Possible mitochondrial disorder - nuclear genes
Gene: TSFM

TSFM (Ts translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000123297
EnsemblGeneIds (GRCh37): ENSG00000123297
OMIM: 604723, Gene2Phenotype
TSFM is in 13 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 3, 610505

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Sarah Leigh (Genomics England Curator)

Comment on list classification: Promotion of this gene from red to green on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel
Created: 21 Mar 2017, 10:23 a.m.

Comment on phenotypes: Multiple respiratory chain complex deficiencies (disorders of protein synthesis);
Created: 21 Mar 2017, 9:57 a.m.

Created: 21 Mar 2017, 9:57 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.40

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Combined oxidative phosphorylation deficiency 3, 610505

OMIM

604723

Clinvar variants

Variants in TSFM

Penetrance

None

Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: TSFM was added gene: TSFM was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,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

Possible mitochondrial disorder - nuclear genes Gene: TSFM