Inherited white matter disorders

Gene: TUFM

Amber List (moderate evidence)

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

4 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note additional published case and functional data.
Created: 24 Jul 2018, 11:49 a.m.

Phenotypes
Combined oxidative phosphorylation deficiency 4

Publications

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

Ellen Thomas (Genomics England Curator)

Comment on list classification: Phenotype definitely relevant but only 1 case. Should be promoted to green when promoted in mitochondrial panel.
Created: 6 Oct 2016, 10:06 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, probable DD gene for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, only 1 case reported in OMIM. A literature search found an additional study that summarises WES findings, but does not provide details on how many patients had a diagnosis of TUFM variants and which variants were identified (PMID: 25735936). On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Combined oxidative phosphorylation deficiency 4. Amber gene in the Mitochondrial panel version 1.10.
Created: 25 Aug 2016, 2:26 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_674

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial Leukoencephalopathy
OMIM
602389
Clinvar variants
Variants in TUFM
Penetrance
Complete
Publications
  • 25655951
  • 17160893 (case report)
  • 25735936 - summarises the findings of exome analysis in 109 patients. 16 out of 42 patients with a high suspicion of a mitochondrial disorder were reported as having a disease causing mutation found in the mitochondrial gene panel - of which TUFM was one of the genes with the biochemical diagnosis of combined OXPHOS enzyme deficiency.
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Aug 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TUFM were set to 25655951; 17160893 (case report); 25735936 - summarises the findings of exome analysis in 109 patients. 16 out of 42 patients with a high suspicion of a mitochondrial disorder were reported as having a disease causing mutation found in the mitochondrial gene panel - of which TUFM was one of the genes with the biochemical diagnosis of combined OXPHOS enzyme deficiency.

25 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

TUFM was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

TUFM was created by [email protected]