Possible mitochondrial disorder - nuclear genes
Gene: TXN2
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 29, 616811
Publications
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 29, 616811
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 5 p.m.
Comment on list classification: Added by reviewer, who indicated this has only been reported in a single case - this therefore should be added to the red list at this time. In OMIM, it is indicated with a question mark as it has been reported in one case.Created: 26 Feb 2016, 11:45 a.m.
single mutation report in literature (only one case)Created: 7 Feb 2016, 9:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: txn2 has been classified as Amber List (Moderate Evidence).
gene: TXN2 was added gene: TXN2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TXN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TXN2 were set to ?Combined oxidative phosphorylation deficiency 29, 616811