Mitochondrial disorders
Gene: TOP3AComment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: One case reported with functional studies; Newcastle team aware of another unrelated case.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).Created: 23 May 2019, 3:38 p.m.
Currently one case reported (see publication).
Sources: Expert listCreated: 25 Feb 2019, 4:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Publications
Gene: top3a has been classified as Green List (High Evidence).
Source NHS GMS was added to TOP3A. Source Expert Review Green was added to TOP3A. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TOP3A was added gene: TOP3A was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOP3A were set to 29290614 Phenotypes for gene: TOP3A were set to ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 Review for gene: TOP3A was set to RED