1q21.1
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
900285Range
145900678-147965543Associated Human Genes
-Associated Mouse Models
-Autism Reports
53Populations
64 (58 case / 6 control)Individuals
924 (811 case / 113 control)Summary
CNVs observed within this locus include many genes. Individuals with microdeletions at the 1q21.1 locus can have variable clinical manifestations, such as microcephaly and intellectual disability.
External Links
Reports related to 1q21.1 (53 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 | Clinical genetic testing for patients with autism spectrum disorders. | Shen Y , et al. (2010) |
| 4 | Major | Functional impact of global rare copy number variation in autism spectrum disorders. | Pinto D , et al. (2010) |
| 5 | Major | Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. | Rosenfeld JA , et al. (2010) |
| 6 | Major | De novo rates and selection of large copy number variation. | Itsara A , et al. (2010) |
| 7 | Minor | Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. | Wang LS , et al. (2010) |
| 8 | Minor | Rare structural variation of synapse and neurotransmission genes in autism. | Gai X , et al. (2011) |
| 9 | Minor | Novel copy number variants in children with autism and additional developmental anomalies. | Davis LK , et al. (2009) |
| 10 | Major | Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. | Sanders SJ , et al. (2011) |
| 11 | Minor | Rare de novo and transmitted copy-number variation in autistic spectrum disorders. | Levy D , et al. (2011) |
| 12 | 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) |
| 13 | Minor | Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay. | Sahoo T , et al. (2011) |
| 14 | Minor | Relative burden of large CNVs on a range of neurodevelopmental phenotypes. | Girirajan S , et al. (2011) |
| 15 | Minor | Rare deletions at the neurexin 3 locus in autism spectrum disorder. | Vaags AK , et al. (2012) |
| 16 | Minor | SHANK1 Deletions in Males with Autism Spectrum Disorder. | Sato D , et al. (2012) |
| 17 | Major | Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. | Griswold AJ , et al. (2012) |
| 18 | Minor | The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization. | Tzetis M , et al. (2012) |
| 19 | Minor | Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders. | Ye T , et al. (2012) |
| 20 | Minor | Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not? | Van Den Bossche MJ , et al. (2012) |
| 21 | Major | Phenotypic heterogeneity of genomic disorders and rare copy-number variants. | Girirajan S , et al. (2012) |
| 22 | Minor | A discovery resource of rare copy number variations in individuals with autism spectrum disorder. | Prasad A , et al. (2013) |
| 23 | Minor | Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. | Handrigan GR , et al. (2013) |
| 24 | Major | Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. | Girirajan S , et al. (2013) |
| 25 | Major | Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. | Nguyen LS , et al. (2013) |
| 26 | Minor | Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. | Lionel AC , et al. (2013) |
| 27 | Major | Global increases in both common and rare copy number load associated with autism. | Girirajan S , et al. (2013) |
| 28 | Major | Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ... | Battaglia A , et al. (2013) |
| 29 | Minor | Transmission disequilibrium of small CNVs in simplex autism. | Krumm N , et al. (2013) |
| 30 | Minor | Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. | Poultney CS , et al. (2013) |
| 31 | Major | 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) |
| 32 | Major | Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH. | Kousoulidou L , et al. (2013) |
| 33 | Major | Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. | Pinto D , et al. (2014) |
| 34 | Minor | Refining analyses of copy number variation identifies specific genes associated with developmental delay. | Coe BP , et al. (2014) |
| 35 | Minor | Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. | Woodbury-Smith M , et al. (2014) |
| 36 | Major | Performance of case-control rare copy number variation annotation in classification of autism. | Engchuan W , et al. (2015) |
| 37 | Major | Excess of rare, inherited truncating mutations in autism. | Krumm N , et al. (2015) |
| 38 | Minor | Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis... | Shin S , et al. (2015) |
| 39 | Minor | Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. | Yin CL , et al. (2016) |
| 40 | Major | Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. | Fry AE , et al. (2016) |
| 41 | Minor | Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou... | Xu Q , et al. (2016) |
| 42 | Minor | Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder. | Mosca SJ , et al. (2016) |
| 43 | Minor | Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. | Pfundt R , et al. (2016) |
| 44 | Major | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) |
| 45 | Minor | Copy number variation analysis of patients with intellectual disability from North-West Spain. | Quintela I , et al. (2017) |
| 46 | 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) |
| 47 | Minor | Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications. | Kalsner L , et al. (2017) |
| 48 | Minor | Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. | Kushima I , et al. (2018) |
| 49 | Minor | Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes | Feliciano P et al. (2019) |
| 50 | Minor | Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants | Tuncay IO et al. (2022) |
