16p13.11
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
917307Range
14972499-16522499Associated Human Genes
-Associated Mouse Models
-Autism Reports
59Populations
72 (66 case / 6 control)Individuals
652 (504 case / 148 control)Summary
Summary statement in development
External Links
Reports related to 16p13.11 (59 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Major | Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. | Ullmann R , et al. (2007) |
| 2 | Major | Functional impact of global rare copy number variation in autism spectrum disorders. | Pinto D , et al. (2010) |
| 3 | Major | Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. | Rosenfeld JA , et al. (2010) |
| 4 | Minor | Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. | Wang LS , et al. (2010) |
| 5 | Minor | Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family. | Shen Y , et al. (2011) |
| 6 | Major | 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders. | Ramalingam A , et al. (2011) |
| 7 | 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) |
| 8 | Minor | Rare de novo and transmitted copy-number variation in autistic spectrum disorders. | Levy D , et al. (2011) |
| 9 | 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) |
| 10 | Minor | Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. | Leblond CS , et al. (2012) |
| 11 | Minor | Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. | Bartnik M , et al. (2012) |
| 12 | Major | Phenotypic heterogeneity of genomic disorders and rare copy-number variants. | Girirajan S , et al. (2012) |
| 13 | Major | Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. | Winiowiecka-Kowalnik B , et al. (2012) |
| 14 | Major | Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. | Girirajan S , et al. (2013) |
| 15 | Minor | Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. | Nguyen LS , et al. (2013) |
| 16 | Minor | Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. | Lionel AC , et al. (2013) |
| 17 | Minor | Global increases in both common and rare copy number load associated with autism. | Girirajan S , et al. (2013) |
| 18 | Major | Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. | Tropeano M , et al. (2013) |
| 19 | Major | Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ... | Battaglia A , et al. (2013) |
| 20 | Minor | The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. | Curry CJ , et al. (2013) |
| 21 | Major | Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. | Mulle JG , et al. (2013) |
| 22 | Minor | Transmission disequilibrium of small CNVs in simplex autism. | Krumm N , et al. (2013) |
| 23 | Minor | Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. | Poultney CS , et al. (2013) |
| 24 | 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) |
| 25 | Major | Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. | Pinto D , et al. (2014) |
| 26 | MiMinorr | Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. | Chaudhry A , et al. (2014) |
| 27 | Minor | Refining analyses of copy number variation identifies specific genes associated with developmental delay. | Coe BP , et al. (2014) |
| 28 | Minor | Large-scale discovery of novel genetic causes of developmental disorders. | Deciphering Developmental Disorders Study (2014) |
| 29 | Minor | Performance of case-control rare copy number variation annotation in classification of autism. | Engchuan W , et al. (2015) |
| 30 | Major | Excess of rare, inherited truncating mutations in autism. | Krumm N , et al. (2015) |
| 31 | Minor | Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. | Addis L , et al. (2015) |
| 32 | Minor | Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis... | Shin S , et al. (2015) |
| 33 | Minor | Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications. | Oikonomakis V , et al. (2016) |
| 34 | Minor | Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. | Yin CL , et al. (2016) |
| 35 | Minor | Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions. | Tropeano M , et al. (2016) |
| 36 | Major | Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. | Fry AE , et al. (2016) |
| 37 | 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) |
| 38 | Minor | Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong. | Siu WK , et al. (2016) |
| 39 | Minor | Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. | Leppa VM , et al. (2016) |
| 40 | Major | Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. | Wolfe K , et al. (2016) |
| 41 | Major | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) |
| 42 | 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) |
| 43 | Minor | Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10. | Mak ASL , et al. (2017) |
| 44 | Minor | Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder. | Hnoonual A , et al. (2017) |
| 45 | Major | Paternally inherited cis-regulatory structural variants are associated with autism. | Brandler WM , et al. (2018) |
| 46 | Minor | Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. | Kushima I , et al. (2018) |
| 47 | Minor | Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder | Fan Y et al. (2018) |
| 48 | Major | Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder. | Munnich A , et al. (2019) |
| 49 | Minor | Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes | Feliciano P et al. (2019) |
| 50 | Major | Autism risk in offspring can be assessed through quantification of male sperm mosaicism. | Breuss MW , et al. (2019) |
| 51 | Major | Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use. | Husson T , et al. (2020) |
| 52 | Minor | Comorbidities associated with genetic abnormalities in children with intellectual disability | Chen JS et al. (2021) |
| 53 | Minor | Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder | Mahjani B et al. (2021) |
| 54 | Minor | Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center | Du X et al. (2021) |
| 55 | Minor | Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean | Verberne EA et al. (2022) |
| 56 | Major | Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder | Kushima I et al. (2022) |
| 57 | Major | - | Miyake N et al. (2023) |
| 58 | Major | - | Zhang Y et al. (2023) |
| 59 | Minor | - | Tuncay IO et al. (2023) |
Show all Case Details
Show all Cohort Details
16p13.11
Description:
102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
Diagnosis:
Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
Bartnik M , et al. (2012)Cohort Size: 102
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 790000
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
Software: BCM web-based software, IMiD-web2py
Algorithm: -
Geographical Ancestry: Poland
16p13.11
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: 42
Age Max: 103
Average: 72.5
Male: 50
Female: 50
Unknown: -
CNV Size: 1300000
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
aCGH, array SNP
Validation Method:
FISH, qPCR
Platform: BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Italy
16p13.11
Description:
Cases (children referred to Guy's and St. Thomas NHS Foundation Trust, southeastern UK from pediatricians and regional hospital) from Brain and Body Genetics Research Exchange (BBGRE)
Diagnosis:
Developmental delay, ASD, speech or language delay or congenital defects
Addis L , et al. (2015)Cohort Size: 4092
Age Min: 144
Age Max: 144
Average: 144
Male: -
Female: 100
Unknown: -
CNV Size: 1256986
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 60K
Software: -
Algorithm: -
Geographical Ancestry: United Kingdom
16p13.11
Description:
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
Diagnosis:
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
Brandler WM , et al. (2018)Cohort Size: 880
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 913100
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
PCR, array SNP
Platform: Illumina HiSeq X10 or HiSeq 2500
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A
16p13.11
Description:
ASD probands from the REACH cohort and from a cohort of ASD probands with an additional diagnosis of epilepsy (NYU Medical School)
Diagnosis:
Diagnosis of ASD (autism was assessed by a clinical psychologist using the Autism Diagnostic Interview-Revised, the Autism Diagnostic Observation Schedule and the Childhood Autism Rating Scale).
Breuss MW , et al. (2019)Cohort Size: 20
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 913100
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
PCR, ddPCR
Platform: Illumina HiSeq
Software: SAMtools v.1.2, GATK v.3.3, Picard Tools v.1.129
Algorithm: ForestSV, Lumpy, Mobster
Geographical Ancestry: N/A
16p13.11
Description:
Individuals with PTCHD1 deletions (Xp22.11 locus) not previously published
Diagnosis:
Most common diagnoses: ASD or autistic features, developmental delay (DD), and intellectual disability (ID)
Chaudhry A , et al. (2014)Cohort Size: 11
Age Min: 120
Age Max: 120
Average: 120
Male: 100
Female: -
Unknown: -
CNV Size: 1100000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix CytoScan HD
Software: -
Algorithm: -
Geographical Ancestry: Predominantly Caucasian
16p13.11
Description:
Consecutive patients enrolled at National Cheng Kung University Hospital (Tainan, Taiwan) from Feb 2018 to Dec 2019
Diagnosis:
Cases presented with moderate or severe developmental delay/intellectual disability (DD/ID); autism spectrum disorder (ASD) was diagnosed in 15 cases (24.6%) based on DSM-V criteria.
Chen JS et al. (2021)Cohort Size: 61
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1157300
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
CMA
Validation Method:
None
Platform: CytoOne Array (Phalanx Biotech)
Software: MATLAB v.R2009a
Algorithm: CBS
Geographical Ancestry: Taiwan
16p13.11
Description:
Individuals from 21 families containing 17p13.3 duplications with primary clinical diagnosis (out of 34 individuals), ascertained personally or by query of Signature Genomics, GeneDX, and DECIPHER databases
Diagnosis:
Common diagnoses/phenotypic feaures included developmental delay/intellectual disability, ASD, MCA, and dysmorphic features
Curry CJ , et al. (2013)Cohort Size: 30
Age Min: 4
Age Max: 4
Average: 4
Male: 100
Female: -
Unknown: -
CNV Size: 1240000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent SignatureChip OS (105K or 135K), 244K, 660K-Quad, or 105K; Oxford Gene Technology (OGT) 105K; Genome Dx 105K; Signature Genomics Laboratories BAC; Genzyme Clarisure; UNC SGLSelect 105K
Software: -
Algorithm: -
Geographical Ancestry: 80% Caucasian
16p13.11
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: 790000
Deletion: 36
Duplication: 68
Total CNV: 104
Discovery Method:
aCGH
Validation Method:
None
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A
16p13.11
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: 1536280
Deletion: 6
Duplication: 12
Total CNV: 18
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
16p13.11
Description:
Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
Diagnosis:
Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
Du X et al. (2021)Cohort Size: 511
Age Min: 48
Age Max: 48
Average: 48
Male: -
Female: 100
Unknown: -
CNV Size: 1323126
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina CytoSNP-850Kv1.2 BeadChip
Software: Illumina Genome Studio V2009.2
Algorithm: NA
Geographical Ancestry: United States
16p13.11
Description:
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
Diagnosis:
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Deciphering Developmental Disorders Study (2014)Cohort Size: 1133
Age Min: -
Age Max: -
Average: -
Male: 33
Female: 33
Unknown: 33
CNV Size: 1755770
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
aCGH, WES
Validation Method:
None
Platform: Agilent 2x1M, Agilent Exome+
Software: Cnsolidate, CoNVex
Algorithm: -
Geographical Ancestry: UK and Ireland
16p13.11
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: 240
Age Max: 240
Average: 240
Male: 100
Female: -
Unknown: -
CNV Size: 750000
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
16p13.11
Description:
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
Diagnosis:
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Fan Y et al. (2018)Cohort Size: 401
Age Min: 107
Age Max: 107
Average: 107
Male: 100
Female: -
Unknown: -
CNV Size: 845000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix CytoScan HD
Software: ChAS
Algorithm: -
Geographical Ancestry: Chinese
16p13.11
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: 11307
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WES
Validation Method:
None
Platform: Illumina HumanCoreExome 550K
Software: CoNIFER, XHMM
Algorithm: -
Geographical Ancestry: N/A
16p13.11
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: 12
Age Max: 168
Average: 106.2
Male: 2
Female: 1
Unknown: 97
CNV Size: 790000
Deletion: 45
Duplication: 98
Total CNV: 143
Discovery Method:
aCGH
Validation Method:
FISH, aCGH, or confirmation by inheritance
Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -
16p13.11
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: 1650001
Deletion: 4
Duplication: 4
Total CNV: 8
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
16p13.11
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: 57479
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
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
16p13.11
Description:
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
Diagnosis:
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Hnoonual A , et al. (2017)Cohort Size: 114
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1500000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Infinium CytoSNP-850K v1.1 BeadChip
Software: BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
Algorithm: -
Geographical Ancestry: Thai
16p13.11
Description:
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
Diagnosis:
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
Husson T , et al. (2020)Cohort Size: 253
Age Min: 60
Age Max: 132
Average: 96
Male: -
Female: 100
Unknown: -
CNV Size: 1298369
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
WES
Validation Method:
ddPCR, QMPSF, aCGH
Platform: Illumina HiSeq4000
Software: CANOES
Algorithm: -
Geographical Ancestry: France
16p13.11
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: 1817216
Deletion: 14
Duplication: 26
Total CNV: 40
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
16p13.11
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: 40
Female: 60
Unknown: -
CNV Size: 13107
Deletion: 1
Duplication: 1
Total CNV: 2
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
16p13.11
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: 63
Female: 38
Unknown: -
CNV Size: 1459893
Deletion: 3
Duplication: 8
Total CNV: 11
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
16p13.11
Description:
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
Diagnosis:
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
Leblond CS , et al. (2012)Cohort Size: 2
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 13781
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina 1M SNP array
Software: -
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: 1 Canadian, 1 French
16p13.11
Description:
Individuals predominantly recruited from the middle of Honshu Island (Japan)
Diagnosis:
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Kushima I , et al. (2018)Cohort Size: 1108
Age Min: 228
Age Max: 552
Average: 386.4
Male: 50
Female: 50
Unknown: -
CNV Size: 822731
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
N/A
Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese
16p13.11
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: 228
Age Max: 552
Average: 386.4
Male: 50
Female: 50
Unknown: -
CNV Size: 1635275
Deletion: 2
Duplication: 3
Total CNV: 5
Discovery Method:
aCGH
Validation Method:
N/A
Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese
16p13.11
Description:
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
Diagnosis:
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 1205
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1167451
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
16p13.11
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: 1386113
Deletion: 0
Duplication: 4
Total CNV: 4
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
16p13.11
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: 1635276
Deletion: 2
Duplication: 4
Total CNV: 6
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
16p13.11
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: 86
Female: 14
Unknown: -
CNV Size: 995291
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
-
Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -
16p13.11
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: 60
Age Max: 60
Average: 60
Male: 100
Female: -
Unknown: -
CNV Size: 577852
Deletion: 0
Duplication: 1
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
16p13.11
Description:
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
Diagnosis:
Diagnosis according to ADOS and ADI-R
Leppa VM , et al. (2016)Cohort Size: 1764
Age Min: -
Age Max: -
Average: -
Male: 82
Female: 18
Unknown: -
CNV Size: 2800000
Deletion: 4
Duplication: 5
Total CNV: 9
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
Software: GenomeStudio, CNVision
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: N/A
16p13.11
Description:
Chinese patients diagnosed with ASD recruited from a child assessment center (Department of Pediatrics and Adolescent Medicine, the University of Hong Kong) between January 2011 and August 2014.
