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Inborn errors of metabolism

Gene: TSFM

Green List (high evidence)

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

3 reviews

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.

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Relevant phenotype in sufficient families with variants
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 3 610505

Publications

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 3, 610505
  • Combined oxidative phosphorylation deficiency 3 610505
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
OMIM
604723
Clinvar variants
Variants in TSFM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TSFM. Source London North GLH was added to TSFM.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Combined oxidative phosphorylation deficiency 3 610505; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: TSFM Publications for gene TSFM were changed from 27604308; 25037205; 17033963 to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TSFM was added gene: TSFM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSFM were set to 27604308; 25037205; 17033963 Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505