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  3. TOP3A
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Mitochondrial disorders

Gene: TOP3A

Green List (high evidence)
TOP3A (DNA topoisomerase III alpha)
EnsemblGeneIds (GRCh38): ENSG00000177302
EnsemblGeneIds (GRCh37): ENSG00000177302
OMIM: 601243, Gene2Phenotype
TOP3A is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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.
Created: 23 May 2019, 3:38 p.m.

Panel version: 1.364

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Currently one case reported (see publication).
Sources: Expert list
Created: 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

Created: 25 Feb 2019, 4:44 p.m.

Panel version: 1.109

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
OMIM
601243
Clinvar variants
Variants in TOP3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 May 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: top3a has been classified as Green List (High Evidence).

21 May 2019, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

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)

25 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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