7234837
CNV End: 12514815
CNV Size: 5279979
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OR7E125P, FAM90A3P, FAM90A13P, FAM90A5P, FAM90A20P, DEFB109B, USP17L1, USP17L4, DEFB108C, DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, DEFB109A, FAM90A25P, ALG1L12P, FAM90A15P, FAM90A4P, ZNF705G, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, FAM86B2, DEFB104B, SPAG11A, FAM66E, DEFB109C, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, FAM86B1, ENPP7P6, FAM66B, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001965
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8336212
CNV End: 11984392
CNV Size: 3648181
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002118
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8336212
CNV End: 11984392
CNV Size: 3648181
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002258
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 10094463
CNV End: 11518412
CNV Size: 1423950
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002333
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8336212
CNV End: 12021806
CNV Size: 3685595
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002599
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8222339
CNV End: 12182465
CNV Size: 3960127
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, FAM85B, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ZNF705D, FAM66D, FAM90A2P, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, FAM86B1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002609
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 11961807
CNV Size: 4550511
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, DEFB104B, SPAG11A, FAM66E, DEFB109C, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003959
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8336212
CNV End: 11984392
CNV Size: 3648181
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004062
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8272908
CNV End: 12182621
CNV Size: 3909714
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ZNF705D, FAM66D, FAM90A2P, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, FAM86B1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004063
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8222139
CNV End: 12383784
CNV Size: 4161646
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, FAM85B, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, FAM86B1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004366
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 10056979
CNV End: 11573632
CNV Size: 1516654
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004544
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411097
CNV End: 12610175
CNV Size: 5199079
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, DEFB109A, FAM90A25P, ALG1L12P, RPS3AP34, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, FAM86B2, DEFB104B, SPAG11A, FAM66E, DEFB109C, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, FAM86B1, ENPP7P6, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004570
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 6391161
CNV End: 6451673
CNV Size: 60513
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004735
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8336212
CNV End: 11984392
CNV Size: 3648181
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004793
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7195664
CNV End: 12383643
CNV Size: 5187980
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OR7E125P, FAM90A3P, FAM90A13P, FAM90A5P, FAM90A20P, DEFB109B, USP17L1, USP17L4, DEFB108C, DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, FAM90A15P, FAM90A4P, ZNF705G, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, DEFB104B, SPAG11A, FAM66E, DEFB109C, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, FAM86B1, FAM66B, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004798
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 12546553
CNV Size: 5135257
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, DEFB109A, FAM90A25P, ALG1L12P, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, FAM86B2, DEFB104B, SPAG11A, FAM66E, DEFB109C, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, FAM86B1, ENPP7P6, PRSS51, BLK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004971
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 9239988
CNV End: 10057038
CNV Size: 817051
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, TNKS, MSRA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005070
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7411297
CNV End: 7895064
CNV Size: 483768
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005083
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8336212
CNV End: 9953226
CNV Size: 1617015
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, PRAG1, MFHAS1, RPL10P19, PPP1R3B, ERI1, TNKS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005083
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 9970431
CNV End: 11984392
CNV Size: 2013962
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
kanduri_15_ASD_discovery_cases-case3076
Clinical Profile:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8111659
CNV End: 8145440
CNV Size: 33782
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: Intergenic CNV: nearest genes, FAM86B3P(dist=9272),SGK223(dist=29818)
krumm_15_ASD_discovery_cases-case12861.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6409278
CNV End: 6445555
CNV Size: 36278
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case12921.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6832716
CNV End: 6924927
CNV Size: 92212
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DEFB1, RPL23AP96, DEFA6, GS1-24F4.2, XKR5
krumm_15_ASD_discovery_cases-case13538.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 7055430
CNV End: 7056699
CNV Size: 1270
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case13600.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6811197
CNV End: 6936899
CNV Size: 125703
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DEFB1, RPL23AP96, DEFA6, DEFA4, GS1-24F4.2, XKR5
krumm_15_ASD_discovery_cases-case13802.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6438952
CNV End: 6445555
CNV Size: 6604
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
leblond_12_ASD_replication_cases-Pintocase6319_3
Clinical Profile:
ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
Cognitive Profile:
Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
Leblond CS , et al. (2012)Primary Diagnosis: PDD-NOS
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
leppa_16_ASD_discovery_cases-AU1156303
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 9931490
CNV End: 11175491
CNV Size: 1244002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, PRSS55, C8orf74, MSRA, RP1L1, PINX1, XKR6, PRSS51
lesca_12_EP_discovery_cases-case4-914
Clinical Profile:
Phenotype: s-CSWSS . Seizure Characteristics: GTCS, atonic. Autistic features: No. ADHD features: No. Other features: Microcephaly.
Cognitive Profile:
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 48, performance IQ 48 (at 6.5 years of age).