Diagnosis:
Diagnosis of ASD made using DSM-IV-TR or DSM-V; tools such as CARS, CHAT-23 modified, ADI-R, or ADOS were used in difficult cases
Mak ASL , et al. (2017)Cohort Size: 258
Age Min: 23
Age Max: 204
Average: 113.5
Male: 100
Female: -
Unknown: -
CNV Size: 1160000
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: NimbleGen CGX-135K or Agilent-CGX 60K
Software: -
Algorithm: -
Geographical Ancestry: Chinese
16p13.11
Description:
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
Diagnosis:
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Mahjani B et al. (2021)Cohort Size: 996
Age Min: -
Age Max: -
Average: -
Male: 67
Female: 33
Unknown: -
CNV Size: 1387949
Deletion: 1
Duplication: 2
Total CNV: 3
Discovery Method:
WES
Validation Method:
None
Platform: Infinium OmniExpress Exome
Software: NA
Algorithm: PennCNV
Geographical Ancestry: Sweden
16p13.11
Description:
SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
Diagnosis:
Diagnosis of schizophrenia based on meeting DSM-IV citeria
Mulle JG , et al. (2013)Cohort Size: 554
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1304875
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
Solid phase hybridization
Platform: Affymetrix 6.0
Software: Affymetrix power tools software v1.12.0
Algorithm: GLAD, GADA, BEAST
Geographical Ancestry: Ashkenazi Jewish
16p13.11
Description:
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
Diagnosis:
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
Munnich A , et al. (2019)Cohort Size: 502
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1200000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH, karyotyping
Validation Method:
FISH
Platform: Agilent 60K
Software: -
Algorithm: -
Geographical Ancestry: France
16p13.11
Description:
Cohort of ASD probands consisting of 351 trios, 24 quads, and two quintets included in a multi-center cohort.
Diagnosis:
Cases were clinically diagnosed with ASD based on DSM-V.
Miyake N et al. (2023)Cohort Size: 405
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 415489
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Exome sequencing
Validation Method:
qPCR
Platform: Illumina HiSeq 2000/2500
Software: XHMM
Algorithm: NA
Geographical Ancestry: Japan
16p13.11
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: 100
Female: -
Unknown: -
CNV Size: 2620459
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
N/A
Platform: SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
Software: -
Algorithm: -
Geographical Ancestry: N/A
16p13.11
Description:
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
Diagnosis:
Cases assessed for ASD according to DSM-IV behavioral criteria
Oikonomakis V , et al. (2016)Cohort Size: 195
Age Min: 144
Age Max: 144
Average: 144
Male: 100
Female: -
Unknown: -
CNV Size: 447700
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
Software: -
Algorithm: -
Geographical Ancestry: Greece
16p13.11
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: 100
Female: -
Unknown: -
CNV Size: 883361
Deletion: 0
Duplication: 1
Total CNV: 1
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
16p13.11
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: 24
Age Max: 110
Average: 76.666666666667
Male: 100
Female: -
Unknown: -
CNV Size: 1406982
Deletion: 2
Duplication: 4
Total CNV: 6
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
16p13.11
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: 57
Female: 43
Unknown: -
CNV Size: 1435673
Deletion: 4
Duplication: 2
Total CNV: 6
Discovery Method:
WES
Validation Method:
None
Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European
16p13.11
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: 396587
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
FISH
Platform: BACs aCGH, whole-genome oligo-aCGH
Software: -
Algorithm: -
Geographical Ancestry: -
16p13.11
Description:
Consecutive pediatric patients evaluated at Children's Mercy Hospitals & Clinics, Kansas City, MO.
Diagnosis:
Patients diagnosed with one or more of the following: developmental delay (DD), autism (ASD), seizure, dysmorphic features, or multiple congenital anomalies
Ramalingam A , et al. (2011)Cohort Size: 1645
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1560000
Deletion: 6
Duplication: 3
Total CNV: 9
Discovery Method:
aCGH
Validation Method:
qPCR
Platform: Agilent 244K
Software: Agilent CGH Analytics 3.2.5
Algorithm: ADM-2
Geographical Ancestry: -
16p13.11
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: 837759
Deletion: 2
Duplication: 2
Total CNV: 4
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian
16p13.11
Description:
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
Diagnosis:
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
Reinthaler EM , et al. (2014)Cohort Size: 281
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1600000
Deletion: 0
Duplication: 0
Total CNV: 0
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina HumanOmniExpress BeadChip
Software: Illumina Genome Viewer
Algorithm: PennCNV
Geographical Ancestry: Caucasian
16p13.11
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: 69
Female: 31
Unknown: -
CNV Size: 1018022
Deletion: 10
Duplication: 13
Total CNV: 23
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&
16p13.11
Description:
Father and son from a three-generation Chinese family with ASD and language delay.
Diagnosis:
Diagnosis of ASD based upon DSM-IV criteria.
Shen Y , et al. (2011)Cohort Size: 2
Age Min: 144
Age Max: 492
Average: 318
Male: 100
Female: -
Unknown: -
CNV Size: 32678
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
-
Platform: Agilent 244K
Software: DNA Analytics
Algorithm: -
Geographical Ancestry: Chinese
16p13.11
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: 24
Age Max: 24
Average: 24
Male: 100
Female: -
Unknown: -
CNV Size: 1047000
Deletion: 0
Duplication: 1
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
16p13.11
Description:
41 adult ASD cases (39 males, 2 females, age range of 22-33 years, median age of 27 years) recruited from a cohort of a local study on the adult outcome of children with autism with normal intelligence, and 27 pediatric ASD cases (21 males, 6 females, age range of 2-15 years, median age of 5 years) assessed in the Department of Paediatrics and Adolescent Medicine of Princess Margaret Hospital or T
Diagnosis:
Diagnosis of ASD in cases from the adult cohort was made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and was confirmed with the developmental, dimensional and diagnostic interview during adulthood; diangosis of ASD in cases from the pediatric cohort was confirmed using ADI-R. IQ of cases in the adult cohort was assessed by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version. Developmental delay reported in 13/27 (52.0%) of cases in the pediatric cohort.
Siu WK , et al. (2016)Cohort Size: 68
Age Min: -
Age Max: -
Average: -
Male: 75
Female: 25
Unknown: -
CNV Size: 1160000
Deletion: 0
Duplication: 4
Total CNV: 4
Discovery Method:
aCGH
Validation Method:
None
Platform: NimbleGen CGX-135K
Software: DEVA, Genoglyphix
Algorithm: -
Geographical Ancestry: Hong Kong
16p13.11
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: 60
Age Max: 60
Average: 60
Male: -
Female: 100
Unknown: -
CNV Size: 1676000
Deletion: 0
Duplication: 1
Total CNV: 1
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
16p13.11
Description:
Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).
Diagnosis:
Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.
Tropeano M , et al. (2013)Cohort Size: 10397
Age Min: 2
Age Max: 576
Average: 122.4347826087
Male: 59
Female: 41
Unknown: -
CNV Size: 1366511
Deletion: 11
Duplication: 16
Total CNV: 27
Discovery Method:
aCGH
Validation Method:
aCGH, MLPA
Platform: Agilent 60K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: 70% Caucasian, 15% African, 15% other/mixed ancestry
16p13.11
Description:
Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)
Diagnosis:
Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.
Tropeano M , et al. (2016)Cohort Size: 18857
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1305048
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 60K, OGT Cytosure 4x180K
Software: Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
Algorithm: ADM-2
Geographical Ancestry: United Kingdom and Canada
16p13.11
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: 34503
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
WGS
Validation Method:
None
Platform: Illumina NovaSeq 6000
Software: CNVkit, GISTIC2.0.
Algorithm: NA
Geographical Ancestry: East Africa (Ethiopia, Eritrea, Kenya)
16p13.11
Description:
Australian autism discovery cohort screened by aCGH
Diagnosis:
Autism, diagnosis based on fulfillment of DSM-IV-TR criteria
Ullmann R , et al. (2007)Cohort Size: 70
Age Min: 42
Age Max: 228
Average: 135.6
Male: 83
Female: 17
Unknown: -
CNV Size: 1500000
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
qPCR
Platform: BACs aCGH
Software: CGHPRO
Algorithm: -
Geographical Ancestry: Australian
16p13.11
Description:
Australian autism replication cohort screened by qPCR for 16p13.11 CNVs
Diagnosis:
Autism, diagnosis based on fulfillment of DSM-IV-TR criteria
Ullmann R , et al. (2007)Cohort Size: 112
Age Min: 42
Age Max: 228
Average: 135.6
Male: 83
Female: 17
Unknown: -
CNV Size: 1500000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
qPCR
Validation Method:
aCGH
Platform: -
Software: -
Algorithm: -
Geographical Ancestry: Australian
16p13.11
Description:
Patients with mental retardation in a Danish cohort, which were previously used in a Kirchhoff et al. 2005 CNV study.
Diagnosis:
Mental retardation (MR)
Ullmann R , et al. (2007)Cohort Size: 95
Age Min: 42
Age Max: 228
Average: 135.6
Male: 83
Female: 17
Unknown: -
CNV Size: 1500000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
qPCR
Platform: BACs aCGH
Software: CGHPRO
Algorithm: -
Geographical Ancestry: Danish
16p13.11
Description:
Patient with mental retardation, born to non-consanguineous parents, that was previously reported in a Rosenberg et al. 2006 aCGH study.
Diagnosis:
Mental retardation (MR)
Ullmann R , et al. (2007)Cohort Size: 1
Age Min: 42
Age Max: 228
Average: 135.6
Male: 83
Female: 17
Unknown: -
CNV Size: 1500000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
FISH, aCGH, qPCR
Platform: BACs aCGH
Software: CGHPRO
Algorithm: -
Geographical Ancestry: Brazilian
16p13.11
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: 1164000
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
16p13.11
Description:
ASD patients from 132 simplex and 13 multiplex families of Polish descent
Diagnosis:
Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
Winiowiecka-Kowalnik B , et al. (2012)Cohort Size: 145
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1200000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
FISH
Platform: OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
Software: BCM web-based software, custom-designed IMiD-web2py software
Algorithm: -
Geographical Ancestry: Polish
16p13.11
Description:
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
Diagnosis:
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Wolfe K , et al. (2016)Cohort Size: 202
Age Min: 540
Age Max: 540
Average: 540
Male: -
Female: 100
Unknown: -
CNV Size: 1724212
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
qPCR, FISH, QF-PCR
Platform: Nimblegen 135K
Software: -
Algorithm: -
Geographical Ancestry: 74% White British
16p13.11
Description:
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
Diagnosis:
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Verberne EA et al. (2022)Cohort Size: 331
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1271854
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
CMA
Validation Method:
None
Platform: NA
Software: NA
Algorithm: NA
Geographical Ancestry: Dutch Caribbean
16p13.11
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: 40237
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese
16p13.11
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: 2
Duplication: 0
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
16p13.11
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: 1891999
Deletion: 3
Duplication: 12
Total CNV: 15
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
16p13.11
Description:
Patients diagnosed with ASD from the the Department of Psychiatry, Beijing Children's Hospital, from July 2019 to May 2021.
Diagnosis:
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria; the two most common features of ASD cases in this cohort were intellectual disability and language delay.
Zhang Y et al. (2023)Cohort Size: 354
Age Min: 24
Age Max: 24
Average: 24
Male: 100
Female: -
Unknown: -
CNV Size: 1590616
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
WGS
Validation Method:
qPCR
Platform: Illumina Novaseq
Software: CNVnator (v.1.2.2), BIC-Seq (v.0.7.2)
Algorithm: NA
Geographical Ancestry: China
Show all Case Details
Show all Cohort Details
addis_15_ASD/DD/ID_discovery_cases-BBGRE112031
Primary Diagnosis: Developmental delay
Age: 12 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14954893
CNV End: 16211879
CNV Size: 1256987
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
bartnik_12_EP_discovery_cases-case21
Clinical Profile:
Age of onset of epilepsy: 9 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy (JME). Parental phenotype: mother normal; father and brother have epilepsy.
