Hypertrophic cardiomyopathy - teen and adult

Gene: MYOM1

Red List (low evidence)

MYOM1 (myomesin 1)
EnsemblGeneIds (GRCh38): ENSG00000101605
EnsemblGeneIds (GRCh37): ENSG00000101605
OMIM: 603508, Gene2Phenotype
MYOM1 is in 1 panel

2 reviews

Rebecca Whittington (South West GLH)

I don't know

No phenotype on OMIM, associations with HCM
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 8 DM variants listed all but one with HCM (the 8th variant assoc with DCM) Cecconi (2016) Int J Mol Med 38: 1111 PubMed: 27600940 lists some of these variants. All missense. Bottillo (2016) Gene 577: 227 PubMed: 26656175 .
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
Unknown

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Details

Mode of Inheritance
Unknown
Sources
  • South West GLH
  • Expert list
OMIM
603508
Clinvar variants
Variants in MYOM1
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to MYOM1. Mode of inheritance for gene MYOM1 was changed from to Unknown

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MYOM1 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list