Lesca G , et al. (2012)Primary Diagnosis: Epilepsy
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 9740716
CNV End: 10930282
CNV Size: 1189567
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, PRSS55, C8orf74, TNKS, MSRA, RP1L1, PINX1, XKR6, PRSS51
levy_11_ASD_discovery_cases-11157.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6612375
CNV End: 6896600
CNV Size: 284226
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR8055, MIR4659A, MIR4659B, DEFB1, AGPAT5, GS1-24F4.2, MCPH1, MCPH1-AS1, XKR5
levy_11_ASD_discovery_cases-11447.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6772869
CNV End: 6966547
CNV Size: 193679
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DEFB1, RPL23AP96, DEFA6, DEFA4, DEFA8P, DEFA9P, GS1-24F4.2, XKR5
levy_11_ASD_discovery_cases-11447.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6971306
CNV End: 7202724
CNV Size: 231419
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DEFT1P, DEFA1B, DEFT1P2, DEFA3, DEFA7P, DEFA5, RPS3AP30, SNRPCP6, SNRPCP15, RPS3AP33, DEFA1, DEFA11P
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
Clinical Profile:
Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.
Cognitive Profile:
Intellectual disability
Lionel AC , et al. (2013)Primary Diagnosis: ASD and ID
Age: 15 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 7381969
CNV End: 7806914
CNV Size: 424946
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, ZNF705G, SPAG11B, DEFB107B, DEFB104B
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Clinical Profile:
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Cognitive Profile:
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
Lionel AC , et al. (2013)Primary Diagnosis: Schizophrenia
Age: 24 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 7914040
CNV End: 8008640
CNV Size: 94601
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DEFB108A, USP17L8, USP17L3, ZNF705B, FAM66E, DEFB109C
morrow_08_ASD_discovery_cases-case2207
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 6814000
CNV End: 6966000
CNV Size: 152000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: Unknown
Gene Content: DEFA1, DEFA3, DEFA5
nava_13_ASD_discovery_cases-Fam814Proband10026
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 7023403
CNV End: 7116528
CNV Size: 93126
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DEFA7P, DEFA5, DEFA11P
nord_11_ASD_discovery_cases-315-1
Primary Diagnosis: ASD
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 9343345
CNV End: 9455541
CNV Size: 112197
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: Unknown
Gene Content: -
ozgen_09_ASD_replication_cases-patient1
Clinical Profile:
Dysmorphism, no motor delays, language delay, asymmetry of the ventricles
Cognitive Profile:
Non-verbal IQ 63
Ozgen HM , et al. (2009)Primary Diagnosis: ASD
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 6390723
CNV End: 6456965
CNV Size: 66243
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
Clinical Profile:
Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
Cognitive Profile:
TIQ score of 109
Picinelli C , et al. (2016)Primary Diagnosis: ASD and ADHD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: 7381969
CNV End: 7896061
CNV Size: 514093
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, ZNF705G, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
Clinical Profile:
Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.
Cognitive Profile:
Developmental delay (TIQ score of 54)
Picinelli C , et al. (2016)Primary Diagnosis: Developmental delay
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: 7381969
CNV End: 7896061
CNV Size: 514093
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, ZNF705G, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
pinto_10_ASD_discovery_cases-case3307_003
Clinical Profile:
Language delay, head circumference >P98, no dysmorphic features, no seizures
Cognitive Profile:
Average IQ
Pinto D , et al. (2010)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 6316818
CNV End: 6341678
CNV Size: 24861
Validation Description: LR-PCR across deletion
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: -
pinto_10_ASD_discovery_cases-case5354_3
Clinical Profile:
Below average language (<1%ile), no epilepsy, no dysmorphic features
Cognitive Profile:
Below average IQ (1%ile)
Pinto D , et al. (2010)Primary Diagnosis: Autism
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 10759070
CNV End: 10834648
CNV Size: 75579
Validation Description: qPCR-Paternal
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR1322, PINX1
pinto_10_ASD_discovery_cases-case5440_3
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 10754198
CNV End: 10840708
CNV Size: 86511
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR1322, PINX1
