ClinGen Dosage Sensitivity Curation Page

MYH7

Curation Status: Complete

Links

id: ISCA-35182
Date last evaluated: 2015-11-15
Issue Type: ClinGen Gene Curation
Gene type: protein-coding
ClinGen: Search for information about MYH7 at clinicalgenome.org
Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/4625
OMIM: https://omim.org/entry/160760
Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MYH7%5Bgenesymbol%5D
ClinGen Haploinsufficiency Score: 0
ClinGen Triplosensitivity Score: 0

Location Information

14q11.2
GRCh37/hg19 chr14: 23,881,947-23,904,895
View: NCBI | Ensembl | UCSC
GRCh38/hg38 chr14: 23,412,738-23,435,686
View: NCBI | Ensembl | UCSC

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Genome View
Evidence for Haploinsufficiency Phenotypes
Evidence for Triplosensitive Phenotypes

Select assembly: (NC_000014.8)

Haploinsufficiency score: 0
Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

To date only articles discussing missense mutations in the MYH7 gene have been described in the literature as being associated with Familial hypertrophic cardiomyopathy, dilated cardiomyopathy, Laing Distal Myopathy (LDM), Myosin Storage Myopathy (PMID:23346452, 12788380, 12707239, 21846512, 25576864,24664454 ). PMID: 12788380 does however describe a three base pair deletion leading to an amnio acid loss glutamic acid in position 927. There was no disruption of the reading frame downstream of the deletion.

Triplosensitivity score: 0
Strength of Evidence (disclaimer): No evidence for dosage pathogenicity