| 51 | Minor | Diagnostic yield of patients with undiagnosed intellectual disability | Leite AJDC et al. (2022) |
| 52 | Major | Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder | Kushima I et al. (2022) |
| 53 | Minor | - | Tuncay IO et al. (2023) |
Show all Case Details
Show all Cohort Details
1q21.1
Description:
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
Diagnosis:
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Battaglia A , et al. (2013)Cohort Size: 349
Age Min: 43
Age Max: 43
Average: 43
Male: -
Female: 100
Unknown: -
CNV Size: 1200000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH, array SNP
Validation Method:
FISH, qPCR
Platform: BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Italy
1q21.1
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: 340000
Deletion: 25
Duplication: 56
Total CNV: 81
Discovery Method:
aCGH
Validation Method:
None
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A
1q21.1
Description:
Autistic cases from Autism Genetic Research Exchange (AGRE)
Diagnosis:
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
Davis LK , et al. (2009)Cohort Size: 36
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1093961
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 250K Nsp, Affymetrix 250K Syt
Software: CNAG v2.0
Algorithm: HMM
Geographical Ancestry: NA
1q21.1
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: 1877403
Deletion: 15
Duplication: 15
Total CNV: 30
Discovery Method:
Solid phase hybridization
Validation Method:
Yes
Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
1q21.1
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: 332474
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
WES
Validation Method:
None
Platform: Illumina HumanCoreExome 550K
Software: CoNIFER, XHMM
Algorithm: -
Geographical Ancestry: N/A
1q21.1
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: 1325311
Deletion: 0
Duplication: 4
Total CNV: 4
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European
1q21.1
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: 312
Age Max: 312
Average: 312
Male: -
Female: 100
Unknown: -
CNV Size: 98000
Deletion: 0
Duplication: 1
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
1q21.1
Description:
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
Diagnosis:
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
Girirajan S , et al. (2011)Cohort Size: 336
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 3
Unknown: 47
CNV Size: 364942
Deletion: 14
Duplication: 2
Total CNV: 16
Discovery Method:
aCGH
Validation Method:
None
Platform: Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
Software: -
Algorithm: HMM
Geographical Ancestry: -
1q21.1
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: 24
Age Max: 120
Average: 62.666666666667
Male: 3
Female: 1
Unknown: 96
CNV Size: 820000
Deletion: 100
Duplication: 81
Total CNV: 181
Discovery Method:
aCGH
Validation Method:
FISH, aCGH, or confirmation by inheritance
Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -
1q21.1
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: 1250000
Deletion: 4
Duplication: 8
Total CNV: 12
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
1q21.1
Description:
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
Diagnosis:
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Griswold AJ , et al. (2012)Cohort Size: 813
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 893092
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Software: BeadStudio
Algorithm: Penn CNV, QuantiSNP
Geographical Ancestry: Range of self-reported ethnicities (specifics NA)
1q21.1
Description:
Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
Diagnosis:
22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
Handrigan GR , et al. (2013)Cohort Size: 35
Age Min: 108
Age Max: 108
Average: 108
Male: -
Female: 100
Unknown: -
CNV Size: 1677205
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH, solid phase hybridization
Validation Method:
None
Platform: Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
Software: -
Algorithm: -
Geographical Ancestry: NA
1q21.1
Description:
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
Diagnosis:
Developmental delay
Girirajan S , et al. (2013)Cohort Size: 31518
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1250000
Deletion: 47
Duplication: 51
Total CNV: 98
Discovery Method:
N/A
Validation Method:
None
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: NA
1q21.1
Description:
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
Diagnosis:
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
Girirajan S , et al. (2013)Cohort Size: 243
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 864201
Deletion: 6
Duplication: 7
Total CNV: 13
Discovery Method:
aCGH
Validation Method:
aCGH (Agilent hotspot 2x400K)
Platform: Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
Software: -
Algorithm: DNA Copy Number v1.6
Geographical Ancestry: 133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
1q21.1
Description:
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
Diagnosis:
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
Itsara A , et al. (2010)Cohort Size: 1330
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1279563
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
Solid phase hybridization
Validation Method:
aCGH (custom NimbleGen 12 X 135)
Platform: Illumina HumanHap550v1 and v3 SNP array
Software: Illumina GenomeStudio
Algorithm: HMM
Geographical Ancestry: -
1q21.1
Description:
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
Diagnosis:
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Kalsner L , et al. (2017)Cohort Size: 100