poultney_13_ASD_discovery_cases-case01HI2291A
Clinical Profile:
ASD case from AGRE (AGRE ID AU038005; NDAR ID NDAR_INVGY788ULC)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 7486332
CNV End: 7863537
CNV Size: 377206
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB107B, DEFB107A, SPAG11A
poultney_13_ASD_discovery_cases-case05HI4004A
Clinical Profile:
ASD case from AGRE (AGRE ID AU1156303; NDAR ID NDAR_INVLW864ULL)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 10245102
CNV End: 10924832
CNV Size: 679731
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, PRSS55, C8orf74, MSRA, RP1L1, PINX1, XKR6, PRSS51
poultney_13_ASD_discovery_cases-case99HI1083A
Clinical Profile:
ASD case from AGRE (AGRE ID AU060303; NDAR ID NDAR_INVFG744LPG)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 6409277
CNV End: 7056699
CNV Size: 647423
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: MIR8055, MIR4659A, MIR4659B, DEFB1, RPL23AP96, DEFA6, DEFA4, DEFA8P, DEFA9P, DEFA10P, DEFT1P, DEFA1B, DEFT1P2, DEFA3, DEFA7P, DEFA5, AGPAT5, GS1-24F4.2, DEFA1, DEFA11P, MCPH1, ANGPT2, MCPH1-AS1, XKR5
prasad_12_ASD_discovery_cases-case124498
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 6489669
CNV End: 6814547
CNV Size: 324879
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: XKR5, DEFB1, DEFA10P, DEFA6, AGPAT5, DEFA4
prasad_12_ASD_discovery_cases-case147230
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 10945397
CNV End: 10951035
CNV Size: 5639
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
prasad_12_ASD_discovery_cases-case47932
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 11766847
CNV End: 11792014
CNV Size: 25168
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
prasad_12_ASD_discovery_cases-case71845
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 10649392
CNV End: 10741616
CNV Size: 92225
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: PINX1, MIR1322
prasad_12_ASD_discovery_cases-case74431
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 6718744
CNV End: 6926861
CNV Size: 208118
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: DEFB1, DEFA10P, DEFT1P2, DEFA6, DEFA5, DEFA4, DEFA3, DEFA1, DEFA1B, DEFT1P
prasad_12_ASD_discovery_cases-case93736
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 6274682
CNV End: 6324437
CNV Size: 49756
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
prasad_12_ASD_discovery_cases-case94073
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 10658222
CNV End: 10732698
CNV Size: 74477
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: PINX1, MIR1322
sajan_13_ACC/CBLH/PMG_discovery_cases-case1300-0
Clinical Profile:
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Cognitive Profile:
Developmental delay: yes. Intellectual disability: unknown.
Sajan SA , et al. (2013)Primary Diagnosis: ACC
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 10798927
CNV End: 10858518
CNV Size: 59592
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1322, PINX1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1630-0
Clinical Profile:
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.
Cognitive Profile:
Developmental delay: unknown. Intellectual disability: unknown.
Sajan SA , et al. (2013)Primary Diagnosis: ACC
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7788513
CNV End: 7935485
CNV Size: 146973
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, DEFB107A, ZNF705B, SPAG11A
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-050
Primary Diagnosis: PMG
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7854519
CNV End: 7935485
CNV Size: 80967
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB103A, HSPD1P2, DEFB4A, DEFB108A, ZNF705B, SPAG11A
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-088
Clinical Profile:
Diagnosis of cerebellar hypoplasia (CBLH).
Cognitive Profile:
-
Sajan SA , et al. (2013)Primary Diagnosis: CBLH
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7854519
CNV End: 7935485
CNV Size: 80967
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB103A, HSPD1P2, DEFB4A, DEFB108A, ZNF705B, SPAG11A
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-288
Clinical Profile:
Diagnosis of cerebellar hypoplasia (CBLH).
Cognitive Profile:
-
Sajan SA , et al. (2013)Primary Diagnosis: CBLH
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7974129
CNV End: 8034175
CNV Size: 60047
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: USP17L3, FAM90A11P, FAM90A24P, FAM90A12P, FAM66E, DEFB109C
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-128
Clinical Profile:
Diagnosis of agenesis of the corpus callosum (ACC). ASD: N/A. Seizures: yes.
Cognitive Profile:
Developmental delay: yes. Intellectual disability: N/A.
