Mitochondrial disorders
Gene: TXN2There is currently no further evidence to support promoting this gene to green rating; therefore, this gene will remain red until more evidence is available.Created: 3 May 2019, 10:41 a.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
Publications for gene: TXN2 were set to PMID: 26626369
Victorian Clinical Genetics Services was added to TXN2. Panel: Mitochondrial disorders
This gene has been classified as Red List (Low Evidence).
Phenotypes for TXN2 were set to infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy; ?Combined oxidative phosphorylation deficiency 29
This gene has been classified as Red List (Low Evidence).
TXN2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list
TXN2 was created by [email protected]