Cognitive Profile:
Normal IQ
Bartnik M , et al. (2012)Primary Diagnosis: Epilepsy
Age: NA
Gender: F
Primary Disorder Inheritence: Paternal
Family Profile: Multiplex
CNV Start: 15823243
CNV End: 16198337
CNV Size: 375095
Validation Description: -
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU6-213P, RPL15P20, RPL17P40, FOPNL, ABCC6, ABCC1, MYH11
bartnik_12_EP_discovery_cases-case22
Clinical Profile:
Age of onset of epilepsy: 16 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy (JME). Parental phenotype: unknown.
Cognitive Profile:
Normal IQ
Bartnik M , et al. (2012)Primary Diagnosis: Epilepsy
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15424607
CNV End: 16214290
CNV Size: 789684
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
battaglia_13_DD/ID/ASD_discovery_cases-case35
Clinical Profile:
Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes. Carries premutation allele at the FRAXA locus (61-62 triplets).
Cognitive Profile:
Borderline DD/ID
Battaglia A , et al. (2013)Primary Diagnosis: Autism and borderline DD/ID
Age: 3 yrs. 6 mos.
Gender: F
Primary Disorder Inheritence: Paternal
Family Profile: Possible multi-generational
CNV Start: 14954894
CNV End: 16155750
CNV Size: 1200857
Validation Description: FISH or qPCR
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Possible multi-generational
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
battaglia_13_DD/ID/ASD_discovery_cases-case43
Clinical Profile:
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Cognitive Profile:
Moderate DD/ID
Battaglia A , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: 8 yrs. 7 mos.
Gender: M
Primary Disorder Inheritence: Paternal
Family Profile: Possible multi-generational
CNV Start: 14850703
CNV End: 16155750
CNV Size: 1305048
Validation Description: FISH or qPCR
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Possible multi-generational
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
chaudhry_14_ASD/DD/ID_discovery_cases-caseL1
Clinical Profile:
Psychiatric/behavioral disorders: ASD, mood swings, aggressive behaviors, impulsivity. Neurological features: hypotonic face, intention tremor. Dysmorphic features: prominent ears with simple and superior helices, deep set eyes, prominent upper central incisors, pointed chin, bilateral 5th finger clinodactyly. Growth abnormalities: relative microcephaly (head circumference 10th %ile).
Cognitive Profile:
Developmental/cognitive functioning: global developmental delay; mild intellectual disability (IQ 60-70).
Chaudhry A , et al. (2014)Primary Diagnosis: ASD, developmental delay, and ID
Age: 10 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15323173
CNV End: 16435944
CNV Size: 1112772
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
coe_14_ASD/DD/ID_discovery_cases-case100
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case101
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case102
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case103
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case104
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case105
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case106
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case107
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case108
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case109
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case110
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case111
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case112
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case113
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case114
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case115
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case116
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case117
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case118
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case119
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case120
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case121
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case122
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case123
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case124
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case125
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case126
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case127
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case128
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case129
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case130
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case131
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case132
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case133
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case134
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case135
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case136
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case137
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case138
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case139
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case140
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case141
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case142
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case143
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case144
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case145
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case146
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case147
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case148
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case149
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case150
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case151
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case152
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case153
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case154
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case155
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case156
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case157
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case158
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case159
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case160
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case161
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case162
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case163
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case164
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case165
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case166
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case167
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case168
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case169
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case170
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case171
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case172
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case173
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case174
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case175
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case176
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case177
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case178
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case179
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case180
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case181
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case182
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case183
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case184
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case185
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case186
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case187
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case188
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case189
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case190
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case191
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case192
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case193
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case194
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case195
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case196
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case197
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case198
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case199
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case200
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case201
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case98
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case99
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
curry_13_DD/ID/ASD_discovery_cases-patient17a1
Clinical Profile:
Presentation: failure-to-thrive, hiatal hernia. Developmental and neurological features: hypotonia. Brain imaging abnormalities: thin corpus callosum consistent with mild partial agenesis, ventriculomegaly, probable or mild cerebellar vermis hypoplasia, cerebellar tonsilar ectopia with Chiari 1 malformation, subtle basi-occipital changes. Rare phenotypes and other health problems: Marfanoid habitus, hiatal hernia, umbilical hernia, Morgagni hernia, ventricular septal defect, hemivertebrae, gastroesophageal reflux, GT, recurrent bilateral otitis media. Growth parameters: birth weight >90th %ile; weight 50th %ile, height 14th %ile, OFC 25th %ile. Ethnicity: Caucasian.
Cognitive Profile:
Mild ID
Curry CJ , et al. (2013)Primary Diagnosis: ID
Age: 4 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14955942
CNV End: 16194046
CNV Size: 1238105
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
engchuan_15_ASD_discovery_cases-case14142_2400
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: 14829807
CNV End: 15154226
CNV Size: 324420
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA1, PDXDC1, RRN3
engchuan_15_ASD_discovery_cases-case14142_2400
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: 15386022
CNV End: 16254748
CNV Size: 868727
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
engchuan_15_ASD_discovery_cases-case14224_3580
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: 15351371
CNV End: 15525217
CNV Size: 173847
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NPIPA5, MPV17L, C16orf45
engchuan_15_ASD_discovery_cases-case14283_4060
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: 14769675
CNV End: 16305955
CNV Size: 1536281
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
engchuan_15_ASD_discovery_cases-case14380_4930
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: 16504220
CNV End: 16744832
CNV Size: 240613
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case14412_5210
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: 14958889
CNV End: 16305955
CNV Size: 1347067
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
engchuan_15_ASD_discovery_cases-case20070_1331001
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: 14807513
CNV End: 15933867
CNV Size: 1126355
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, MYH11
engchuan_15_ASD_discovery_cases-case20070_1331001
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: 16126269
CNV End: 16161383
CNV Size: 35115
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, ABCC1
engchuan_15_ASD_discovery_cases-case20070_1331001
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: 16168715
CNV End: 16209531
CNV Size: 40817
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case20070_1331001
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: 16000744
CNV End: 16068182
CNV Size: 67439
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case21015_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: 16526470
CNV End: 16707209
CNV Size: 180740
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case3310_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: 14769675
CNV End: 15368440
CNV Size: 598766
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, NPIPA1, PDXDC1, RRN3
engchuan_15_ASD_discovery_cases-case3441_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: 14807513
CNV End: 16214494
CNV Size: 1406982
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
engchuan_15_ASD_discovery_cases-case3613_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: 15022299
CNV End: 15079148
CNV Size: 56850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1, RRN3
engchuan_15_ASD_discovery_cases-case4182_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: 15386022
CNV End: 16198126
CNV Size: 812105
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
engchuan_15_ASD_discovery_cases-case5074_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: 16490462
CNV End: 16707209
CNV Size: 216748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case5258_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: 15386022
CNV End: 16269382
CNV Size: 883361
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
engchuan_15_ASD_discovery_cases-case5298_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: 16223780
CNV End: 16725420
CNV Size: 501641
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, PKD1P1, NOMO3, NPIPA7
fitzgerald_14_ASD/DD/ID_discovery_cases-case000009
Clinical Profile:
Clinical profile N/A; CNV from Supplementary Table S13
Cognitive Profile:
N/A
Deciphering Developmental Disorders Study (2014)Primary Diagnosis: N/A
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15017383
CNV End: 15094128
CNV Size: 76746
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1, RRN3
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260060
Clinical Profile:
Polydactyly (feet); Cerebellar hypoplasia; Feeding difficulties in infancy; Abnormality of the nervous system; Enlarged cisterna magna; Global developmental delay; Dandy-Walker malformation; Neonatal alloimmune thrombocytopenia; Abnormality of the penis; Abnormality of the tongue; Upslanted palpebral fissure; Epicanthus; Abnormality of the lip; Abnormality of the ear; Abnormality of the umbilicus; Abnormality of eye movement
Cognitive Profile:
-
Deciphering Developmental Disorders Study (2014)Primary Diagnosis: Developmental delay
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15400847
CNV End: 16294603
CNV Size: 893757
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260710
Clinical Profile:
Intrauterine growth retardation; Short stature; Clubbing; Feeding difficulties in infancy; IgA deficiency; Microcephaly
Cognitive Profile:
-
Deciphering Developmental Disorders Study (2014)Primary Diagnosis: Microcephaly and dysmorphic features
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14711524
CNV End: 16467294
CNV Size: 1755771
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPA3, NPIPA2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
fry_16_DD/ID/EP/ASD_discovery_cases-caseR913
Clinical Profile:
Clinical features: moderate-to-severe intellectual disability, ASD, challenging behavior (history of aggressive episodes). Age of seizure onset: 10 months. Epilepsy syndrome: focal epilepsy. Seizure types: febrile seizures, focal dyscognitive seizures, evolution to bilateral or convulsive seizures. Family history: family history of childhood epilepsy in the case's mother and a maternal uncle (untested).
Cognitive Profile:
Moderate-to-severe intellectual disability
Fry AE , et al. (2016)Primary Diagnosis: ASD, intellectual disability and epilepsy
Age: 20 yrs.
Gender: M
Primary Disorder Inheritence: Possibly maternal
Family Profile: -
CNV Start: 15418717
CNV End: 16168714
CNV Size: 749998
Validation Description: Solid phase hybridization (Illumina)
Primary Disorder Inheritence: Possibly maternal
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0852
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0853
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0854
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0855
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0856
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0857
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0858
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0859
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0860
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0861
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0862
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0863
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0864
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0865
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0866
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0867
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0868
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0869
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0870
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0871
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0872
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0873
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0874
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0875
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0876
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0877
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0878
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0879
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0880
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0881
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0882
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0883
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0884
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0885
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0886
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0887
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0888
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0889
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0890
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0891
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0892
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0893
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0894
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0895
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0896
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0897
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0898
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0899
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0900
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0901
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0902
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0903
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0904
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0905
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0906
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0907
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0908
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0909
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0910
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0911
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0912
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0913
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0914
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0915
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0916
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0917
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0918
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0919
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0920
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0921
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0922
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0923
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0924
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0925
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0926
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0927
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0928
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0929
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0930
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0931
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0932
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0933
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0934
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0935
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0936
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0937
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0938
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0939
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0940
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0941
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0942
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0943
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0944
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0945
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0946
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0947
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0948
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0949
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0950
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0951
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0952
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0953
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0954
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0955
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0956
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0957
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0958
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0959
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0960
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0961
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0962
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0963
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0964
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0965
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0966
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0967
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0968
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0969
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0970
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0971
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0972
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0973
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0974
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0975
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0976
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0977
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0978
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0979
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0980
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0981
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0982
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0983
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0984
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0985
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0986
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0987
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case0988
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case14963
Clinical Profile:
Kyphosis. Congenital anomalies: 2 small ventricular septal defects and mild enlargement of aorta; bilateral Morgagni hernias; hiatal hernia; T12 hemivertebra. All other measures not specified.
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: Cardiac defects
Age: 13 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case29386
Clinical Profile:
Family history: father had developmental delay and learning disability; mother has dyslexia and memory problems, but was cognitively normal. All other measure not specified.
Cognitive Profile:
Developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 1 yr.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case40354
Clinical Profile:
Decreased speech. Behavioral problems: stereotypies, usually quiet and shy but sometimes overly friendly, noise aversion. Normal tone. Normal MRI. Dysmorphic features: low anterior hairline, short philtrum, full lips, skin tags on neck, spots on tongue. Congenital anomalies: radioulnar synostosis; PIP finger camptodactyly. Growth parameters: small for gestational age; weight >95th %ile, height 10th-25th %ile, OFC +1.6 SD. Family history: healthy mother.
Cognitive Profile:
Moderate ID; developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Intellectual disability
Age: 14 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case44153
Clinical Profile:
Behavioral problems: tantrums, self-pinching. Normal tone. Dysmorphic features: tall forehead, ptosis, downturned mouth, retrognathia, long neck. Congenital anomalies: mild scoliosis. Growth parameters: weight 50th-75th %ile, height >97th %ile, OFC unknown. Family history: half-brothers with learning disability or schizophrenia.
Cognitive Profile:
Mild developmental delay and learning disability
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 14 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case52716
Clinical Profile:
Dysmorphic features, speech delay, small stature. Normal tone. Dysmorphic features: low-set ears, short neck, small nose, upslanting palpebral fissures, shallow nasal bridge, small mouth, micrognathia. Congenital anomalies: blocked lacrimal ducts. Other features: strabismus, chronic lung disease (prematurity). Growth parameters: height, weight, and OFC <3rd %ile. Family history: mother has bicornate uterus.
