ClinGen Dosage Sensitivity Curation Page
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MYH7
- Curation Status: Complete
- 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
- 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