Sajan SA , et al. (2013)Primary Diagnosis: ACC
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8240557
CNV End: 8287918
CNV Size: 47362
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
sanders_11_ASD_discovery_cases-11030.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 8.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11113.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 87; non-verbal IQ, 100; verbal IQ 89
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 11776455
CNV End: 11814519
CNV Size: 38065
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: SUB1P1, NEIL2, FDFT1
sanders_11_ASD_discovery_cases-11128.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11132.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11135.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 11913580
CNV End: 11930179
CNV Size: 16600
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: OR7E158P, OR7E161P
sanders_11_ASD_discovery_cases-11168.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11188.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ 99
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11343.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 8.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11399.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 100
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 11.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11456.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 11921294
CNV End: 11930179
CNV Size: 8886
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11472.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.7
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 8909371
CNV End: 8928240
CNV Size: 18870
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11504.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 112; non-verbal IQ, 108; verbal IQ, 119
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11519.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 50; non-verbal IQ, 84; verbal IQ, 23
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9193910
CNV End: 9204980
CNV Size: 11071
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11543.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 16.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11556.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 8725599
CNV End: 8728506
CNV Size: 2908
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11587.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 12.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11598.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 11130043
CNV End: 11132011
CNV Size: 1969
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11609.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11666.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 49; non-verbal IQ, 51; verbal IQ, 51
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 8725599
CNV End: 8730079
CNV Size: 4481
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11693.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 76; verbal IQ, 88
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 8725599
CNV End: 8730079
CNV Size: 4481
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11818.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 12.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 6429649
CNV End: 6432721
CNV Size: 3073
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11845.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9591622
CNV End: 9596465
CNV Size: 4844
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11982.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12011.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12360.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 8725599
CNV End: 8730079
CNV Size: 4481
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12362.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 121
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12382.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 91; non-verbal IQ, 94; verbal IQ, 88
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12429.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 11915278
CNV End: 11930179
CNV Size: 14902
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: OR7E158P, OR7E161P
sanders_11_ASD_discovery_cases-12465.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 105
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12637.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 7.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12646.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 115; non-verbal IQ, 126; verbal IQ, 103
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 17.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9223788
CNV End: 9278055
CNV Size: 54268
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12651.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12676.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 110; non-verbal IQ, 107; verbal IQ, 114
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 11.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12715.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 109
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12744.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 49
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12758.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 70
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12805.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12878.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 8725599
CNV End: 8730079
CNV Size: 4481
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12879.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 34; non-verbal IQ, 35; verbal IQ, 33
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 8725599
CNV End: 8730079
CNV Size: 4481
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12921.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 6826615
CNV End: 6897026
CNV Size: 70412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: DEFB1, GS1-24F4.2, XKR5
sanders_11_ASD_discovery_cases-12933.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 42; non-verbal IQ, 41; verbal IQ, 44
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13036.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13096.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 107; non-verbal IQ, 111; verbal IQ, 99
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 9388220
CNV End: 9494473
CNV Size: 106254
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13168.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 7.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sansovic_17_DD/ID/ASD_discovery_cases-case22
Clinical Profile:
Developmental delay/intellectual disability, Congenital anomalies
Cognitive Profile:
-
Sansovi I , et al. (2017)Primary Diagnosis: Developmental delay/intellectual disability
Age: 1 yr.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 11526880
CNV End: 11728853
CNV Size: 201974
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00208, GATA4, BLK
sansovic_17_DD/ID/ASD_discovery_cases-case57
Clinical Profile:
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
Cognitive Profile:
-
Sansovi I , et al. (2017)Primary Diagnosis: Developmental delay/intellectual disability
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 7311968
CNV End: 12546553
CNV Size: 5234586
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB109B, USP17L1, USP17L4, DEFB108C, DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, USP17L8, USP17L3, FAM90A11P, FAM90A24P, OR7E96P, MIR548I3, SNRPCP17, RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, DEFB109A, FAM90A25P, ALG1L12P, ZNF705G, SPAG11B, DEFB107B, DEFB107A, ZNF705B, FAM90A12P, ENPP7P1, FAM85B, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, FAM86B2, DEFB104B, SPAG11A, FAM66E, DEFB109C, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, FAM86B1, ENPP7P6, FAM66B, PRSS51, BLK
shin_15_ASD/DD/ID_discovery_cases-case5
Primary Diagnosis: Developmental delay
Age: 6 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8250230
CNV End: 12025404
CNV Size: 3775175
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
szatmari_07_ASD_discovery_cases-NAAR007-E6-8175-201
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 8265938
CNV End: 11527182
CNV Size: 3261245
Validation Description: Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, PRSS51, BLK
tzetis_12_DD/ID_discovery_cases-case26
Clinical Profile:
Prominent forehead, arched eyebrows, partial 2/3 syndactyly of toes, cleft palate, learning difficulties
Cognitive Profile:
-
Tzetis M , et al. (2012)Primary Diagnosis: DD/ID
Age: -
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8242862
CNV End: 11993172
CNV Size: 3750311
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, FAM86B3P, ALG1L13P, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
vaags_11_ASD_replication_cases_2-probandF4-003
Clinical Profile:
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Cognitive Profile:
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
Vaags AK , et al. (2012)Primary Diagnosis: Autism
Age: 3 yrs. 6 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 7258539
CNV End: 7948707
CNV Size: 690169
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: FAM90A3P, FAM90A13P, FAM90A5P, FAM90A20P, DEFB109B, USP17L1, USP17L4, DEFB108C, DEFB4B, HSPD1P3, DEFB103B, DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB103A, HSPD1P2, DEFB4A, DEFB108A, FAM90A15P, FAM90A4P, ZNF705G, SPAG11B, DEFB107B, DEFB107A, ZNF705B, DEFB104B, SPAG11A, FAM66B
van_daalen_11_ASD_discovery_cases-S6
Clinical Profile:
DSM-IV-TR classification: autistic disorder; ADOS-G classification: autistic disorder; ADI-R classification: autistic disorder. SRS score: 90. Family history of ASD and/or intellectual disability. Facial dysmorphic features, minor malformations & congenital anomalies. Family phenotypes: father's SRS score, 98; mother's SRS score, 45; sister1's SRS score, 65.