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 800000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
CMA
Validation Method:
None
Platform: Platform not reported
Software: -
Algorithm: -
Geographical Ancestry: 52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
1q21.1
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: 4986056
Deletion: 80
Duplication: 42
Total CNV: 122
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
1q21.1
Description:
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
Diagnosis:
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
Krumm N , et al. (2013)Cohort Size: 411
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: 51696
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WES
Validation Method:
None
Platform: Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A
1q21.1
Description:
Cypriot patients with ASD or autistic features
Diagnosis:
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Kousoulidou L , et al. (2013)Cohort Size: 50
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 2240000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
qPCR
Platform: Agilent 400K custom array-CGH
Software: Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
Algorithm: -
Geographical Ancestry: Cyprus
1q21.1
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: 100
Female: -
Unknown: -
CNV Size: 508662
Deletion: 0
Duplication: 1
Total CNV: 1
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
1q21.1
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: 396
Age Max: 888
Average: 607.63636363636
Male: 36
Female: 64
Unknown: -
CNV Size: 3514332
Deletion: 8
Duplication: 3
Total CNV: 11
Discovery Method:
aCGH
Validation Method:
N/A
Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese
1q21.1
Description:
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
Diagnosis:
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
Leite AJDC et al. (2022)Cohort Size: 369
Age Min: 48
Age Max: 48
Average: 48
Male: -
Female: 100
Unknown: -
CNV Size: 404108
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
CMA
Validation Method:
None
Platform: Thermofisher GeneChip CytoScanHD
Software: ThermoFisher ChAS v.3.0
Algorithm: NA
Geographical Ancestry: Brazil
1q21.1
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: 397543
Deletion: 1
Duplication: 0
Total CNV: 1
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
1q21.1
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: 446403
Deletion: 2
Duplication: 0
Total CNV: 2
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
1q21.1
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: 25
Female: 75
Unknown: -
CNV Size: 421464
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
-
Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -
1q21.1
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: 180
Average: 180
Male: 100
Female: -
Unknown: -
CNV Size: 427235
Deletion: 1
Duplication: 0
Total CNV: 1
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
1q21.1
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: 215000
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
1q21.1
Description:
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
Diagnosis:
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Mosca SJ , et al. (2016)Cohort Size: 82
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 463276
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina HumanOmni2.5-Quad BeadChip
Software: -
Algorithm: iPattern, PennCNV, QuantiSNP, CNVPartition
Geographical Ancestry: Canada
1q21.1
Description:
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
Diagnosis:
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
Nguyen LS , et al. (2013)Cohort Size: 57365
Age Min: -
Age Max: -
Average: -
Male: 8
Female: 6
Unknown: 86
CNV Size: N/A
Deletion: 45
Duplication: 94
Total CNV: 139
Discovery Method:
aCGH
Validation Method:
FISH
Platform: SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
Software: -
Algorithm: -
Geographical Ancestry: N/A
1q21.1
Description:
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
Diagnosis:
Neurodevelopmental disorders
Pfundt R , et al. (2016)Cohort Size: 1215
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1196755
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
WES
Validation Method:
None
Platform: Solid5500xl, IlluminaHiSeq2000
Software: CoNIFER
Algorithm: -
Geographical Ancestry: N/A
1q21.1
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: 75
Female: 25
Unknown: -
CNV Size: 1470000
Deletion: 2
Duplication: 2
Total CNV: 4
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
1q21.1
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: 82
Female: 18
Unknown: -
CNV Size: 344353
Deletion: 3
Duplication: 6
Total CNV: 9
Discovery Method:
WES
Validation Method:
None
Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European
1q21.1
Description:
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
Diagnosis:
Cases classified according to ADOS and ADI-R
Pinto D , et al. (2014)Cohort Size: 1359
Age Min: 204
Age Max: 204
Average: 204
Male: 100
Female: -
Unknown: -
CNV Size: 1877404
Deletion: 1
Duplication: 2
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, MLPA, long-range PCR
Platform: Illumina 1M (v.1 and v.3)
Software: -
Algorithm: -
Geographical Ancestry: Predominantly European
1q21.1
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: 100
Female: -
Unknown: -
CNV Size: 182649
Deletion: 0
Duplication: 2
Total CNV: 2
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
1q21.1
Description:
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
Diagnosis:
