Rhabdomyolysis and Metabolic Myopathy
Gene: MYH1
18 yr old male from a consaguineous family. WES identified homozygous c.1295A>C:p.K432T variant. Only 1 het in gnomad v2 and v3. No functional data.
Sources: LiteratureCreated: 11 Jan 2022, 1:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
rhabdomyolysis, MONDO:0005290
Publications
18 yr old male from a consaguineous family.
WES was performed and a homozygous c.1295A>C:p.K432T was found. Only 1 het in gnomad v2 and v3.
no protein functional work was done
Sources: LiteratureCreated: 7 Jan 2022, 3:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
recurrent rhabdomyolysis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: myh1 has been classified as Red List (Low Evidence).
gene: MYH1 was added gene: MYH1 was added to Rhabdomyolysis. Sources: Literature Mode of inheritance for gene: MYH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYH1 were set to 33755318 Phenotypes for gene: MYH1 were set to rhabdomyolysis, MONDO:0005290 Review for gene: MYH1 was set to RED