Cognitive Profile:
Global developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 2 yrs. 3 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_cases-case68390
Clinical Profile:
ADHD, seizures, mild dysmorphic features
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: ADHD and epilepsy
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_13a_ASD_discovery_cases-11450.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_cases-11511.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_cases-12861.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_cases-13215.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15474885
CNV End: 15514516
CNV Size: 39632
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-13534.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_cases-14165.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_cases-14169.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_cases-AU1039302
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13b_ASD_discovery_cases-32809111709
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15033306
CNV End: 15090785
CNV Size: 57480
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1, RRN3
hnoonual_17_ASD_discovery_cases-caseTM50-3
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15036113
CNV End: 16539504
CNV Size: 1503392
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000203
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14874998
CNV End: 16034020
CNV Size: 1159023
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000602
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15457445
CNV End: 16100721
CNV Size: 643277
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NDE1, FOPNL, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000799
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14954894
CNV End: 16100721
CNV Size: 1145828
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000864
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816348
CNV End: 16431491
CNV Size: 1615144
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000882
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14874998
CNV End: 16100721
CNV Size: 1225724
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000971
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816348
CNV End: 16100721
CNV Size: 1284374
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001106
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14874998
CNV End: 16100721
CNV Size: 1225724
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001137
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14874998
CNV End: 16100721
CNV Size: 1225724
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001152
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15457445
CNV End: 16100721
CNV Size: 643277
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NDE1, FOPNL, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001216
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14954894
CNV End: 16100721
CNV Size: 1145828
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001839
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14717194
CNV End: 16450842
CNV Size: 1733649
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPA3, NPIPA2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001898
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14717194
CNV End: 16508540
CNV Size: 1791347
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPA3, NPIPA2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001945
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14907656
CNV End: 16206199
CNV Size: 1298544
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002009
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14907656
CNV End: 16281234
CNV Size: 1373579
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002172
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15187330
CNV End: 16281234
CNV Size: 1093905
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002233
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14823949
CNV End: 16281234
CNV Size: 1457286
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002327
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14823949
CNV End: 16281234
CNV Size: 1457286
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002470
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14823949
CNV End: 16281234
CNV Size: 1457286
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002536
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816348
CNV End: 16431491
CNV Size: 1615144
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002729
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816348
CNV End: 16148900
CNV Size: 1332553
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003818
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14850703
CNV End: 16211879
CNV Size: 1361177
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003854
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14874998
CNV End: 16100721
CNV Size: 1225724
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003908
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816348
CNV End: 16431491
CNV Size: 1615144
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003909
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816148
CNV End: 16100862
CNV Size: 1284715
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003985
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816348
CNV End: 16633564
CNV Size: 1817217
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004046
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816148
CNV End: 16431632
CNV Size: 1615485
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004109
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816348
CNV End: 15055158
CNV Size: 238811
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, NOMO1, NTAN1, NPIPA1, PDXDC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004109
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15457445
CNV End: 16100721
CNV Size: 643277
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NDE1, FOPNL, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004377
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14954894
CNV End: 16100721
CNV Size: 1145828
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004421
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15434653
CNV End: 16281234
CNV Size: 846582
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004474
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816348
CNV End: 16580464
CNV Size: 1764117
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004504
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14954894
CNV End: 16100721
CNV Size: 1145828
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004582
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14874798
CNV End: 16100862
CNV Size: 1226065
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004591
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816348
CNV End: 16100721
CNV Size: 1284374
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004608
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14954694
CNV End: 16100862
CNV Size: 1146169
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004815
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816348
CNV End: 16100721
CNV Size: 1284374
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004955
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14874998
CNV End: 16100721
CNV Size: 1225724
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005031
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816148
CNV End: 16431632
CNV Size: 1615485
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005156
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14816348
CNV End: 16431491
CNV Size: 1615144
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005409
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15457445
CNV End: 16100721
CNV Size: 643277
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NDE1, FOPNL, C16orf45, MARF1, ABCC1, MYH11
krumm_13_ASD_discovery_cases-case13125.p1
Clinical Profile:
ASD proband from SSC quad family 13125. SRS score of 86.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 97.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15031734
CNV End: 15041676
CNV Size: 9943
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1
krumm_13_ASD_discovery_cases-case13215.p1
Clinical Profile:
ASD proband from SSC quad family 13215. SRS score of 90.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 74.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15502321
CNV End: 15515428
CNV Size: 13108
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case11450.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14833851
CNV End: 16287862
CNV Size: 1454012
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
krumm_15_ASD_discovery_cases-case11511.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15407823
CNV End: 16287862
CNV Size: 880040
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
krumm_15_ASD_discovery_cases-case11918.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15884007
CNV End: 15888585
CNV Size: 4579
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case12261.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15879803
CNV End: 15888585
CNV Size: 8783
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case12602.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 16124788
CNV End: 16232831
CNV Size: 108044
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABCC6, ABCC1, NOMO3
krumm_15_ASD_discovery_cases-case12622.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 16154872
CNV End: 16165933
CNV Size: 11062
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case12944.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15028877
CNV End: 16192922
CNV Size: 1164046
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
krumm_15_ASD_discovery_cases-case13125.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15031734
CNV End: 15041676
CNV Size: 9943
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1
krumm_15_ASD_discovery_cases-case13721.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 16154627
CNV End: 16165933
CNV Size: 11307
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case14165.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14833851
CNV End: 16293744
CNV Size: 1459894
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
krumm_15_ASD_discovery_cases-case14449.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15407823
CNV End: 15519525
CNV Size: 111703
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MPV17L, C16orf45
leblond_12_ASD_replication_cases-Pintocase6319_3
Clinical Profile:
ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
Cognitive Profile:
Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
Leblond CS , et al. (2012)Primary Diagnosis: PDD-NOS
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 16153614
CNV End: 16167394
CNV Size: 13781
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
leppa_16_ASD_discovery_cases-AU011404
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 15386143
CNV End: 16196143
CNV Size: 810001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
leppa_16_ASD_discovery_cases-AU060703
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 15386143
CNV End: 16196143
CNV Size: 810001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
leppa_16_ASD_discovery_cases-AU079103
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 15386143
CNV End: 18173143
CNV Size: 2787001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, RPL7P47, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, XYLT1, MYH11
leppa_16_ASD_discovery_cases-AU079104
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 15386143
CNV End: 18173143
CNV Size: 2787001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, RPL7P47, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, XYLT1, MYH11
leppa_16_ASD_discovery_cases-AU1039302
Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 15031143
CNV End: 16196143
CNV Size: 1165001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
leppa_16_ASD_discovery_cases-AU1039303
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 15031143
CNV End: 16196143
CNV Size: 1165001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
leppa_16_ASD_discovery_cases-AU1194302
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 15031143
CNV End: 16536143
CNV Size: 1505001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
leppa_16_ASD_discovery_cases-AU2313303
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 15033143
CNV End: 16198143
CNV Size: 1165001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
leppa_16_ASD_discovery_cases-AU3128302
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14804143
CNV End: 16198143
CNV Size: 1394001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
levy_11_ASD_discovery_cases-11450.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14774022
CNV End: 15064007
CNV Size: 289986
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, NOMO1, NTAN1, NPIPA1, PDXDC1, RRN3
levy_11_ASD_discovery_cases-11450.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15310519
CNV End: 16305809
CNV Size: 995291
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
levy_11_ASD_discovery_cases-11511.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15489502
CNV End: 16289821
CNV Size: 800320
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
lionel_13_ASD/SCZ/EP_discovery_cases-proband4
Clinical Profile:
Proband examined at age of five years for seizures of unknown type or duration; individual lost to follow-up; no detailed clinical information obtained; family samples not available for testing.
Cognitive Profile:
N/A
Lionel AC , et al. (2013)Primary Diagnosis: Epilepsy
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 16100662
CNV End: 16678513
CNV Size: 577852
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, ABCC6, PKD1P1, ABCC1, NOMO3, NPIPA7
mak_17_ASD_discovery_cases-case7
Primary Diagnosis: ASD
Age: 23 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15031901
CNV End: 16194046
CNV Size: 1162146
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
mak_17_ASD_discovery_cases-case8
Clinical Profile:
Epilepsy, global developmental delay, ASD
Cognitive Profile:
-
Mak ASL , et al. (2017)Primary Diagnosis: ASD, developmental delay, and epilepsy
Age: 17 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15031901
CNV End: 16194046
CNV Size: 1162146
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
mulle_13_SCZ_discovery_cases_1-caseAJ_8290_1
Primary Diagnosis: Schizophrenia
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14978918
CNV End: 16283793
CNV Size: 1304876
Validation Description: Solid phase hybridization
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
nguyen_13_DD/ID/MCA/ASD_discovery_cases-261058
Clinical Profile:
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
Cognitive Profile:
-
Nguyen LS , et al. (2013)Primary Diagnosis: DD/ID/MCA
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15398460
CNV End: 18018919
CNV Size: 2620460
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, RPL7P47, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, XYLT1, MYH11
oikonomakis_16_ASD_discovery_cases-case578
Clinical Profile:
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, hyperactivity, long philtrum, thin upper lip
Cognitive Profile:
-
Oikonomakis V , et al. (2016)Primary Diagnosis: ASD
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14954894
CNV End: 15402595
CNV Size: 447702
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, PDXDC1, RRN3
pinto_10_ASD_discovery_cases-case5258_3
Clinical Profile:
Language delay, hx of torJcollis and hydrocele, no epilepsy, brain CT normal
Cognitive Profile:
Average IQ
Pinto D , et al. (2010)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15386022
CNV End: 16269382
CNV Size: 883361
Validation Description: qPCR-Paternal,Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
pinto_14_ASD_discovery_cases2-case14412_5210
Clinical Profile:
Autism on ADI-R and ADOS, no language delay, verbal, no dysmorphic features or other anomalies, neurological exam normal except for clumsiness, normal growth, no epilepsy. Family history: both parents unaffected, negative family history.
Cognitive Profile:
Average IQ (WISC-III at 9 y 2 mo: VIQ 101, PIQ 108, FSIQ 104)
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: 9 yrs. 2 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14958889
CNV End: 16305955
CNV Size: 1347067
Validation Description: qPCR, LR-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
pinto_14_ASD_discovery_cases2-case20070_1331001
Clinical Profile:
Autism on ADI-R and ADOS, no language delay, self-injurious behavior, normal head circumference. Family history: mother with adult SRS total 31, normal head circumference.
Cognitive Profile:
Normal IQ (Differential Abilities Scale at 8 y 6 mo: VIQ 118, PIQ 95, FSIQ 104)
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14807513
CNV End: 15933867
CNV Size: 1126355
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, MYH11
pinto_14_ASD_discovery_cases2-case3441_3
Clinical Profile:
Highfunctioning autism, minor dysmorphic features, no epilepsy. Family history: healthy father.
Cognitive Profile:
Low-average IQ (WISC VIQ 82, PIQ 98, FSIQ 89)
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14807513
CNV End: 16214494
CNV Size: 1406982
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
pinto_14_ASD_discovery_cases2-case4182_1
Clinical Profile:
Autism (based on medical history and ADI-R), verbal with history of language regression and delay, no dysmorphic features, asthma. Family history: identical twin also has ASD; mother with hypothyroidism, vision loss, possible multiple sclerosis, and trisomy X (retroverted uterus, menopause at age 43); father has features of ASD, irritability and aggression.
Cognitive Profile:
Borderline ID (Vineland Adaptive Behavior Composite score 70 at 2 y)
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: 2 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (identical twin with ASD)
CNV Start: 15386022
CNV End: 16198126
CNV Size: 812105
Validation Description: Validation not attempted
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (identical twin with ASD)
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
pinto_14_ASD_discovery_cases2-case9766_202
Clinical Profile:
Autism (autism on ADI-R and ADOS), no language delay, functional language, normal height and weight, head circumference -2.5 SD, no dysmorphic features, normal physical exam, no epilepsy. Family history: no siblings; mother with migraine, father with asthma, otherwise both are healthy; paternal first degree cousin with possible Asperger syndrome, mother's uncle with possible schizophrenia.
Cognitive Profile:
No ID (WISC-R at age 8 y: VIQ 105, PIQ 85, FSIQ 94)
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: 8 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15031584
CNV End: 16198126
CNV Size: 1166543
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
poultney_13_ASD_discovery_cases-case03HI2407A
Clinical Profile:
ASD case from AGRE (AGRE ID AU0875302; NDAR ID NDAR_INVHG892YGK)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 16157661
CNV End: 16165935
CNV Size: 8275
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: -
poultney_13_ASD_discovery_cases-case03HI2580A
Clinical Profile:
ASD case from AGRE (AGRE ID AU0924301; NDAR ID NDAR_INVCE056PE7)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 16157661
CNV End: 16165935
CNV Size: 8275
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: -
poultney_13_ASD_discovery_cases-case04HI2755A
Clinical Profile:
ASD case from AGRE (AGRE ID AU1172301; NDAR ID NDAR_INVKH996HE1)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 16236899
CNV End: 16274077
CNV Size: 37179
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: -
poultney_13_ASD_discovery_cases-case04HI2879A
Clinical Profile:
ASD case from AGRE (AGRE ID AU1039302; NDAR ID NDAR_INVCT450YAQ)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 14838405
CNV End: 16208861
CNV Size: 1370457
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
poultney_13_ASD_discovery_cases-case05HI3916A
Clinical Profile:
ASD case from AGRE (AGRE ID AU1322301; NDAR ID NDAR_INVFJ633RLY)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 15031733
CNV End: 15094235
CNV Size: 62503
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1, RRN3
poultney_13_ASD_discovery_cases-case05HI4694A
Clinical Profile:
ASD case from AGRE (AGRE ID AU1194303; NDAR ID NDAR_INVKM011JX5)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 14838405
CNV End: 16274077
CNV Size: 1435673
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
ramalingam_11_16p13.11_discovery_cases-case1
Clinical Profile:
Hypoplastic left heart syndrome. Mother with CNV has cognitive delay and congenital heart defect.