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Quintela I , et al. (2017)Cohort Size: 573
Age Min: 180
Age Max: 180
Average: 180
Male: 100
Female: -
Unknown: -
CNV Size: 427157
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Software: Affymetrix ChAS v.1.2.2
Algorithm: -
Geographical Ancestry: North West Spain
1q21.1
Description:
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
Diagnosis:
ASD
Rosenfeld JA , et al. (2010)Cohort Size: 1461
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 641794
Deletion: 4
Duplication: 3
Total CNV: 7
Discovery Method:
aCGH
Validation Method:
FISH
Platform: BACs aCGH, whole-genome oligo-aCGH
Software: -
Algorithm: -
Geographical Ancestry: -
1q21.1
Description:
Patients referred for microarray testing to Signature Genomic Laboratories for physical and/or intellectual disability and/or dysmorphic features
Diagnosis:
Developmental delay (DD)
Sahoo T , et al. (2011)Cohort Size: 2
Age Min: 43
Age Max: 43
Average: 43
Male: 100
Female: -
Unknown: -
CNV Size: 358000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: SignatureChipOS v2.0 135K array
Software: -
Algorithm: -
Geographical Ancestry: NA
1q21.1
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: 170212
Deletion: 0
Duplication: 4
Total CNV: 4
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian
1q21.1
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: 78
Female: 22
Unknown: -
CNV Size: 1820132
Deletion: 6
Duplication: 14
Total CNV: 20
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
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&
1q21.1
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: 84
Age Max: 132
Average: 108
Male: 50
Female: 50
Unknown: -
CNV Size: 384000
Deletion: 0
Duplication: 2
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
1q21.1
Description:
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
Diagnosis:
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
Shen Y , et al. (2010)Cohort Size: 848
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 400000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH, array SNP
Validation Method:
None
Platform: Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
Software: CGH Analytics, DNA Analytics software
Algorithm: BRLMM, CNAT4, Partek Genomic Suite
Geographical Ancestry: -
1q21.1
Description:
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
Diagnosis:
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
Sato D , et al. (2012)Cohort Size: 1614
Age Min: 384
Age Max: 384
Average: 384
Male: 100
Female: -
Unknown: -
CNV Size: 338928
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH, array SNP, solid phase hybridization
Validation Method:
None
Platform: Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
Software: -
Algorithm: DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
Geographical Ancestry: Canadian (n=1158) and European (n=456)
1q21.1
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: 12
Age Max: 12
Average: 12
Male: 100
Female: -
Unknown: -
CNV Size: 376000
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
1q21.1
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: 1114000
Deletion: 1
Duplication: 3
Total CNV: 4
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: -
1q21.1
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: 328199
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 44K & 244K
Software: -
Algorithm: -
Geographical Ancestry: NA
1q21.1
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: 2540000
Deletion: 1
Duplication: 0
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
1q21.1
Description:
Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
Diagnosis:
Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.
Van Den Bossche MJ , et al. (2012)Cohort Size: 676
Age Min: -
Age Max: -
Average: -
Male: 92
Female: 8
Unknown: -
CNV Size: 0
Deletion: 0
Duplication: 0
Total CNV: 0
Discovery Method:
MAQ
Validation Method:
None
Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: 264 from Belgium, 305 from Sweden, 107 from Scotland
1q21.1
Description:
Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.
Diagnosis:
Intellectual disability (ID). Cases with total IQ<70 met definition of ID.
Van Den Bossche MJ , et al. (2012)Cohort Size: 260
Age Min: -
Age Max: -
Average: -
Male: 92
Female: 8
Unknown: -
CNV Size: 703000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
MAQ
Validation Method:
None
Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: Scotland
1q21.1
Description:
Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
Diagnosis:
Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.
Van Den Bossche MJ , et al. (2012)Cohort Size: 169
Age Min: -
Age Max: -
Average: -
Male: 92
Female: 8
Unknown: -
CNV Size: 0
Deletion: 0
Duplication: 0
Total CNV: 0
Discovery Method:
MAQ
Validation Method:
None
Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: Scotland
1q21.1
Description:
Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
Diagnosis:
Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.
Van Den Bossche MJ , et al. (2012)Cohort Size: 1281
Age Min: -
Age Max: -
Average: -
Male: 92
Female: 8
Unknown: -
CNV Size: 703000
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
MAQ
Validation Method:
None
Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: 170 from Belgium, 543 from Sweden, 568 from Scotland
1q21.1
Description:
ASD probands from 22 families (20 trios, 1 quad with two affected siblings, and 1 quad with an affected proband and his unaffected fraternal twin) with recent shared ancestry that were recruited either from Jordan or from the Dallas/Fort Worth area.
