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Inborn errors of metabolism

Gene: TOP3A

Green List (high evidence)

TOP3A (DNA topoisomerase III alpha)
EnsemblGeneIds (GRCh38): ENSG00000177302
EnsemblGeneIds (GRCh37): ENSG00000177302
OMIM: 601243, Gene2Phenotype
TOP3A is in 10 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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
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

6 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: TOP3A was added gene: TOP3A was added to Inborn errors of metabolism. Sources: Expert Review Green 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