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Inborn errors of metabolism

Gene: TUFM

Green List (high evidence)

TUFM (Tu translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000178952
EnsemblGeneIds (GRCh37): ENSG00000178952
OMIM: 602389, Gene2Phenotype
TUFM is in 10 panels

6 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Created: 14 Oct 2019, 1:41 p.m. | Last Modified: 14 Oct 2019, 1:42 p.m.
Panel Version: 1.353

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in at least four unrelated cases.
Created: 25 Apr 2019, 4:03 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple unrelated individuals with bi-allelic variants in this gene reported in the literature.
Created: 1 Sep 2018, 5:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 4, MIM#610678

Publications

Variants in this GENE are reported as part of current diagnostic practice

Helen Brittain (Genomics England Curator)

gene: TUFM review by Helen Brittain

Three variants with relevant phenotype in 2 separate families
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 4 610678

Publications

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Sourced from G2P.
Created: 2 Mar 2016, 2:18 p.m.
Comment on list classification: Promoted from red due to expert review, and it is a probable DD gene for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4.
Created: 2 Mar 2016, 2:17 p.m.
This gene was submitted as "EFTU" in the expert list, which is likely to correspond to this HGNC-approved symbol.
Created: 1 Jul 2015, 10:39 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 4 610678
  • Combined oxidative phosphorylation deficiency 4, 610678
OMIM
602389
Clinvar variants
Variants in TUFM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to TUFM. Added phenotypes Combined oxidative phosphorylation deficiency 4 610678 for gene: TUFM Publications for gene TUFM were changed from 27604308 to 26741492; 17160893; 25735936; 28132884 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

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

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 2

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 4 610678 for gene: TUFM Publications for gene TUFM were changed from to 27604308

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: TUFM was added gene: TUFM was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUFM were set to Combined oxidative phosphorylation deficiency 4, 610678; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)