Possible mitochondrial disorder - nuclear genes

Gene: TOP3A

Green List (high evidence)

Updated information and Green review collated 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

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098

Publications

• 29290614

Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.

Created: 10 May 2019, 2:14 p.m.

Comment on list classification: The evidence underlying this gene and mitochondrial DNA maintenance disorders was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was agreed that this gene should be demoted from Green to Amber on this panel due to only a single case (compound heterozygous for variants in this gene) being reported Progressive external ophthalmoplegia with mitochondrial DNA deletions.

Created: 29 Mar 2019, 4:57 p.m.

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
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098

Publications

• 29290614