Cognitive Profile:
WISC-III-NL scores: non-verbal cognitive score, 73; verbal cognitive score, 61.
van Daalen E , et al. (2011)Primary Diagnosis: ASD
Age: 8 yrs. 7 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6390723
CNV End: 6456965
CNV Size: 66243
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
yin_16_ASD_discovery_cases-case298
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8229622
CNV End: 8245297
CNV Size: 15676
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
yin_16_ASD_discovery_cases-case299
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 8229622
CNV End: 8245297
CNV Size: 15676
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
yin_16_ASD_discovery_cases-case300
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 12024338
CNV End: 12077151
CNV Size: 52814
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB131C, DEFB130B
yin_16_ASD_discovery_cases-case301
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 12024338
CNV End: 12077151
CNV Size: 52814
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DEFB131C, DEFB130B
yin_16_ASD_discovery_cases-case302
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 12685212
CNV End: 12729881
CNV Size: 44670
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OR7E15P, OR7E10P, MIR5692A2, MIR3926-1, MIR3926-2, LONRF1
yin_16_ASD_discovery_cases-case303
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 12685212
CNV End: 12729881
CNV Size: 44670
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OR7E15P, OR7E10P, MIR5692A2, MIR3926-1, MIR3926-2, LONRF1
yin_16_ASD_discovery_cases-case304
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 12685212
CNV End: 12729881
CNV Size: 44670
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OR7E15P, OR7E10P, MIR5692A2, MIR3926-1, MIR3926-2, LONRF1
yin_16_ASD_discovery_cases-case305
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 12685212
CNV End: 12729881
CNV Size: 44670
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OR7E15P, OR7E10P, MIR5692A2, MIR3926-1, MIR3926-2, LONRF1
yin_16_ASD_discovery_cases-case306
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 12685212
CNV End: 12729881
CNV Size: 44670
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OR7E15P, OR7E10P, MIR5692A2, MIR3926-1, MIR3926-2, LONRF1
brandler_18_ASD_replication_cases-caseAU1933301
Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10748182
CNV End: 11028622
CNV Size: 280441
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1322, PINX1, XKR6
brandler_18_ASD_replication_cases-caseAU1933302
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10748182
CNV End: 11028622
CNV Size: 280441
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1322, PINX1, XKR6
feliciano_19_ASD_discovery_cases-caseSP0011734
Clinical Profile:
Family history: father presents with anxiety and depression.
Cognitive Profile:
-
Feliciano P et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8318154
CNV End: 11919857
CNV Size: 3601704
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL178P, CLDN23, RNU6-682P, MIR4660, RNU7-55P, RNU6-1151P, RNU6-526P, MIR597, LINC00599, MIR124-1, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00208, C8orf49, SUB1P1, PRAG1, MFHAS1, RPL10P19, PPP1R3B, PRSS55, C8orf74, LINC00529, MTMR9, TDH, FAM167A, GATA4, NEIL2, CTSB, ERI1, TNKS, MSRA, RP1L1, PINX1, XKR6, FAM167A-AS1, FDFT1, PRSS51, BLK
feliciano_19_ASD_discovery_cases-caseSP0012909
Clinical Profile:
Family history: both parents negative for ASD; no mental health diagnoses reported for the father (mother unknown).
Cognitive Profile:
-
Feliciano P et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10428148
CNV End: 11285071
CNV Size: 856924
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, RPL19P13, PRSS55, C8orf74, LINC00529, MTMR9, MSRA, RP1L1, PINX1, XKR6, PRSS51
feliciano_19_ASD_discovery_cases-caseSP0033656
Clinical Profile:
Family history: both parents present with anxiety.
Cognitive Profile:
-
Feliciano P et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6519864
CNV End: 6643050
CNV Size: 123187
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8055, MCPH1, ANGPT2, MCPH1-AS1
kushima_18_ASD_discovery_cases-caseASD0179
Clinical Profile:
Family history: negative.
