Rhabdomyolysis and metabolic muscle disordersGene: TSFM
Although rhabdomyolysis is not a prominent feature, TSFM was included on the basis that it causes a metabolic myopathy which is within the scope of this panel and therefore the Green rating will be maintained at this time.
Created: 17 Jan 2022, 2:36 p.m. | Last Modified: 17 Jan 2022, 2:36 p.m.
Panel Version: 1.74
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL
Created: 21 Mar 2017, 2:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Combined oxidative phosphorylation deficiency 3 610505
This gene has been classified as Green List (High Evidence).
TSFM was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Expert Review
TSFM was created by sleigh