Possible mitochondrial disorder - nuclear genes

Gene: TXN2

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studies

Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Combined oxidative phosphorylation deficiency 29, 616811

Publications

• 26626369

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 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.

Green List (high evidence)

single mutation report in literature (only one case)

Created: 7 Feb 2016, 9:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal