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Possible mitochondrial disorder - nuclear genes

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

4 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 4, 610678

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

Panel version: 0.5

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

Created: 1 Sep 2018, 5:04 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

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

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.
Created: 1 Jul 2015, 10:39 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

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: TUFM was added gene: TUFM was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green 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