Rhabdomyolysis and metabolic muscle disorders

Gene: TSFM

Green List (high evidence)

TSFM (Ts translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000123297
EnsemblGeneIds (GRCh37): ENSG00000123297
OMIM: 604723, Gene2Phenotype
TSFM is in 14 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Rhabdomyolysis is only reported in one case.
Created: 7 Oct 2020, 11 p.m. | Last Modified: 7 Oct 2020, 11 p.m.
Panel Version: 1.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 3 MIM#610505

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
Combined oxidative phosphorylation deficiency 3 610505

History Filter Activity

21 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Mar 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TSFM was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Expert Review

21 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TSFM was created by sleigh