Cognitive Profile:
Intellectual disability (IQ < 70)
Kushima I , et al. (2018)Primary Diagnosis: ASD, ID
Age: 21 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 9998540
CNV End: 10117911
CNV Size: 119372
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
kushima_18_SCZ_discovery_cases-caseSCZ2291
Clinical Profile:
No additional clinical information reported for this individual. Family history: unknown.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia
Age: 55 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 10252025
CNV End: 10336231
CNV Size: 84207
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kushima_22_ASD_discovery_cases-caseASD0179
Clinical Profile:
Diagnosis of ASD according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 9998539
CNV End: 10117911
CNV Size: 119373
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MSRA, MSRA-DT
kushima_22_BPD_discovery_cases-caseBD0407
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10209476
CNV End: 10285173
CNV Size: 75698
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_BPD_discovery_cases-caseBD0457
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10007412
CNV End: 10063429
CNV Size: 56018
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MSRA, MSRA-DT
kushima_22_BPD_discovery_cases-caseBD0990
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6594405
CNV End: 6630258
CNV Size: 35854
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MCPH1, MCPH1-AS1, MIR8055
kushima_22_BPD_discovery_cases-caseBD1299
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10291739
CNV End: 10330175
CNV Size: 38437
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_BPD_discovery_cases-caseBD2010
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10198833
CNV End: 10291740
CNV Size: 92908
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_SCZ_discovery_cases-caseSCZ2291
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10252024
CNV End: 10336231
CNV Size: 84208
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_SCZ_discovery_cases-caseSCZ3241
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10085157
CNV End: 10198834
CNV Size: 113678
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_SCZ_discovery_cases-caseSCZ3382
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6594405
CNV End: 6630258
CNV Size: 35854
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MCPH1, MCPH1-AS1, MIR8055
yuan_23_ASD_discovery_cases-qma01044s000
Clinical Profile:
Case diagnosed with ASD according to DSM-IV criteria.
Cognitive Profile:
-
Yuan B et al. (2023)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 9579910
CNV End: 10096293
CNV Size: 516384
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR124-1HG, MIR124-1, MIR597, MSRA, MSRA-DT, TNKS
Show all Control Details
Show all Cohort Details
No control populations reported.
Show all Control Details
Show all Cohort Details
engchuan_15_ASD_discovery_controls-control110036014918_
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8246260
CNV End: 8288087
CNV Size: 41828
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-control110036024602_
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10235718
CNV End: 10669232
CNV Size: 433515
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINCR-0001, RNU6-729P, MIR4286, PRSS55, MSRA, RP1L1, PRSS51
engchuan_15_ASD_discovery_controls-controlB225412_1007841225
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8236884
CNV End: 8288087
CNV Size: 51204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlB250275_1007874021
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 12033820
CNV End: 12390135
CNV Size: 356316
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, FAM86B1
engchuan_15_ASD_discovery_controls-controlB280220_1007852923
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8207524
CNV End: 8288087
CNV Size: 80564
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P1, FAM85B, FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlB289384_1007874635
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8236884
CNV End: 8267885
CNV Size: 31002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlB302261_1007874848
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6954037
CNV End: 7149893
CNV Size: 195857
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFA9P, DEFA10P, DEFT1P, DEFA1B, DEFT1P2, DEFA3, DEFA7P, DEFA5, RPS3AP30, SNRPCP6, DEFA1, DEFA11P
engchuan_15_ASD_discovery_controls-controlB362048_1007874568
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 9171903
CNV End: 9322624
CNV Size: 150722
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlB444410_1007852611
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6832754
CNV End: 6924749
CNV Size: 91996
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB1, RPL23AP96, DEFA6, GS1-24F4.2, XKR5
engchuan_15_ASD_discovery_controls-controlB507195_1007874871
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8236884
CNV End: 8288087
CNV Size: 51204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlB528818_1007853876
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8236884
CNV End: 8390548
CNV Size: 153665
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P, PRAG1
engchuan_15_ASD_discovery_controls-controlB542562_1007854322
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 9385918
CNV End: 9486468
CNV Size: 100551
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlB598149_1007874481
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8702388
CNV End: 8855385
CNV Size: 152998
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CLDN23, MFHAS1
engchuan_15_ASD_discovery_controls-controlB662268_1007853570
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10038301
CNV End: 10196372
CNV Size: 158072
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlB717789_1007873953
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 9126792
CNV End: 9565416
CNV Size: 438625
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1151P, RNU6-526P, PPP1R3B, TNKS
engchuan_15_ASD_discovery_controls-controlB742681_1007852619
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8236884
CNV End: 8288087
CNV Size: 51204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlB747654_1007844423
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8207524
CNV End: 8288087
CNV Size: 80564
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P1, FAM85B, FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlB772297_1007873646
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8235718
CNV End: 8288087
CNV Size: 52370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlB921092_1007872230
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6873965
CNV End: 6971563
CNV Size: 97599
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB1, RPL23AP96, DEFA6, DEFA4, DEFA8P, DEFA9P, DEFA10P, GS1-24F4.2
engchuan_15_ASD_discovery_controls-controlB926936_1007854182
