Acute rhabdomyolysis
Gene: TSFM
TSFM (Ts translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000123297
EnsemblGeneIds (GRCh37): ENSG00000123297
OMIM: 604723, Gene2Phenotype
TSFM is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000123297
EnsemblGeneIds (GRCh37): ENSG00000123297
OMIM: 604723, Gene2Phenotype
TSFM is in 13 panels
1 review
Arina Puzriakova (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Red but may be subject to review in the future.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
TSFM is rated Green on the GMS 'Rhabdomyolysis and metabolic muscle disorders panel' (version 1.34) panel. Metabolic muscle disorder that can include skeletal muscle weakness but rhabdomyolysis on reported in one case (PMID:17033963) in literature.Created: 19 Jan 2022, 5:51 p.m. | Last Modified: 19 Jan 2022, 5:51 p.m.
Panel Version: 0.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 3, OMIM:610505
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 3, OMIM:610505
- OMIM
- 604723
- Clinvar variants
- Variants in TSFM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Intellectual disability
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Hypertrophic cardiomyopathy
- Undiagnosed metabolic disorders
- Possible mitochondrial disorder - nuclear genes
- Optic neuropathy
- Fetal anomalies
- Acute rhabdomyolysis
History Filter Activity
19 Jan 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: TSFM was added gene: TSFM was added to Acute rhabdomyolysis. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSFM were set to 17033963 Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, OMIM:610505