Cognitive Profile:
NA
Ramalingam A , et al. (2011)Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 14878642
CNV End: 16428642
CNV Size: 1550001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
ramalingam_11_16p13.11_discovery_cases-case10
Clinical Profile:
Microcephaly, epilepsy, static encephalopahty, aggressive behavior
Cognitive Profile:
Global developmental delay
Ramalingam A , et al. (2011)Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 14818642
CNV End: 16198642
CNV Size: 1380001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
ramalingam_11_16p13.11_discovery_cases-case11
Clinical Profile:
Strabismus
Cognitive Profile:
Severe cognitive disability
Ramalingam A , et al. (2011)Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 14958642
CNV End: 16198642
CNV Size: 1240001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
ramalingam_11_16p13.11_discovery_cases-case12
Clinical Profile:
Hypotonia. Father with CNV has history of seizure, cognitive & speech delay, macrocephaly, tall stature, & dysmorphic features. Mother has epilepsy, sleep apnea, and developmental delay.
Cognitive Profile:
Global developmental delay, particularly in language & cognition
Ramalingam A , et al. (2011)Primary Diagnosis: Epilepsy
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 15398642
CNV End: 16198642
CNV Size: 800001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
ramalingam_11_16p13.11_discovery_cases-case2
Clinical Profile:
Microcephaly, congenital heart defect, femoral hypoplasia, vertebral anomalies with scoliosis
Cognitive Profile:
Developmental delay
Ramalingam A , et al. (2011)Primary Diagnosis: Developmental delay
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 14958642
CNV End: 16218642
CNV Size: 1260001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
ramalingam_11_16p13.11_discovery_cases-case3
Primary Diagnosis: Epilepsy
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 15018642
CNV End: 16428642
CNV Size: 1410001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
ramalingam_11_16p13.11_discovery_cases-case4
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 15028642
CNV End: 16198642
CNV Size: 1170001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
ramalingam_11_16p13.11_discovery_cases-case5
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 15028642
CNV End: 16428642
CNV Size: 1400001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
ramalingam_11_16p13.11_discovery_cases-case6
Clinical Profile:
Global developmental delay, failure to thrive, no septum pellucidum and delayed sulcation, severe dysmorphism (upslanting eyes, flat nasal bridge, retrognathia), multiple congenital anomalies (heart, kidney, bone). Mother with CNV has diabetes & mild dysmorphism.
Cognitive Profile:
Global developmental delay
Ramalingam A , et al. (2011)Primary Diagnosis: Developmental delay
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 15398642
CNV End: 16198642
CNV Size: 800001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
rosenfeld_10_ASD_discovery_cases-case24008
Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15446641
CNV End: 15843228
CNV Size: 396587
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: C16orf45, KIAA0430, NDE1, MYH11
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP97-141a1
Clinical Profile:
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: yes. Patient also carried a maternally-inherited nonsense variant in the NDE1 gene.
Cognitive Profile:
Developmental delay: yes. Intellectual disability: yes.
Sajan SA , et al. (2013)Primary Diagnosis: ACC-PMG
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15031584
CNV End: 15074903
CNV Size: 43320
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1, RRN3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP97-141a1
Clinical Profile:
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: yes. Patient also carried a maternally-inherited nonsense variant in the NDE1 gene.
Cognitive Profile:
Developmental delay: yes. Intellectual disability: yes.
Sajan SA , et al. (2013)Primary Diagnosis: ACC-PMG
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15368440
CNV End: 16194188
CNV Size: 825749
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-088
Clinical Profile:
Diagnosis of cerebellar hypoplasia (CBLH).
Cognitive Profile:
-
Sajan SA , et al. (2013)Primary Diagnosis: CBLH
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15031584
CNV End: 15087670
CNV Size: 56087
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1, RRN3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-088
Clinical Profile:
Diagnosis of cerebellar hypoplasia (CBLH).
Cognitive Profile:
-
Sajan SA , et al. (2013)Primary Diagnosis: CBLH
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15386022
CNV End: 16223780
CNV Size: 837759
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
sanders_11_ASD_discovery_cases-11049.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15222634
CNV End: 15368440
CNV Size: 145807
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11049.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 16257660
CNV End: 16662781
CNV Size: 405122
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, PKD1P1, NOMO3, NPIPA7
sanders_11_ASD_discovery_cases-11073.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15882156
CNV End: 15924732
CNV Size: 42577
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11086.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15882156
CNV End: 15924732
CNV Size: 42577
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11227.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15445470
CNV End: 15451165
CNV Size: 5696
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11235.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 100; non-verbal IQ, 97; verbal IQ, 105
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15977992
CNV End: 15983503
CNV Size: 5512
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11450.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 5.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 14807513
CNV End: 15222634
CNV Size: 415122
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA1, PDXDC1, RRN3
sanders_11_ASD_discovery_cases-11450.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 5.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15309854
CNV End: 16305955
CNV Size: 996102
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
sanders_11_ASD_discovery_cases-11511.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15351371
CNV End: 16369393
CNV Size: 1018023
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, C16orf45, MARF1, ABCC1, NOMO3, MYH11
sanders_11_ASD_discovery_cases-11710.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 15882891
CNV End: 15924732
CNV Size: 41842
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11845.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15950018
CNV End: 15954730
CNV Size: 4713
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11918.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15882891
CNV End: 15911711
CNV Size: 28821
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11977.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 10.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15985260
CNV End: 15991694
CNV Size: 6435
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11990.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15985260
CNV End: 15991694
CNV Size: 6435
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12261.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 16.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15882891
CNV End: 15924732
CNV Size: 41842
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12602.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 106
Sanders SJ , et al. (2011)Primary Diagnosis: Aspergers
Age: 9.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 16126833
CNV End: 16223780
CNV Size: 96948
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: ABCC6, ABCC1
sanders_11_ASD_discovery_cases-12622.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 85; non-verbal IQ, 97; verbal IQ, 70
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 16153614
CNV End: 16167394
CNV Size: 13781
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12634.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.2
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 15036871
CNV End: 15075295
CNV Size: 38425
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1, RRN3
sanders_11_ASD_discovery_cases-12892.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 6.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15562347
CNV End: 15570260
CNV Size: 7914
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12944.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 7.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15033545
CNV End: 15099845
CNV Size: 66301
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1, RRN3
sanders_11_ASD_discovery_cases-12944.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 7.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15230693
CNV End: 16198126
CNV Size: 967434
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
sanders_11_ASD_discovery_cases-13162.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15882891
CNV End: 15924732
CNV Size: 41842
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13195.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 15562347
CNV End: 15570260
CNV Size: 7914
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sansovic_17_DD/ID/ASD_discovery_cases-case23
Primary Diagnosis: ASD
Age: 5 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14816348
CNV End: 16100721
CNV Size: 1284374
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
shen_10b_ASD_discovery_cases-caseII:5
Clinical Profile:
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
Cognitive Profile:
IQ not tested; significant childhood learning disability
Shen Y , et al. (2011)Primary Diagnosis: ASD
Age: 41 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14956177
CNV End: 14988855
CNV Size: 32678
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
shen_10b_ASD_discovery_cases-caseIII:1
Clinical Profile:
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Cognitive Profile:
Mental retardation. WISC IQ score of 46.
Shen Y , et al. (2011)Primary Diagnosis: ASD
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: Paternal
Family Profile: Simplex (ASD), Multiplex (language delay)
CNV Start: 14956177
CNV End: 14988855
CNV Size: 32678
Validation Description: -
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Simplex (ASD), Multiplex (language delay)
Genome Build: Unknown
Gene Content: -
shin_15_ASD/DD/ID_discovery_cases-case13
Clinical Profile:
Developmental delay, abnormality of the skin, pectus carinatum
Cognitive Profile:
-
Shin S , et al. (2015)Primary Diagnosis: Developmental delay
Age: 2 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15356432
CNV End: 16403549
CNV Size: 1047118
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
siu_16_ASD_discovery_cases-patient1
Clinical Profile:
Diagnosis of ASD made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and confirmed with the developmental, dimensional and diagnostic interview during adulthood. No additional clinical features reported.
Cognitive Profile:
IQ of 82 [as determined by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version]
Siu WK , et al. (2016)Primary Diagnosis: ASD
Age: Adult (22-33 yrs.)
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15031901
CNV End: 16194046
CNV Size: 1162146
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
siu_16_ASD_discovery_cases-patient4
Clinical Profile:
Diagnosis of ASD made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and confirmed with the developmental, dimensional and diagnostic interview during adulthood. No additional clinical features reported.
Cognitive Profile:
IQ of 90 [as determined by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version]
Siu WK , et al. (2016)Primary Diagnosis: ASD
Age: Adult (22-33 yrs.)
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15031901
CNV End: 16194046
CNV Size: 1162146
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
siu_16_ASD_discovery_cases-patient5
Clinical Profile:
Diagnosis of ASD made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and confirmed with the developmental, dimensional and diagnostic interview during adulthood. Additional clinical features: left frontal hemangioma, epilepsy.
Cognitive Profile:
IQ of 96 [as determined by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version]
Siu WK , et al. (2016)Primary Diagnosis: ASD
Age: Adult (22-33 yrs.)
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15031901
CNV End: 16194046
CNV Size: 1162146
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
siu_16_ASD_discovery_cases-patient8
Clinical Profile:
Diagnosis of ASD confirmed using ADI-R. Additional clinical features: developmental delay.
Cognitive Profile:
IQ N/A
Siu WK , et al. (2016)Primary Diagnosis: ASD and developmental delay
Age: Pediatric (2-15 yrs.)
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15031901
CNV End: 16194046
CNV Size: 1162146
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case1
Clinical Profile:
ASD, learning difficulties
Cognitive Profile:
Learning difficulties
Tropeano M , et al. (2013)Primary Diagnosis: ASD
Age: 10 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15037866
CNV End: 15060889
CNV Size: 23024
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1, RRN3
tropeano_13_DD/ASD_discovery_cases-case10
Clinical Profile:
Some dysmorphic features
Cognitive Profile:
Arithmetic difficulties, learning difficulties, reading and spelling difficulties
Tropeano M , et al. (2013)Primary Diagnosis: Learning difficulties
Age: 44 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16211879
CNV Size: 1361177
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case11
Clinical Profile:
Ectopic kidney, microcephaly, renal failure, small for age, urinary tract infection
Cognitive Profile:
Developmental delay
Tropeano M , et al. (2013)Primary Diagnosis: Developmental delay
Age: 2 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16211879
CNV Size: 1361177
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case12
Primary Diagnosis: ADHD
Age: 23 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16211879
CNV Size: 1361177
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case13
Clinical Profile:
Flat nasal bridge, gray matter heterotopia, IUGR, polymicrogyria, prominent forehead
Cognitive Profile:
Developmental delay
Tropeano M , et al. (2013)Primary Diagnosis: Developmental delay
Age: 8 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16217213
CNV Size: 1366511
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case14
Primary Diagnosis: Unknown
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16217213
CNV Size: 1366511
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case15
Clinical Profile:
Global developmental delay, plagiocephaly, small stature and growth in <0.4th %ile.