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 11771732
CNV End: 12403541
CNV Size: 631810
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SUB1P1, OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, DEFB109A, NEIL2, CTSB, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, FDFT1, FAM86B1
engchuan_15_ASD_discovery_controls-controlHABC_900087_900087
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 11898004
CNV End: 12071913
CNV Size: 173910
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: OR7E158P, OR7E161P, DEFB136, DEFB135, DEFB134, DEFB131E, DEFB131C, DEFB130B
engchuan_15_ASD_discovery_controls-controlHABC_900284_900284
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8240557
CNV End: 8305721
CNV Size: 65165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_900296_900296
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8235718
CNV End: 8288087
CNV Size: 52370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_900312_900312
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8240557
CNV End: 8288087
CNV Size: 47531
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_900339_900339
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10132848
CNV End: 10189128
CNV Size: 56281
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_900361_900361
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 11212451
CNV End: 11452781
CNV Size: 240331
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL19P13, SLC35G5, RN7SL293P, RNU6-1084P, LINC00529, MTMR9, TDH, FAM167A, FAM167A-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900453_900453
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8240557
CNV End: 8288087
CNV Size: 47531
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_900550_900550
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8240557
CNV End: 8288087
CNV Size: 47531
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_900888_900888
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8251733
CNV End: 8305721
CNV Size: 53989
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_901073_901073
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10390306
CNV End: 10429105
CNV Size: 38800
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_901182_901182
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8806277
CNV End: 8859461
CNV Size: 53185
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_901257_901257
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 12003336
CNV End: 12377064
CNV Size: 373729
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB131E, DEFB131C, DEFB130B, RNA5SP253, DEFB108D, USP17L7, USP17L2, DEFB109D, ALG1L11P, DEFB131D, DEFB130A, RNA5SP254, DEFB108E, ZNF705CP, ZNF705D, FAM66D, FAM90A2P, ENPP7P12, FAM66A, FAM86B1
engchuan_15_ASD_discovery_controls-controlHABC_901257_901257
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10754198
CNV End: 10800086
CNV Size: 45889
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_902545_902545
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8235718
CNV End: 8288087
CNV Size: 52370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_902557_902557
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8240557
CNV End: 8288087
CNV Size: 47531
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
engchuan_15_ASD_discovery_controls-controlHABC_902800_902800
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6444633
CNV End: 6610465
CNV Size: 165833
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MCPH1, ANGPT2
engchuan_15_ASD_discovery_controls-controlHABC_902886_902886
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8240557
CNV End: 8288087
CNV Size: 47531
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM86B3P, ALG1L13P
girirajan_13b_ASD_discovery_controls-40804101794
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10891773
CNV End: 10958196
CNV Size: 66424
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-54104102012
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10891773
CNV End: 10958196
CNV Size: 66424
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-70005105416
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 10891773
CNV End: 10981288
CNV Size: 89516
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kanduri_15_ASD_discovery_controls-control_split1302
Clinical Profile:
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
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 7692470
CNV End: 7918888
CNV Size: 226419
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB4A, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
kanduri_15_ASD_discovery_controls-control_split1305
Clinical Profile:
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
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8111659
CNV End: 8145440
CNV Size: 33782
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: Intergenic CNV: nearest genes, FAM86B3P(dist=9272),SGK223(dist=29818)
kanduri_15_ASD_discovery_controls-control_split1308
Clinical Profile:
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
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 7366447
CNV End: 7918888
CNV Size: 552442
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
kanduri_15_ASD_discovery_controls-control_split216
Clinical Profile:
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
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8318850
CNV End: 8450761
CNV Size: 131912
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: Intergenic CNV: nearest genes, SGK223(dist=79593),CLDN23(dist=108905)
kanduri_15_ASD_discovery_controls-control_split437
Clinical Profile:
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
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8318850
CNV End: 8439068
CNV Size: 120219
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: Intergenic CNV: nearest genes, SGK223(dist=79593),CLDN23(dist=120598)
kanduri_15_ASD_discovery_controls-control_split507
Clinical Profile:
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
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 8318850
CNV End: 8448429
CNV Size: 129580
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: Intergenic CNV: nearest genes, SGK223(dist=79593),CLDN23(dist=111237)
kanduri_15_ASD_discovery_controls-control_split849
Clinical Profile:
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
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 7366447
CNV End: 7764379
CNV Size: 397933
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, PRR23D1, PRR23D2, SPAG11A, SPAG11B
krumm_15_ASD_discovery_controls-control12861.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6406667
CNV End: 6445555
CNV Size: 38889
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_controls-control13802.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6406667
CNV End: 6445555
CNV Size: 38889
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
leppa_16_ASD_discovery_controls-AU1156302
