Rhabdomyolysis and Metabolic Myopathy
Gene: TSFM
At least 5 families reported, however 3 had the same homozygous variant, ?founder.Created: 16 Apr 2020, 7:26 a.m. | Last Modified: 7 Apr 2022, 4:43 a.m.
Panel Version: 0.12756
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 3, MIM# 610505
Publications
Myopathy is a frequent feature of the condition in 12 cases.
Sources: Expert listCreated: 12 Feb 2020, 10:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 3 MIM#610505
Gene: tsfm has been classified as Green List (High Evidence).
Gene: tsfm has been classified as Red List (Low Evidence).
Publications for gene: TSFM were set to
Gene: tsfm has been classified as Red List (Low Evidence).
gene: TSFM was added gene: TSFM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 610505