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GRCh37/hg19 8q22.2(chr8:100108619-100160324) AND Cohen syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 16, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001195120.1

Allele description [Variation Report for GRCh37/hg19 8q22.2(chr8:100108619-100160324)]

GRCh37/hg19 8q22.2(chr8:100108619-100160324)

Gene:
VPS13B:vacuolar protein sorting 13 homolog B [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8q22.2
Genomic location:
Chr8: 100108619 - 100160324 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8q22.2(chr8:100108619-100160324)
HGVS:
NC_000008.10:g.(?_100108619)_(100160324_?)del
Observations:
1

Condition(s)

Name:
Cohen syndrome (COH1)
Synonyms:
Pepper syndrome; Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness
Identifiers:
MONDO: MONDO:0008999; MedGen: C0265223; Orphanet: 193; OMIM: 216550

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001334077Department of Molecular and Human Genetics, Baylor College of Medicine
no assertion criteria provided
Pathogenic
(Apr 16, 2020) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedclinical testing

Citations

PubMed

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.

Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, Schmitt E, Ward PA, Vetrini F, He W, Chiang T, Muzny D, Gibbs RA, et al.

Genet Med. 2020 Oct;22(10):1633-1641. doi: 10.1038/s41436-020-0864-8. Epub 2020 Jun 24.

PubMed [citation]
PMID:
32576985
PMCID:
PMC8445517

Details of each submission

From Department of Molecular and Human Genetics, Baylor College of Medicine, SCV001334077.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not provided1not provided

Last Updated: Apr 23, 2022