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 9931490
CNV End: 11175491
CNV Size: 1244002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: LINCR-0001, RNU6-729P, MIR4286, RNA5SP252, SOX7, MIR1322, MIR598, PRSS55, C8orf74, MSRA, RP1L1, PINX1, XKR6, PRSS51
levy_11_ASD_discovery_controls-11335.s1
Primary Diagnosis: Control
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 11534447
CNV End: 11571536
CNV Size: 37090
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
levy_11_ASD_discovery_controls-11447.s1
Primary Diagnosis: Control
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6772869
CNV End: 6966547
CNV Size: 193679
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DEFB1, RPL23AP96, DEFA6, DEFA4, DEFA8P, DEFA9P, GS1-24F4.2, XKR5
levy_11_ASD_discovery_controls-11447.s1
Primary Diagnosis: Control
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6971306
CNV End: 7202724
CNV Size: 231419
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DEFT1P, DEFA1B, DEFT1P2, DEFA3, DEFA7P, DEFA5, RPS3AP30, SNRPCP6, SNRPCP15, RPS3AP33, DEFA1, DEFA11P
poultney_13_ASD_discovery_controls-control04C31229A
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 7462705
CNV End: 7863537
CNV Size: 400833
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
poultney_13_ASD_discovery_controls-control04C38268A
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 7462705
CNV End: 7863537
CNV Size: 400833
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
poultney_13_ASD_discovery_controls-control05C39242A
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 7462705
CNV End: 7863537
CNV Size: 400833
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
poultney_13_ASD_discovery_controls-control05C39664
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 7486332
CNV End: 7863537
CNV Size: 377206
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, DEFB107B, DEFB107A, SPAG11A
poultney_13_ASD_discovery_controls-control05C41452A
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 7462705
CNV End: 7863537
CNV Size: 400833
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB106B, DEFB105B, PRR23D1, FAM90A6P, FAM90A21P, OR7E157P, OR7E154P, PRR23D2, DEFB105A, DEFB106A, DEFB104A, SPAG11B, DEFB107B, DEFB107A, DEFB104B, SPAG11A
poultney_13_ASD_discovery_controls-control05C45097
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 11973935
CNV End: 11996253
CNV Size: 22319
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DEFB136, DEFB135, DEFB134
sanders_11_ASD_discovery_controls-11030.s1
Primary Diagnosis: Control (matched sibling)
Age: 5.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11037.s1
Primary Diagnosis: Control (matched sibling)
Age: 6.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11079.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11089.s1
Primary Diagnosis: Control (matched sibling)
Age: 9.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 8725599
CNV End: 8728506
CNV Size: 2908
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11118.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 8725599
CNV End: 8728506
CNV Size: 2908
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11168.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11399.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11504.s1
Primary Diagnosis: Control (matched sibling)
Age: 5.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11519.s1
Primary Diagnosis: Control (matched sibling)
Age: 4.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11543.s1
Primary Diagnosis: Control (matched sibling)
Age: 18.1
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11666.s1
Primary Diagnosis: Control (matched sibling)
Age: 9.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 10771437
CNV End: 10777807
CNV Size: 6371
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11716.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 10103735
CNV End: 10121634
CNV Size: 17900
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11982.s1
Primary Diagnosis: Control (matched sibling)
Age: 5.1
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11993.s1
Primary Diagnosis: Control (matched sibling)
Age: 5.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9196404
CNV End: 9204980
CNV Size: 8577
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12121.s1
Primary Diagnosis: Control (matched sibling)
Age: 6.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12339.s1
Primary Diagnosis: Control (matched sibling)
Age: 12.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12360.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 8722943
CNV End: 8730079
CNV Size: 7137
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12361.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9227707
CNV End: 9278055
CNV Size: 50349
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12366.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 6633144
CNV End: 6648428
CNV Size: 15285
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: MCPH1, MCPH1-AS1
sanders_11_ASD_discovery_controls-12382.s1
Primary Diagnosis: Control (matched sibling)
Age: 12.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12626.s1
Primary Diagnosis: Control (matched sibling)
Age: 16.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 8725599
CNV End: 8730079
CNV Size: 4481
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12628.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.6
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12637.s1
Primary Diagnosis: Control (matched sibling)
Age: 5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 8725599
CNV End: 8730079
CNV Size: 4481
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12715.s1
Primary Diagnosis: Control (matched sibling)
Age: 4.2
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12930.s1
Primary Diagnosis: Control (matched sibling)
Age: 14.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9169129
CNV End: 9188802
CNV Size: 19674
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-13089.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.1
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-13266.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 9198198
CNV End: 9204980
CNV Size: 6783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
brandler_18_ASD_discovery_controls-controlSSC08632
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 11895661
CNV End: 11899370
CNV Size: 3710
Validation Description: SNP VCF
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
leblond_19_ASD_discovery_controls-controlPN400281
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6708663
CNV End: 6757460
CNV Size: 48798
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR4659A, MIR4659B, AGPAT5
Genes associated with 8p23.1(0 Models)
Sort By:
| MCPH1 | 12 / 19 | Rare Single Gene Mutation |
Score2 |
| MSRA | 3 / 13 | Rare Single Gene Mutation, Genetic Association, Functional |
Score3 |