NC_000015.10:g.(?_72640623)_(75277317_?)dup AND Schizophrenia

Clinical significance:Likely pathogenic (Last evaluated: Mar 20, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000754166.1

Allele description [Variation Report for NC_000015.10:g.(?_72640623)_(75277317_?)dup]

NC_000015.10:g.(?_72640623)_(75277317_?)dup

Genes:
  • ADPGK:ADP dependent glucokinase [Gene - OMIM - HGNC]
  • ADPGK-AS1:ADPGK antisense RNA 1 [Gene - HGNC]
  • ARID3B:AT-rich interaction domain 3B [Gene - OMIM - HGNC]
  • BBS4:Bardet-Biedl syndrome 4 [Gene - OMIM - HGNC]
  • CSK:C-terminal Src kinase [Gene - OMIM - HGNC]
  • CD276:CD276 molecule [Gene - OMIM - HGNC]
  • CLK3:CDC like kinase 3 [Gene - OMIM - HGNC]
  • LOC108964933:CYP11A1 promoter region [Gene]
  • LOC110467515:CYP1A1 5' regulatory region [Gene]
  • LOC110467516:CYP1A2 5' regulatory region [Gene]
  • HIGD2B:HIG1 hypoxia inducible domain family member 2B [Gene - HGNC]
  • INSYN1-AS1:INSYN1 antisense RNA 1 [Gene - HGNC]
  • LOXL1-AS1:LOXL1 antisense RNA 1 [Gene - OMIM - HGNC]
  • NPTN-IT1:NPTN intronic transcript 1 [Gene - OMIM - HGNC]
  • REC114:REC114 meiotic recombination protein [Gene - OMIM - HGNC]
  • LOC112272616:Sharpr-MPRA regulatory region 10472 [Gene]
  • LOC112272615:Sharpr-MPRA regulatory region 315 [Gene]
  • LOC112272614:Sharpr-MPRA regulatory region 8861 [Gene]
  • TBC1D21:TBC1 domain family member 21 [Gene - HGNC]
  • UBL7-AS1:UBL7 antisense RNA 1 (head to head) [Gene - HGNC]
  • LOC110121383:VISTA enhancer hs1510 [Gene]
  • LOC110121492:VISTA enhancer hs2161 [Gene]
  • C15orf39:chromosome 15 open reading frame 39 [Gene - HGNC]
  • CCDC33:coiled-coil domain containing 33 [Gene - HGNC]
  • CPLX3:complexin 3 [Gene - OMIM - HGNC]
  • CYP1A1:cytochrome P450 family 1 subfamily A member 1 [Gene - OMIM - HGNC]
  • CYP1A2:cytochrome P450 family 1 subfamily A member 2 [Gene - OMIM - HGNC]
  • CYP11A1:cytochrome P450 family 11 subfamily A member 1 [Gene - OMIM - HGNC]
  • COX5A:cytochrome c oxidase subunit 5A [Gene - OMIM - HGNC]
  • LOC110467517:enhancer downstream of CYP1A2 [Gene]
  • EDC3:enhancer of mRNA decapping 3 [Gene - OMIM - HGNC]
  • FAM219B:family with sequence similarity 219 member B [Gene - HGNC]
  • GOLGA6A:golgin A6 family member A [Gene - OMIM - HGNC]
  • GOLGA6B:golgin A6 family member B [Gene - HGNC]
  • GOLGA6C:golgin A6 family member C [Gene - HGNC]
  • HCN4:hyperpolarization activated cyclic nucleotide gated potassium channel 4 [Gene - OMIM - HGNC]
  • ISLR2:immunoglobulin superfamily containing leucine rich repeat 2 [Gene - OMIM - HGNC]
  • ISLR:immunoglobulin superfamily containing leucine rich repeat [Gene - OMIM - HGNC]
  • INSYN1:inhibitory synaptic factor 1 [Gene - OMIM - HGNC]
  • LMAN1L:lectin, mannose binding 1 like [Gene - OMIM - HGNC]
  • LINC02255:long intergenic non-protein coding RNA 2255 [Gene - HGNC]
  • LOXL1:lysyl oxidase like 1 [Gene - OMIM - HGNC]
  • MPI:mannose phosphate isomerase [Gene - OMIM - HGNC]
  • MIR12135:microRNA 12135 [Gene - HGNC]
  • MIR4513:microRNA 4513 [Gene - HGNC]
  • MIR6881:microRNA 6881 [Gene - HGNC]
  • MIR6882:microRNA 6882 [Gene - HGNC]
  • NEO1:neogenin 1 [Gene - OMIM - HGNC]
  • NPTN:neuroplastin [Gene - OMIM - HGNC]
  • PPCDC:phosphopantothenoylcysteine decarboxylase [Gene - OMIM - HGNC]
  • PML:promyelocytic leukemia [Gene - OMIM - HGNC]
  • RPP25:ribonuclease P and MRP subunit p25 [Gene - HGNC]
  • SCAMP2:secretory carrier membrane protein 2 [Gene - OMIM - HGNC]
  • SCAMP5:secretory carrier membrane protein 5 [Gene - OMIM - HGNC]
  • SEMA7A:semaphorin 7A (John Milton Hagen blood group) [Gene - OMIM - HGNC]
  • STRA6:stimulated by retinoic acid 6 [Gene - OMIM - HGNC]
  • STOML1:stomatin like 1 [Gene - OMIM - HGNC]
  • LOC105376731:taste receptor cell protein 1-like [Gene]
  • UBL7:ubiquitin like 7 [Gene - OMIM - HGNC]
  • ULK3:unc-51 like kinase 3 [Gene - OMIM - HGNC]
  • LOC283731:uncharacterized LOC283731 [Gene]
Variant type:
Duplication
Cytogenetic location:
15q24.1-24.2
Genomic location:
Chr15: 72640623 - 75277317 (on Assembly GRCh38)
Preferred name:
NC_000015.10:g.(?_72640623)_(75277317_?)dup
HGVS:
NC_000015.10:g.(?_72640623)_(75277317_?)dup

Condition(s)

Name:
Schizophrenia (SCZD)
Synonyms:
SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER
Identifiers:
MedGen: C0036341; OMIM: 181500; Human Phenotype Ontology: HP:0100753

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000777969Department of Psychiatry,Nagoya Universitycriteria provided, single submitter
Likely pathogenic
(Mar 20, 2018)
germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.

Kushima I, Aleksic B, Nakatochi M, Shimamura T, Okada T, Uno Y, Morikawa M, Ishizuka K, Shiino T, Kimura H, Arioka Y, Yoshimi A, Takasaki Y, Yu Y, Nakamura Y, Yamamoto M, Iidaka T, Iritani S, Inada T, Ogawa N, Shishido E, Torii Y, et al.

Cell Rep. 2018 Sep 11;24(11):2838-2856. doi: 10.1016/j.celrep.2018.08.022.

PubMed [citation]
PMID:
30208311

Details of each submission

From Department of Psychiatry,Nagoya University, SCV000777969.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2019

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