Diagnosis:
Cases diagnosed with ASD based on standard autism diagnostic measures (ADOS, ADI-R, DSM-V)
Tuncay IO et al. (2022)Cohort Size: 23
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1110382
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
-
Platform: Illumina HiSeq X
Software: -
Algorithm: -
Geographical Ancestry: Predominantly Middle Eastern, South Asian, and European
1q21.1
Description:
ASD probands from East African families with at least one child affected with ASD (30 simplex families, 3 multiplex families).
Diagnosis:
Cases diagnosed with ASD using ADOS, ADI-R, and DSM-V.
Tuncay IO et al. (2023)Cohort Size: 36
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 55573
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
WGS
Validation Method:
None
Platform: Illumina NovaSeq 6000
Software: CNVkit, GISTIC2.0.
Algorithm: NA
Geographical Ancestry: East Africa (Ethiopia, Eritrea, Kenya)
1q21.1
Description:
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
Diagnosis:
ASD (according to DSM-IV criteria)
Wang LS , et al. (2010)Cohort Size: 103
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 882000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina HumanHap550 BeadChip
Software: BeadStudio
Algorithm: PennCNV
Geographical Ancestry: Croatian
1q21.1
Description:
Samples from brains >13 years of age provided by the Stanley Medical Research Institute and the Clinical Brain Disorders Branch of NIMH
Diagnosis:
Autism (ASD), n=10; bipolar disorder (BPD), n=84; major depressive disorder (MDD), n=154; schizophrenia (SCZ), n=193
Ye T , et al. (2012)Cohort Size: 486
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 1600000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina 1M Duo SNP chip
Software: Illumina GenomeStudio V2010.1
Algorithm: PennCNV, QuantiSNP
Geographical Ancestry: NA
1q21.1
Description:
Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
Diagnosis:
Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
Woodbury-Smith M , et al. (2014)Cohort Size: 19
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 109317
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina HumanOmni2.5 BeadChip
Software: PennCNV, QuantiSNP, iPattern
Algorithm: -
Geographical Ancestry: US and Canada
1q21.1
Description:
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
Diagnosis:
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Xu Q , et al. (2016)Cohort Size: 115
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1600000
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
aCGH, array SNP
Validation Method:
None
Platform: BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Software: Affymeytrix Genotyping Console v3.0.2
Algorithm: -
Geographical Ancestry: N/A
1q21.1
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: 299015
Deletion: 1
Duplication: 2
Total CNV: 3
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese
1q21.1
Description:
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
Diagnosis:
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
C Yuen RK et al. (2017)Cohort Size: 2626
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 364000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
WGS
Validation Method:
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
Platform: Complete Genomics, Illumina HiSeq 2000, HiSeq X
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Case Details
Show all Cohort Details
battaglia_13_DD/ID/ASD_discovery_cases-case31
Clinical Profile:
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Cognitive Profile:
Mild DD/ID
Battaglia A , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: 3 yrs. 7 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145031367
CNV End: 146201635
CNV Size: 1200000
Validation Description: FISH or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, NBPF8, NBPF24, NBPF11, NBPF10
coe_14_ASD/DD/ID_discovery_cases-case328
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case329
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case330
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case331
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case332
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case333
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case334
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case335
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case336
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case337
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case338
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case339
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case340
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case341
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case342
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case343
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case344
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case345
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case346
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case347
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case348
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case349
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case350
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case351
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case352
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case353
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case354
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case355
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case356
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case357
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case358
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case359
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case360
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case361
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case362
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case363
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case364
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case365
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case366
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case367
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case368
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case369
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case370
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case371