Cognitive Profile:
Global developmental delay, functioning at 24-30 months at age of 42 months
Tropeano M , et al. (2013)Primary Diagnosis: Developmental delay
Age: 3 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16217213
CNV Size: 1366511
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case16
Clinical Profile:
Global developmental delay, speech delay
Cognitive Profile:
Global developmental delay
Tropeano M , et al. (2013)Primary Diagnosis: Developmental delay
Age: 3 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14954894
CNV End: 16182258
CNV Size: 1227365
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case17
Primary Diagnosis: Unknown
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15037866
CNV End: 16182258
CNV Size: 1144393
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case18
Clinical Profile:
Facial asymmetry, learning difficulties, muscular aches, possibly myopathic, scoliosis, selective mutism
Cognitive Profile:
Learning difficulties
Tropeano M , et al. (2013)Primary Diagnosis: Learning difficulties
Age: 13 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15037866
CNV End: 16217213
CNV Size: 1179348
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case19
Clinical Profile:
Inattentive with immature behavior, language understanding issues, poor learning pattern, small child
Cognitive Profile:
-
Tropeano M , et al. (2013)Primary Diagnosis: Learning difficulties and behavioral abnormalities
Age: 6 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16182258
CNV Size: 1331556
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case2
Clinical Profile:
Attention difficulties, delayed speech and language skills, dysmorphic features
Cognitive Profile:
-
Tropeano M , et al. (2013)Primary Diagnosis: Developmental delay
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15037866
CNV End: 15060889
CNV Size: 23024
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1, RRN3
tropeano_13_DD/ASD_discovery_cases-case20
Clinical Profile:
Epilepsy, possible ADHD
Cognitive Profile:
Learning difficulties
Tropeano M , et al. (2013)Primary Diagnosis: Epilepsy
Age: 27 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16182258
CNV Size: 1331556
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case21
Clinical Profile:
Early onset unusual epilepsy, resistant to treatment
Cognitive Profile:
Some learning difficulties
Tropeano M , et al. (2013)Primary Diagnosis: Epilepsy
Age: 15 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16211879
CNV Size: 1361177
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case22
Clinical Profile:
Very small stature (<0.4th %ile on all measurements)
Cognitive Profile:
Global developmental delay
Tropeano M , et al. (2013)Primary Diagnosis: Developmental delay
Age: 2 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16211879
CNV Size: 1361177
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case23
Clinical Profile:
Bilateral duplication of the hallux, digital abnormalities (e.g. syndactyly, polydactyly), facial dysmorphism (e.g. hypertelorism), mild delay, umbilical hernia
Cognitive Profile:
Delayed (atypical) cognitive development
Tropeano M , et al. (2013)Primary Diagnosis: Developmental delay
Age: 1 yr.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16211879
CNV Size: 1361177
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case24
Clinical Profile:
Social and communication disorder, behavioral difficulties
Cognitive Profile:
Learning difficulties
Tropeano M , et al. (2013)Primary Diagnosis: Learning difficulties and behavioral abnormalities
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14954894
CNV End: 16182258
CNV Size: 1227365
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case25
Primary Diagnosis: Unknown
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14954894
CNV End: 16211879
CNV Size: 1256986
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case26
Clinical Profile:
Fine motor delay, motor developmental delay, spinal muscular atrophy
Cognitive Profile:
Developmental delay
Tropeano M , et al. (2013)Primary Diagnosis: Developmental delay
Age: 10 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15037866
CNV End: 16155750
CNV Size: 1117885
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case27
Primary Diagnosis: ASD
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15050263
CNV End: 16182258
CNV Size: 1131996
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case30
Clinical Profile:
Hypoglycemia and poor condition at delivery, poor tone and abnormal neurology at 2 months
Cognitive Profile:
-
Tropeano M , et al. (2013)Primary Diagnosis: Neurological abnormalities
Age: 2 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15402981
CNV End: 16217213
CNV Size: 814233
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case4
Primary Diagnosis: ASD
Age: 4 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16129195
CNV Size: 1278493
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case5
Primary Diagnosis: Unknown
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16155750
CNV Size: 1305048
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case6
Clinical Profile:
Delayed gross motor skills, motor planning problem, social communication difficulty
Cognitive Profile:
-
Tropeano M , et al. (2013)Primary Diagnosis: Developmental delay
Age: 3 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16182258
CNV Size: 1331556
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case7
Clinical Profile:
Developmental delay, absent teeth, bilateral low set ears, chest asymmetry, dysmorphic features, facial asymmetry, GERD, hearing loss, inguinal hearnia, inverted left nipple, IUGR/growth retardation, lack of hair, metabolic bone disease, plagiocephaly, pseudohydrocephalus, triangular face, undescended testes
Cognitive Profile:
-
Tropeano M , et al. (2013)Primary Diagnosis: Developmental delay
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16211879
CNV Size: 1361177
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case8
Clinical Profile:
Global developmental delay
Cognitive Profile:
Global developmental delay
Tropeano M , et al. (2013)Primary Diagnosis: Developmental delay
Age: 2 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16211879
CNV Size: 1361177
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_cases-case9
Clinical Profile:
Dilated cardiomyopathy, learning difficulties, speech problems
Cognitive Profile:
Learning difficulties
Tropeano M , et al. (2013)Primary Diagnosis: Learning difficulties
Age: 48 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14850703
CNV End: 16211879
CNV Size: 1361177
Validation Description: aCGH or MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_16_ASD/NDD_replication_cases-case85
Clinical Profile:
Developmental delay, Asperger's syndrome, ADHD. Family history: Father has ADHD and history of violence; Paternal half-sister has language delay; Grandmother (paternal) had fibromyalgia.
Cognitive Profile:
-
Tropeano M , et al. (2016)Primary Diagnosis: ASD, ADHD, and developmental delay
Age: 4- 10 years
Gender: M
Primary Disorder Inheritence: Possibly paternal
Family Profile: Multi-generational
CNV Start: 14850702
CNV End: 16155750
CNV Size: 1305049
Validation Description: -
Primary Disorder Inheritence: Possibly paternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
ullmann_07_ASD_discovery_cases-patientA-III-1
Clinical Profile:
Behavioral characteristics: hyperactivity, destructive & aggressive behavior. Normal physical appearance. Growth parameters: head circumference, 58 cm (90-97th %ile). Family history: younger brother (patient III-2 in pedigree) diagnosed with autism (also carries 16p13.1 duplication); sister (patient III-3 in pedigree) with low IQ (IQ of 54) and learning problems (carries 16p13.1 duplication); mother with IQ of 72, delayed speech development, learning problems, and OCD.
Cognitive Profile:
-
Ullmann R , et al. (2007)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 14888642
CNV End: 16388642
CNV Size: 1500001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
ullmann_07_ASD_discovery_cases-patientB-III-2
Clinical Profile:
Developmental milestones: at 9 months, proband started to walk, but had no speech. Behavioral characteristics: hyperactivity, aggressive and disruptive behavior, hand flapping, and lack of functional play noted at 9 months. Normal physical appearance. Growth parameters: head circumference, 51 cm (60th %ile). Family history: older brother with delayed speech development but no features of autism (does not carry 16p13.1 duplication); duplication also found in healthy mother, healthy aunt, healthy uncle, and maternal grandfather with borderline symptoms of autism (based on self-administered questionnaire).
Cognitive Profile:
-
Ullmann R , et al. (2007)Primary Diagnosis: Autism
Age: 3.5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14888642
CNV End: 16388642
CNV Size: 1500001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
ullmann_07_ASD_replication_cases-patientC-II-1
Clinical Profile:
Developmental milestones: normal motor development; delayed speech with prominent early echolalia. Behavioral characteristics: aloofness, social anxiety, misinterpretation of the behavior of others, narrow preoccupations. Attending a work & living skills program, has a part-time job. Growth parameters: head circumference, 59.5 cm.
Cognitive Profile:
-
Ullmann R , et al. (2007)Primary Diagnosis: Autism
Age: 18 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14888642
CNV End: 16388642
CNV Size: 1500001
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
ullmann_07_MR_discovery_cases-patientD-II-1
Clinical Profile:
Birth & neonatal history: delivered by C-section at 36 weeks due to polyhydramnios; mechanical ventiliation needed due to pulmonary hypertension; hypertrophic cardiomyopathy diagnosed that did not require further intervention. Developmental milestones: retarded psychomotor and language development. Behavioral characteristics: development of autistic traits that became less apparent when demands were lowered to match intelligence. Dysmorphic features: frontal bossing, low-set ears with prominent antihelix, broad nasal bridge, thin upper lip with cupid's bow shape. Brain MRI: no gross anatomical changes. Growth parameters: normal growth (75th %ile); head circumference, 52 cm (97th %ile). Family history: father with learning disabilities.
Cognitive Profile:
Mental retardation
Ullmann R , et al. (2007)Primary Diagnosis: Mental retardation
Age: 4 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14888642
CNV End: 16388642
CNV Size: 1500001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
ullmann_07_MR_discovery_cases-patientE-II-1
Clinical Profile:
Developmental milestones: delayed development (age equivalence at 10 yrs to that of a 6-yr old child); problems socializing. Psychomotor retardation. Echolalia. Slightly dysmorphic appearance (down-slanting palprebral fissures, epicanthic folds, ptosis, small hands & feet). Brain CT: no gross anatomical changes. Growth parameters: short stature (height of 153.5 cm/<3rd %ile) and obese (weight 72 kg, weight-for-height >97th %ile).
Cognitive Profile:
Mental retardation
Ullmann R , et al. (2007)Primary Diagnosis: Mental retardation
Age: 19 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14888642
CNV End: 16388642
CNV Size: 1500001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
ullmann_07_MR_replication_cases-patientF-II-2
Clinical Profile:
Developmental milestones: delayed motor milestones (holding up head, sitting up without support, and walking); able to speak only ioslated words. Behavioral characteristics: affectionate & kind, no antisocial or aggressive behavior. Dysmorphic features: narrow frontal bone, frontal hirsutism, synophris, small low-set and prominent ears, bulbous nose, thin upper lip, protruding lower lip, high palate, dental malocclusion, prognathism. Severe visual impairment (surgically repaired congenital cataracts, now suffers from convergent strabismus & circular nystagmus). Hypotonia and joint hyperextensibility. Family history: maternal grandmother reported to be mentally retarded; all other family members clinically normal (mother has similar facial appearance but no mental retardation).
Cognitive Profile:
Mental retardation
Ullmann R , et al. (2007)Primary Diagnosis: Mental retardation
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14888642
CNV End: 16388642
CNV Size: 1500001
Validation Description: FISH, aCGH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
wang_10_ASD_discovery_cases-AC0003
Primary Diagnosis: ASD
Age: 31
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 15031584
CNV End: 16195675
CNV Size: 1164092
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient7
Clinical Profile:
Autism
Cognitive Profile:
Intellectual disability (ID)
Winiowiecka-Kowalnik B , et al. (2012)Primary Diagnosis: Autism
Age: 6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15032852
CNV End: 16192866
CNV Size: 1160015
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
wolfe_16_ID_discovery_cases-DECIPHER327130
Clinical Profile:
Psychiatric history: challenging behavior. Mini PAS-ADD evaluation: not available. BPI-S evaluation: not available. Medical history: hypertension, type II diabetes, constipation, asthma, obesity. Dysmorphic features: abnormal facial shape, microtia. Growth parameters: height 147 cm, head circumference 54 cm. Ethnicity: white (British).
Cognitive Profile:
Moderate intellectual disability
Wolfe K , et al. (2016)Primary Diagnosis: Intellectual disability
Age: 45 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14798358
CNV End: 16522569
CNV Size: 1724212
Validation Description: qPCR, FISH, or QF-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
xu_16_ASD/DD/ID_discovery_cases-case11
Clinical Profile:
Primary diagnosis of developmental delay based on DQ scores. Note: CNV coordinates in this report given as RP11-489O1.
Cognitive Profile:
-
Xu Q , et al. (2016)Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 200000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: NCBI36
Gene Content: -
xu_16_ASD/DD/ID_discovery_cases-case12
Clinical Profile:
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
Cognitive Profile:
-
Xu Q , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14805862
CNV End: 16414447
CNV Size: 1608586
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
yin_16_ASD_discovery_cases-case496
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 16196385
CNV End: 16236621
CNV Size: 40237
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6, NOMO3
yuen_17_ASD_discovery_cases-case1-0993-003
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14795144
CNV End: 16609143
CNV Size: 1814000
Validation Description: Affymetrix CytoScan HD
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
yuen_17_ASD_discovery_cases-case2-1359-003
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: sleep disorder; earing loss left ear, tympanic rupture, ear infections; allago hydramneous; febrile seizure age 2
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 14954143
CNV End: 16568143
CNV Size: 1614001
Validation Description: Affymetrix 6.0
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
yuen_17_ASD_discovery_cases-case2-1359-004
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: ADHD; anxiety; sleep disorder; depression
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 14954143
CNV End: 16568143
CNV Size: 1614001
Validation Description: Affymetrix CytoScanHD
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
yuen_17_ASD_discovery_cases-case2-1525-003
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Learning Disorder; allergies;
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15030144
CNV End: 16373643
CNV Size: 1343500
Validation Description: Affymetrix CytoScan HD
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
yuen_17_ASD_discovery_cases-case2-1721-003
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: ADHD; anxiety
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14762144
CNV End: 16326143
CNV Size: 1564000
Validation Description: Affymetrix CytoScanHD
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, NPIPA2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
yuen_17_ASD_discovery_cases-case7-0024-003
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Anxiety; degenerative tremor; Nonverbal learning disability; developmental coordination disorder
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 14954143
CNV End: 16560143
CNV Size: 1606001
Validation Description: Illumina OMNI 2.5M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
yuen_17_ASD_discovery_cases-case7-0024-005
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Anxiety; epilepsy; Ventricular Septal Defect (VSD)?; apraxia
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 14954143
CNV End: 16560143
CNV Size: 1606001
Validation Description: Affymetrix CytoScan HD
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
yuen_17_ASD_discovery_cases-case7-0105-003
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: ADHD
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14762144
CNV End: 16654143
CNV Size: 1892000
Validation Description: Affymetrix CytoScan HD
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPA2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
yuen_17_ASD_discovery_cases-case7-0123-003
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14893144
CNV End: 16325143
CNV Size: 1432000
Validation Description: Affymetrix CytoScanHD
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
yuen_17_ASD_discovery_cases-case7-0185-003
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Seizures suspected, Tourette's
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14796144
CNV End: 16318143
CNV Size: 1522000
Validation Description: Affymetrix CytoScan HD
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
yuen_17_ASD_discovery_cases-caseAU060703
Clinical Profile:
Case cohort: AGRE. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 14798144
CNV End: 16272343
CNV Size: 1474200
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
yuen_17_ASD_discovery_cases-caseAU079104
Clinical Profile:
Case cohort: AGRE. Clinical description: skin abnormality - bumps on arms; Small erosive gab in teeth between the two front; OCD and ADHD symptoms
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 14942144
CNV End: 16390643
CNV Size: 1448500
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
yuen_17_ASD_discovery_cases-caseAU3124304
Clinical Profile:
Case cohort: AGRE. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 14762144
CNV End: 16469143
CNV Size: 1707000
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPA2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
yuen_17_ASD_discovery_cases-caseAU3124311
Clinical Profile:
Case cohort: AGRE. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14796144
CNV End: 16453143
CNV Size: 1657000
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
yuen_17_ASD_discovery_cases-caseAU4054301
Clinical Profile:
Case cohort: AGRE. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 14796144
CNV End: 16370143
CNV Size: 1574000
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
brandler_18_ASD_discovery_cases-caseMT_14.3
Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15362394
CNV End: 16275493
CNV Size: 913100
Validation Description: PCR or SNP data validation (SNP VCF)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
breuss_19_ASD_discovery_cases-caseF18_II-1
Clinical Profile:
Diagnosis of ASD (autism was assessed by a clinical psychologist using the Autism Diagnostic Interview-Revised, the Autism Diagnostic Observation Schedule and the Childhood Autism Rating Scale).
