Rhabdomyolysis and metabolic muscle disorders
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
3 reviews
Arina Puzriakova (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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)
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, UCLCreated: 21 Mar 2017, 2:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 3 610505
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 3 610505
- OMIM
- 604723
- Clinvar variants
- Variants in TSFM
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Optic neuropathy
- Early onset or syndromic epilepsy
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