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case372
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case373
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case374
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case375
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case376
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case377
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case378
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case379
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case380
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case381
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case382
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case383
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case384
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case385
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case386
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case387
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case388
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case389
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case390
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case391
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case392
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case393
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case394
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case395
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case396
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case397
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case398
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case399
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case400
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case401
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case402
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case403
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case404
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case405
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case406
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case407
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
coe_14_ASD/DD/ID_discovery_cases-case408
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 145806439
CNV End: 146149534
CNV Size: 343096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, ANKRD35, RNF115
davis_09_ASD_discovery_cases-AU038303
Clinical Profile:
Diagnosis: Autism/spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
Cognitive Profile:
-
Davis LK , et al. (2009)Primary Diagnosis: Non-syndromic ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 144940574
CNV End: 146034535
CNV Size: 1093961
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: NBPF10, NBPF1
engchuan_15_ASD_discovery_cases-case13035_443
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: 147365734
CNV End: 147422858
CNV Size: 57125
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: OR13Z1P, LINC00624
engchuan_15_ASD_discovery_cases-case13135_1523
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: 145430980
CNV End: 148359881
CNV Size: 2928902
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2
engchuan_15_ASD_discovery_cases-case14088_1520
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: 145686865
CNV End: 146055345
CNV Size: 368481
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115
engchuan_15_ASD_discovery_cases-case14309_4260
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: 145601946
CNV End: 145813526
CNV Size: 211581
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115
engchuan_15_ASD_discovery_cases-case14330_4440
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: 145645929
CNV End: 145809105
CNV Size: 163177
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115
engchuan_15_ASD_discovery_cases-case14398_5070
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: 145689573
CNV End: 145813526
CNV Size: 123954
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115
engchuan_15_ASD_discovery_cases-case16035_1571013001
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: 145430980
CNV End: 148371305
CNV Size: 2940326
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2
engchuan_15_ASD_discovery_cases-case1962_301
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: 146788907
CNV End: 147292384
CNV Size: 503477
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -
engchuan_15_ASD_discovery_cases-case20000_1010002
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: 143509840
CNV End: 144630248
CNV Size: 1120409
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, IGKV1OR1-1, RNA5SP529, PPIAL4E, RNVU1-15, PFN1P6, PPIAL4F, NBPF17P, HIST2H2BB, FAM72C, DRD5P2, LINC01632, SRGAP2D, NBPF15
engchuan_15_ASD_discovery_cases-case20003_1019001
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: 146317915
CNV End: 146828254
CNV Size: 510339
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -
engchuan_15_ASD_discovery_cases-case20013_1075001
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: 143509840
CNV End: 144630248
CNV Size: 1120409
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, IGKV1OR1-1, RNA5SP529, PPIAL4E, RNVU1-15, PFN1P6, PPIAL4F, NBPF17P, HIST2H2BB, FAM72C, DRD5P2, LINC01632, SRGAP2D, NBPF15
engchuan_15_ASD_discovery_cases-case20022_1110001
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: 143509840
CNV End: 144630248
CNV Size: 1120409
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, IGKV1OR1-1, RNA5SP529, PPIAL4E, RNVU1-15, PFN1P6, PPIAL4F, NBPF17P, HIST2H2BB, FAM72C, DRD5P2, LINC01632, SRGAP2D, NBPF15
engchuan_15_ASD_discovery_cases-case20028_1134001
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: 143509840
CNV End: 144630248
CNV Size: 1120409
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, IGKV1OR1-1, RNA5SP529, PPIAL4E, RNVU1-15, PFN1P6, PPIAL4F, NBPF17P, HIST2H2BB, FAM72C, DRD5P2, LINC01632, SRGAP2D, NBPF15
engchuan_15_ASD_discovery_cases-case20110_1510001
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: 145686865
CNV End: 145823638
CNV Size: 136774
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115
engchuan_15_ASD_discovery_cases-case20161_1339001
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: 146336720
CNV End: 146608260
CNV Size: 271540
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -
engchuan_15_ASD_discovery_cases-case2198_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: 143509840