Cognitive Profile:
-
Breuss MW , et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15362394
CNV End: 16275493
CNV Size: 913100
Validation Description: PCR, ddPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA5, MPV17L, NDE1, ABCC6, BMERB1, MARF1, ABCC1, NOMO3, MYH11
chen_21_ASD/DD/ID_discovery_cases-case38
Clinical Profile:
Developmental delay/intellectual disability
Cognitive Profile:
Developmental delay/intellectual disability
Chen JS et al. (2021)Primary Diagnosis: Developmental delay/intellectual disability
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15037718
CNV End: 16195017
CNV Size: 1157300
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, CEP20, ABCC6, PDXDC1, RRN3, BMERB1, MARF1, ABCC1, NDE1, MYH11
du_21_ASD/DD/ID_discovery_cases-case31
Clinical Profile:
Speech delay, low carnitine levels, language disorder
Cognitive Profile:
-
Du X et al. (2021)Primary Diagnosis: Developmental delay
Age: 4 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14875001
CNV End: 16198126
CNV Size: 1323126
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P3, PKD1P6, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR1972-1, MIR3179-1, MIR3180-4, MIR3670-1, MIR3180-1, NPIPP1, MIR6511B2, MIR6506, MIR6770-1, MIR6511A1, RNU6-213P, MARF1, NPIPA1, PDXDC1, NOMO1
fan_19_ASD_discovery_cases-caseASD443
Primary Diagnosis: ASD
Age: 8 yrs. 11 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15355840
CNV End: 16200848
CNV Size: 845009
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, MARF1, ABCC1, MYH11
feliciano_19_ASD_discovery_cases-caseSP0032712
Clinical Profile:
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
Cognitive Profile:
-
Feliciano P et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 16154628
CNV End: 16165934
CNV Size: 11307
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
husson_20_ASD_discovery_cases-case106
Primary Diagnosis: ASD and intellectual disability
Age: 11 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14875036
CNV End: 16173404
CNV Size: 1298369
Validation Description: ddPCR, QMPSF, or aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, ABCC6, NPIPA1, PDXDC1, RRN3, BMERB1, MARF1, ABCC1, MYH11
husson_20_ASD_discovery_cases-case225
Primary Diagnosis: ASD and intellectual disability
Age: 5 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14875036
CNV End: 16173404
CNV Size: 1298369
Validation Description: ddPCR, QMPSF, or aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, ABCC6, NPIPA1, PDXDC1, RRN3, BMERB1, MARF1, ABCC1, MYH11
kushima_18_ASD_discovery_cases-caseASD0509
Clinical Profile:
Developmental milestones: motor delay. Motor and musculoskeletal evaluation: motor coordination deficits. Behavioral/psychiatric evaluation: tic disorders (motor and vocal tics). Family history: positive for stuttering.
Cognitive Profile:
IQ > 70
Kushima I , et al. (2018)Primary Diagnosis: ASD
Age: 46 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Not simplex
CNV Start: 15375457
CNV End: 16198187
CNV Size: 822731
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Not simplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kushima_18_SCZ_discovery_cases-caseSCZ0240
Clinical Profile:
Behavioral/psychiatric evaluation: onset of schizophrenia at 15 years of age (core symptoms include delusions (grandiose type)), social withdrawal, trichotillomania, aggressive behavior, mood symptoms. Family history: positive for schizophrenia (SCZ).
Cognitive Profile:
Intellectual disability (IQ < 70)
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia, ID
Age: 39 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Not simplex
CNV Start: 15328439
CNV End: 16443962
CNV Size: 1115524
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Not simplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kushima_18_SCZ_discovery_cases-caseSCZ0673
Clinical Profile:
No additional clinical information reported for this individual. Family history: unknown.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia
Age: 22 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15318125
CNV End: 16294378
CNV Size: 976254
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
kushima_18_SCZ_discovery_cases-caseSCZ0714
Clinical Profile:
Behavioral/psychiatric evaluation: onset of schizophrenia at 20 years of age (core symptoms include visual and auditory hallucinations, somatic delusions). Physical comorbidities: breast cancer. Congenital and developmental phenotypes: congenital dislocation of the hip joint. Family history: positive.
Cognitive Profile:
IQ > 70
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia
Age: 40 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Not simplex
CNV Start: 15030738
CNV End: 16517711
CNV Size: 1486974
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Not simplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kushima_18_SCZ_discovery_cases-caseSCZ2392
Clinical Profile:
No additional clinical information reported for this individual. Family history: unknown.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia
Age: 19 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15029830
CNV End: 16415941
CNV Size: 1386112
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kushima_18_SCZ_discovery_cases-caseSCZ2500
Clinical Profile:
No additional clinical information reported for this individual. Family history: unknown.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia
Age: 42 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 14780667
CNV End: 16415941
CNV Size: 1635275
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kushima_22_ASD_discovery_cases-caseASD0509
Clinical Profile:
Diagnosis of ASD according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15030737
CNV End: 16198187
CNV Size: 1167451
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P6, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR3180-4, NPIPP1, MIR6511B2, MIR6506, RNU6-213P, MARF1, PDXDC1
kushima_22_BPD_discovery_cases-caseBD0755
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15029829
CNV End: 16193427
CNV Size: 1163599
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P6, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR3180-4, NPIPP1, MIR6511B2, MIR6506, RNU6-213P, MARF1, PDXDC1
kushima_22_BPD_discovery_cases-caseBD1672
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15029829
CNV End: 16415941
CNV Size: 1386113
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P2, PKD1P1, PKD1P6, NOMO3, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR3180-4, MIR3179-2, MIR3180-2, MIR3670-2, NPIPP1, NPIPA7, MIR6511A3, MIR6511B2, MIR6511A2, MIR6506, MIR6770-2, RNU6-213P, MARF1, PDXDC1
kushima_22_BPD_discovery_cases-caseBD1901
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15029829
CNV End: 16193427
CNV Size: 1163599
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P6, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR3180-4, NPIPP1, MIR6511B2, MIR6506, RNU6-213P, MARF1, PDXDC1
kushima_22_BPD_discovery_cases-caseBD2035
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15029829
CNV End: 16415941
CNV Size: 1386113
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P2, PKD1P1, PKD1P6, NOMO3, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR3180-4, MIR3179-2, MIR3180-2, MIR3670-2, NPIPP1, NPIPA7, MIR6511A3, MIR6511B2, MIR6511A2, MIR6506, MIR6770-2, RNU6-213P, MARF1, PDXDC1
kushima_22_SCZ_discovery_cases-caseSCZ0240
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15328438
CNV End: 16443962
CNV Size: 1115525
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, NDE1, BMERB1, CEP20, MPV17L, PKD1P2, PKD1P1, NOMO3, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR3179-2, MIR3180-2, MIR3670-2, NPIPA7, MIR6511A3, MIR6511A2, MIR6506, MIR6770-2, RNU6-213P, MARF1
kushima_22_SCZ_discovery_cases-caseSCZ0673
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15318124
CNV End: 16294378
CNV Size: 976255
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, NDE1, BMERB1, CEP20, MPV17L, NOMO3, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR6506, RNU6-213P, MARF1
kushima_22_SCZ_discovery_cases-caseSCZ0714
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15030737
CNV End: 16517711
CNV Size: 1486975
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P2, PKD1P1, PKD1P6, NOMO3, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR3180-4, MIR3179-2, MIR3180-2, MIR3670-2, NPIPP1, NPIPA7, MIR6511A3, MIR6511B2, MIR6511A2, MIR6506, MIR6770-2, RNU6-213P, MARF1, PDXDC1
kushima_22_SCZ_discovery_cases-caseSCZ2392
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15029829
CNV End: 16415941
CNV Size: 1386113
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P2, PKD1P1, PKD1P6, NOMO3, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR3180-4, MIR3179-2, MIR3180-2, MIR3670-2, NPIPP1, NPIPA7, MIR6511A3, MIR6511B2, MIR6511A2, MIR6506, MIR6770-2, RNU6-213P, MARF1, PDXDC1
kushima_22_SCZ_discovery_cases-caseSCZ2500
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14780666
CNV End: 16415941
CNV Size: 1635276
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P2, PKD1P1, PKD1P3, PKD1P6, NOMO3, MIR484, RPL15P20, ABCC6P2, MYH11, ABCC1, NPIPA5, RPL17P40, MIR1972-1, MIR3179-1, MIR3180-4, MIR3670-1, MIR3179-2, MIR3180-2, MIR3180-1, MIR3670-2, NPIPP1, NPIPA7, MIR6511A3, MIR6511B2, MIR6511A2, MIR6506, MIR6770-2, MIR6770-1, MIR6511A1, RNU6-213P, MARF1, NPIPA1, PDXDC1, NOMO1
kushima_22_SCZ_discovery_cases-caseSCZ3060
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14957418
CNV End: 16415941
CNV Size: 1458524
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P2, PKD1P1, PKD1P6, NOMO3, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR1972-1, MIR3180-4, MIR3179-2, MIR3180-2, MIR3670-2, NPIPP1, NPIPA7, MIR6511A3, MIR6511B2, MIR6511A2, MIR6506, MIR6770-2, RNU6-213P, MARF1, PDXDC1
mahjani_21_ASD_discovery_cases-case165
Clinical Profile:
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
Cognitive Profile:
-
Mahjani B et al. (2021)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14881434
CNV End: 16269382
CNV Size: 1387949
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P3, PKD1P6, NOMO3, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR1972-1, MIR3670-1, MIR3179-1, MIR3180-1, MIR3180-4, NPIPP1, MIR6511B2, MIR6506, MIR6770-1, MIR6511A1, PKD1P6-NPIPP1, RNU6-213P, MARF1, NPIPA1, NOMO1, PDXDC1
mahjani_21_ASD_discovery_cases-case184
Clinical Profile:
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
Cognitive Profile:
-
Mahjani B et al. (2021)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15036082
CNV End: 16169806
CNV Size: 1133725
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P6, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR3180-4, NPIPP1, MIR6511B2, MIR6506, PKD1P6-NPIPP1, RNU6-213P, MARF1, PDXDC1
mahjani_21_ASD_discovery_cases-case223
Clinical Profile:
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
Cognitive Profile:
-
Mahjani B et al. (2021)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15038104
CNV End: 16198126
CNV Size: 1160023
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P6, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR3180-4, NPIPP1, MIR6511B2, MIR6506, PKD1P6-NPIPP1, RNU6-213P, MARF1, PDXDC1
miyake_23_ASD_discovery_cases-case9445
Clinical Profile:
Case clinically diagnosed with ASD based on DSM-V criteria.
Cognitive Profile:
-
Miyake N et al. (2023)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15719103
CNV End: 16134591
CNV Size: 415489
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: NDE1, CEP20, RPL15P20, MYH11, ABCC1, RPL17P40, RNU6-213P
munnich_19_ASD_discovery_cases-case30
Clinical Profile:
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
Cognitive Profile:
-
Munnich A , et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14954894
CNV End: 16182258
CNV Size: 1227365
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, BMERB1, MARF1, ABCC1, MYH11
tuncay_23_ASD_discovery_cases-caseMCD-015-1
Clinical Profile:
Case diagnosed with ASD according to ADOS, ADI-R, and DSM-V.
