Inherited white matter disorders
Gene: TUFM
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
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.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Amber List (Moderate Evidence).
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.
This gene has been classified as Amber List (Moderate Evidence).
TUFM was added to Inherited white matter disorderspanel. Sources: Expert list
TUFM was created by [email protected]