CNV End: 144630248
CNV Size: 1120409
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, HIST2H3PS2, RPL22P5, IGKV1OR1-1, RNA5SP529, PPIAL4E, RNVU1-15, PFN1P6, PPIAL4F, NBPF17P, HIST2H2BB, FAM72C, DRD5P2, LINC01632, SRGAP2D, NBPF15
engchuan_15_ASD_discovery_cases-case4020_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: 145686865
CNV End: 145809105
CNV Size: 122241
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115
engchuan_15_ASD_discovery_cases-case4159_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: 145679086
CNV End: 145813526
CNV Size: 134441
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, RNF115
engchuan_15_ASD_discovery_cases-case4291_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: 144967972
CNV End: 146317915
CNV Size: 1349943
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -
engchuan_15_ASD_discovery_cases-case4403_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: 145601946
CNV End: 145809105
CNV Size: 207160
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115
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: 145601946
CNV End: 146046863
CNV Size: 444918
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, GPR89A, ANKRD35, RNF115
engchuan_15_ASD_discovery_cases-case5114_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: 144434477
CNV End: 144659645
CNV Size: 225168
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -
engchuan_15_ASD_discovery_cases-case5262_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: 148263475
CNV End: 148397943
CNV Size: 134469
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, LINC01731, LINC01138
engchuan_15_ASD_discovery_cases-case5262_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: 145672100
CNV End: 146114776
CNV Size: 442677
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, ANKRD35, RNF115
engchuan_15_ASD_discovery_cases-case5283_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: 145663483
CNV End: 145809105
CNV Size: 145623
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115
engchuan_15_ASD_discovery_cases-case6150_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: 145701844
CNV End: 146046863
CNV Size: 345020
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115
engchuan_15_ASD_discovery_cases-case6362_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: 145624561
CNV End: 145813526
CNV Size: 188966
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDZK1, CD160, GPR89A, RNF115
engchuan_15_ASD_discovery_cases-case8413_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: 146386464
CNV End: 146608260
CNV Size: 221796
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -
engchuan_15_ASD_discovery_cases-case8587_210
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: 146387597
CNV End: 146608260
CNV Size: 220663
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -
engchuan_15_ASD_discovery_cases-case8635_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: 145430980
CNV End: 148439136
CNV Size: 3008157
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, RNVU1-6, LINC01719, RNU6-1071P, NUDT4P2, RNA5SP536, PFN1P8, RNU1-151P, CCT8P1, RPL7AP15, OR13Z1P, OR13Z2P, OR13Z3P, RN7SL261P, GJA8, RNU1-129P, RNVU1-7, PDE4DIPP1, PFN1P4, ABHD17AP1, RNA5SP57, RNU1-120P, MIR5087, RNU1-122P, RNVU1-1, MIR6077, RNU1-13P, RNVU1-3, NBPF25P, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, NBPF10, NOTCH2NLA, SEC22B4P, NBPF12, NBPF13P, PRKAB2, PDIA3P1, CHD1L, ACP6, GJA5, PDZK1P1, LINC01731, GPR89A, ANKRD35, FMO5, LINC00624, BCL9, GPR89B, NBPF11, LINC01138, RNF115, HYDIN2
fry_16_DD/ID/EP/ASD_discovery_cases-caseR58
Clinical Profile:
Clinical features: severe intellectual disability, scoliosis. Age of seizure onset: <8 years. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: atonic seizures, absence seizures, myoclonic seizures
Cognitive Profile:
Severe intellectual disability
Fry AE , et al. (2016)Primary Diagnosis: Intellectual disability and epilepsy
Age: 26 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 145711421
CNV End: 145809105
CNV Size: 97685
Validation Description: Solid phase hybridization (Illumina)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: CD160, RNF115
feliciano_19_ASD_discovery_cases-caseSP0017106
Clinical Profile:
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
Cognitive Profile:
-
Feliciano P et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 145687811
CNV End: 146020232
CNV Size: 332422
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115
feliciano_19_ASD_discovery_cases-caseSP0046081
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 145687811
CNV End: 146020231
CNV Size: 332421
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NUDT17, MIR6736, RBM8A, GNRHR2, ANKRD34A, TXNIP, PDZK1, CD160, POLR3C, PIAS3, ITGA10, PEX11B, LIX1L-AS1, LIX1L, POLR3GL, HJV, ANKRD35, RNF115
gai_11_ASD_discovery_cases-AU1163303
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 144970465
CNV End: 146293282
CNV Size: 1322818
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: LOC728989, PRKAB2, PDIA3P, FMO5, FMO5, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, LOC200030, NBPF11
gai_11_ASD_discovery_cases-AU1163304
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 144970465
CNV End: 146293282
CNV Size: 1322818
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: LOC728989, PRKAB2, PDIA3P, FMO5, FMO5, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, LOC200030, NBPF11
gai_11_ASD_discovery_cases-AU1610306
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 144967972
CNV End: 146293282
CNV Size: 1325311
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: LOC728989, PRKAB2, PDIA3P, FMO5, FMO5, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, LOC200030, NBPF11
gai_11_ASD_discovery_cases-AU1688302
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 144970465
CNV End: 146293282
CNV Size: 1322818
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: LOC728989, PRKAB2, PDIA3P, FMO5, FMO5, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, LOC200030, NBPF11
girirajan_11_ASD_discovery_cases-Si128
Clinical Profile:
ADOS score: 7. Vineland composite score: 69.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 83; Non-verbal IQ, 98.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 143815333
CNV End: 143965028
CNV Size: 149695
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL
girirajan_11_ASD_discovery_cases-Si162
Clinical Profile:
ADOS score: 7. Vineland composite score: 64.