Cognitive Profile:
-
Tuncay IO et al. (2023)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 16235201
CNV End: 16269703
CNV Size: 34503
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
tuncay_23_ASD_discovery_cases-caseMCD-030-3
Clinical Profile:
Case diagnosed with ASD according to ADOS, ADI-R, and DSM-V.
Cognitive Profile:
-
Tuncay IO et al. (2023)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 16236109
CNV End: 16270100
CNV Size: 33992
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
verberne_22_ASD/DD/ID_discovery_cases-case433
Clinical Profile:
Developmental delay, hypotonia, peripheral pulmonary stenosis, microcephaly, facial dysmorphism
Cognitive Profile:
-
Verberne EA et al. (2022)Primary Diagnosis: Developmental delay
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14964962
CNV End: 16236815
CNV Size: 1271854
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P6, NOMO3, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR1972-1, MIR3180-4, NPIPP1, MIR6511B2, MIR6506, RNU6-213P, MARF1, PDXDC1
zhang_23_ASD/DD/ID_discovery_cases-caseASD0144
Clinical Profile:
Case clincially diagnosed with ASD according to DSM-V criteria. Additional clinical features: language delay, attention deficit, feeding difficulties. Family history: CNV inherited from normal parent.
Cognitive Profile:
Intellectual disability, learning disabilities, cognitive disorders
Zhang Y et al. (2023)Primary Diagnosis: ASD, developmental delay, and intellectual disability
Age: 2 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14807841
CNV End: 16398456
CNV Size: 1590616
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P2, PKD1P1, PKD1P3, PKD1P6, NOMO3, MIR484, RPL15P20, ABCC6P2, MYH11, ABCC1, NPIPA5, RPL17P40, MIR1972-1, MIR3179-1, MIR3180-4, MIR3670-1, MIR3179-2, MIR3180-2, MIR3180-1, MIR3670-2, NPIPP1, NPIPA7, MIR6511A3, MIR6511B2, MIR6511A2, MIR6506, MIR6770-2, MIR6770-1, MIR6511A1, RNU6-213P, MARF1, NPIPA1, PDXDC1, NOMO1
Show all Control Details
Show all Cohort Details
No control populations reported.
Show all Control Details
Show all Cohort Details
coe_14_ASD/DD/ID_discovery_controls-control10
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control11
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control12
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control13
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control14
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control15
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control16
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control17
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control18
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control19
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control20
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control21
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control22
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control23
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control24
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control25
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control26
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control27
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control28
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control29
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control3
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control30
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control31
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control32
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control33
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control34
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control35
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control36
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control4
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control5
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control6
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control7
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control8
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
coe_14_ASD/DD/ID_discovery_controls-control9
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
engchuan_15_ASD_discovery_controls-controlB343432_1007844537
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15035602
CNV End: 15197384
CNV Size: 161783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, PDXDC1, RRN3
engchuan_15_ASD_discovery_controls-controlB357724_1007844568
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14958889
CNV End: 15222634
CNV Size: 263746
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, PDXDC1, RRN3
engchuan_15_ASD_discovery_controls-controlB399063_0067942624
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 16490462
CNV End: 16725420
CNV Size: 234959
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlB906859_1007845326
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15882156
CNV End: 15924732
CNV Size: 42577
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlB983717_1007842477
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 16202631
CNV End: 16725420
CNV Size: 522790
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, ABCC6, PKD1P1, NOMO3, NPIPA7
engchuan_15_ASD_discovery_controls-controlHABC_900235_900235
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 16152307
CNV End: 16185426
CNV Size: 33120
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_900367_900367
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 16526470
CNV End: 16735679
CNV Size: 209210
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_900446_900446
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15882156
CNV End: 15924732
CNV Size: 42577
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_901197_901197
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14881435
CNV End: 16198126
CNV Size: 1316692
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
engchuan_15_ASD_discovery_controls-controlHABC_902579_902579
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15882891
CNV End: 15924732
CNV Size: 41842
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_902864_902864
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14976010
CNV End: 16189214
CNV Size: 1213205
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
engchuan_15_ASD_discovery_controls-controlHABC_902959_900544
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15031584
CNV End: 15227041
CNV Size: 195458
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, PDXDC1, RRN3
girirajan_11_ASD_discovery_controls-NIMH_309
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14918813
CNV End: 15129771
CNV Size: 210959
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511A1, MIR6770-1, MIR1972-1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA1, PDXDC1, RRN3
girirajan_12_ASD/DD/ID_discovery_controls-control78
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control79
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control80
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control81
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control82
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control83
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control84
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control85
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control86
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control87
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control88
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control89
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_12_ASD/DD/ID_discovery_controls-control90
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
girirajan_13a_ASD_discovery_controls3-control10
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_controls3-control11
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_controls3-control12
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_controls3-control13
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_controls3-control14
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_controls3-control15
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_controls3-control16
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_controls3-control17
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_controls3-control18
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_controls3-control6
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_controls3-control7
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_controls3-control8
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
girirajan_13a_ASD_discovery_controls3-control9
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15073641
CNV End: 16723642
CNV Size: 1650002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
itsara_10_ASD_discovery_controls_2-11020
Primary Diagnosis: Asthma
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15386022
CNV End: 16195675
CNV Size: 809654
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0016
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0017
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0018
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0019
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0020
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0021
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0022
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0023
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0024
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0025
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0026
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0027
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0028
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0029
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0030
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0031
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0032
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0033
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0034
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0035
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0036
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0037
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
kaminsky_11_DD/ID/ASD_discovery_controls-control0038
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15410597
CNV End: 16198411
CNV Size: 787815
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
krumm_13_ASD_discovery_controls-control12652.s1
Clinical Profile:
Unaffected sibling from SSC quad family 12652. SRS score of 45.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15031734
CNV End: 15074861
CNV Size: 43128
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1, RRN3
krumm_13_ASD_discovery_controls-control13125.s1
Clinical Profile:
Unaffected sibling from SSC quad family 13125. SRS score of 58.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15032860
CNV End: 15041676
CNV Size: 8817
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1
krumm_13_ASD_discovery_controls-control13689.s1
Clinical Profile:
Unaffected sibling from SSC quad family 13689. SRS score of 50.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 16052723
CNV End: 16182588
CNV Size: 129866
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RPL17P40, ABCC6, ABCC1
krumm_15_ASD_discovery_controls-control11731.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15031734
CNV End: 15041676
CNV Size: 9943
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1
krumm_15_ASD_discovery_controls-control12622.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 16157662
CNV End: 16165933
CNV Size: 8272
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_controls-control13125.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15032860
CNV End: 15041676
CNV Size: 8817
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1
krumm_15_ASD_discovery_controls-control13721.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 16154627
CNV End: 16165933
CNV Size: 11307
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_controls-control14449.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15434653
CNV End: 15519525
CNV Size: 84873
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
leppa_16_ASD_discovery_controls-AU012203
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 15031143
CNV End: 16196143
CNV Size: 1165001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
leppa_16_ASD_discovery_controls-AU3128301
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 14804143
CNV End: 16198143
CNV Size: 1394001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
levy_11_ASD_discovery_controls-11545.s1
Primary Diagnosis: Control
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15396831
CNV End: 16428557
CNV Size: 1031727
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
levy_11_ASD_discovery_controls-12020.s1
Primary Diagnosis: Control
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15391474
CNV End: 16195084
CNV Size: 803611
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
levy_11_ASD_discovery_controls-12020.s2
Primary Diagnosis: Control
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15396831
CNV End: 16195084
CNV Size: 798254
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
levy_11_ASD_discovery_controls-12372.s1
Primary Diagnosis: Control
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 15418530
CNV End: 16199293
CNV Size: 780764
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
poultney_13_ASD_discovery_controls-control04C35546A
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14838405
CNV End: 16255827
CNV Size: 1417423
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
reinthaler_14_EP_discovery_controls-control12
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14706143
CNV End: 16306143
CNV Size: 1600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, NPIPA3, NPIPA2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
reinthaler_14_EP_discovery_controls-control13
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14706143
CNV End: 16306143
CNV Size: 1600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, NPIPA3, NPIPA2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
reinthaler_14_EP_discovery_controls-control14
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14706143
CNV End: 16306143
CNV Size: 1600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, NPIPA3, NPIPA2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11
sanders_11_ASD_discovery_controls-11336.s1
Primary Diagnosis: Control (matched sibling)
Age: 12.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 16633447
CNV End: 16692149
CNV Size: 58703
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11545.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 16126833
CNV End: 16198126
CNV Size: 71294
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: ABCC6, ABCC1
sanders_11_ASD_discovery_controls-11545.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 15386022
CNV End: 16111644
CNV Size: 725623
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, C16orf45, MARF1, ABCC1, MYH11
sanders_11_ASD_discovery_controls-11808.s1
Primary Diagnosis: Control (matched sibling)
Age: 12.2
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 16680688
CNV End: 16696413
CNV Size: 15726
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12020.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 15322608
CNV End: 16223780
CNV Size: 901173
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
sanders_11_ASD_discovery_controls-12261.s1
Primary Diagnosis: Control (matched sibling)
Age: 21.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 15560474
CNV End: 15583240
CNV Size: 22767
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12347.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 15386022
CNV End: 16274040
CNV Size: 888019
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
sanders_11_ASD_discovery_controls-12372.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 15270490
CNV End: 16198126
CNV Size: 927637
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11
sanders_11_ASD_discovery_controls-12424.s1
Primary Diagnosis: Control (matched sibling)
Age: 6.2
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 15562347
CNV End: 15570260
CNV Size: 7914
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12469.s1
Primary Diagnosis: Control (matched sibling)
Age: 8.7
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 16152307
CNV End: 16167394
CNV Size: 15088
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12652.s1
Primary Diagnosis: Control (matched sibling)
Age: 4.1
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 14958889
CNV End: 15099845
CNV Size: 140957
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: MIR1972-1, NTAN1, PDXDC1, RRN3
sanders_11_ASD_discovery_controls-12661.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.2
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 15882891
CNV End: 15919023
CNV Size: 36133
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12964.s1
Primary Diagnosis: Control (matched sibling)
Age: 8.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 15562347
CNV End: 15571241
CNV Size: 8895
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
tropeano_13_DD/ASD_discovery_controls-control-Cooper_1
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14730337
CNV End: 16230924
CNV Size: 1500588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_controls-control-Shaikh_1
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14939085
CNV End: 16447216
CNV Size: 1508132
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
tropeano_13_DD/ASD_discovery_controls-control-Shaikh_2
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14943584
CNV End: 16103176
CNV Size: 1159593
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_1
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14939085
CNV End: 16006804
CNV Size: 1067720
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_2
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14939085
CNV End: 16096715
CNV Size: 1157631
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_3
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15031584
CNV End: 16195675
CNV Size: 1164092
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_4
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14939085
CNV End: 16447216
CNV Size: 1508132
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_5
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14968542
CNV End: 15898880
CNV Size: 930339
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, PDXDC1, RRN3, C16orf45, MARF1, MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_6
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14968542
CNV End: 15909795
CNV Size: 941254
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, PDXDC1, RRN3, C16orf45, MARF1, MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_7
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15031584
CNV End: 16195675
CNV Size: 1164092
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_8
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15031584
CNV End: 16195675
CNV Size: 1164092
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_9
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15031584
CNV End: 16195675
CNV Size: 1164092
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kushima_18_ASD/SCZ_discovery_controls-controlCON0290
Clinical Profile:
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Control
Age: 30 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15375457
CNV End: 16416599
CNV Size: 1041143
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kushima_18_ASD/SCZ_discovery_controls-controlCON1016
Clinical Profile:
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Control
Age: 24 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15029830
CNV End: 16193427
CNV Size: 1163598
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11
kushima_18_ASD/SCZ_discovery_controls-controlCON1175
Clinical Profile:
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Control
Age: 39 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15029830
CNV End: 16415941
CNV Size: 1386112
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kushima_18_ASD/SCZ_discovery_controls-controlCON1681
Clinical Profile:
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Control
Age: 21 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15029830
CNV End: 16415941
CNV Size: 1386112
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0290
Clinical Profile:
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15375456
CNV End: 16416599
CNV Size: 1041144
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, NDE1, BMERB1, CEP20, MPV17L, PKD1P2, PKD1P1, NOMO3, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR3179-2, MIR3180-2, MIR3670-2, NPIPA7, MIR6511A3, MIR6511A2, MIR6506, MIR6770-2, RNU6-213P, MARF1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1016
Clinical Profile:
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15029829
CNV End: 16193427
CNV Size: 1163599
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P6, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR3180-4, NPIPP1, MIR6511B2, MIR6506, RNU6-213P, MARF1, PDXDC1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1175
Clinical Profile:
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15029829
CNV End: 16415941
CNV Size: 1386113
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P2, PKD1P1, PKD1P6, NOMO3, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR3180-4, MIR3179-2, MIR3180-2, MIR3670-2, NPIPP1, NPIPA7, MIR6511A3, MIR6511B2, MIR6511A2, MIR6506, MIR6770-2, RNU6-213P, MARF1, PDXDC1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1681
Clinical Profile:
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I et al. (2022)