Cognitive Profile:
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 145603130
CNV End: 145809109
CNV Size: 205980
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NBPF25P, PDZK1, CD160, GPR89A, RNF115
girirajan_11_ASD_discovery_cases-Si173
Clinical Profile:
ADOS score: 7. Vineland composite score: 75.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 67; Non-verbal IQ, 82.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 143820915
CNV End: 143970710
CNV Size: 149795
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL
girirajan_11_ASD_discovery_cases-Si177
Clinical Profile:
ADOS score: 8. Vineland composite score: 80.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 96; Non-verbal IQ, 75.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 143820915
CNV End: 143965028
CNV Size: 144113
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL
girirajan_11_ASD_discovery_cases-Si192
Clinical Profile:
ADOS score: 6. Vineland composite score: 85.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 60; Non-verbal IQ, 94.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 147365658
CNV End: 147419395
CNV Size: 53738
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OR13Z1P, LINC00624
girirajan_11_ASD_discovery_cases-Si217
Clinical Profile:
ADOS score: 7. Vineland composite score: 86.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 82; Non-verbal IQ, 90.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 143529898
CNV End: 143894882
CNV Size: 364985
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB
girirajan_11_ASD_discovery_cases-Si23
Clinical Profile:
ADOS score: 5. Vineland composite score: 96.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 105; Non-verbal IQ, 110.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 143564187
CNV End: 143894882
CNV Size: 330696
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB
girirajan_11_ASD_discovery_cases-Si24
Clinical Profile:
ADOS score: 10. Vineland composite score: 87.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 102; Non-verbal IQ, 74.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 14
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 143820915
CNV End: 143970710
CNV Size: 149795
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL
girirajan_11_ASD_discovery_cases-Si3
Clinical Profile:
ADOS score: 10. Vineland composite score: 110.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 80; Non-verbal IQ, 96.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 143820915
CNV End: 143970710
CNV Size: 149795
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL
girirajan_11_ASD_discovery_cases-Si313
Clinical Profile:
ADOS score: 8. Vineland composite score: 75.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 108; Non-verbal IQ, 108.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 13
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 143820915
CNV End: 143970710
CNV Size: 149795
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: SEC22B, NOTCH2NL
girirajan_11_ASD_discovery_cases-Si321
Clinical Profile:
ADOS score: 10. Vineland composite score: 67.
Cognitive Profile:
Moderate mental retardation/intellectual disability. Full-scale IQ, 54; Verbal IQ, 60; Non-verbal IQ, 59.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 148804487
CNV End: 148895213
CNV Size: 90727
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RN7SKP88, PDE4DIP
girirajan_11_ASD_discovery_cases-Si48
Clinical Profile:
ADOS score: 10. Vineland composite score: 57.
Cognitive Profile:
Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 30; Non-verbal IQ, 45.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 11
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 143529898
CNV End: 143894882
CNV Size: 364985
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB
girirajan_11_ASD_discovery_cases-Si66
Clinical Profile:
ADOS score: 7. Vineland composite score: 64.
Cognitive Profile:
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 50; Non-verbal IQ, 59.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 143564187
CNV End: 143894882
CNV Size: 330696
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB
girirajan_11_ASD_discovery_cases-Si79
Clinical Profile:
ADOS score: 8. Vineland composite score: 68.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 77; Non-verbal IQ, 83.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 16
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 143564187
CNV End: 143894882
CNV Size: 330696
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PFN1P12, RNU1-114P, RNVU1-17, RNU1-92P, RNVU1-18, FAM91A3P, LINC02591, RNU1-143P, FCGR1CP, NBPF17P, HIST2H2BB
girirajan_11_ASD_discovery_cases-Si85
Clinical Profile:
ADOS score: 9. Vineland composite score: 80.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 81; Non-verbal IQ, 101.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 13
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 147365658
CNV End: 147419395
CNV Size: 53738
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OR13Z1P, LINC00624
girirajan_11_ASD_discovery_cases-Si95
Clinical Profile:
ADOS score: 5. Vineland composite score: 73.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 98; Non-verbal IQ, 112.
Girirajan S , et al. (2011)