Mitochondrial disease
Gene: TOP3A

TOP3A (DNA topoisomerase III alpha)
EnsemblGeneIds (GRCh38): ENSG00000177302
EnsemblGeneIds (GRCh37): ENSG00000177302
OMIM: 601243, Gene2Phenotype
TOP3A is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. Eight unrelated families reported. Single individual reported with PEO phenotype.

Evidence of mitochondrial dysfunction in the microcephaly phenotype.
Created: 2 Apr 2021, 4:29 a.m. | Last Modified: 2 Apr 2021, 4:29 a.m.

Panel Version: 0.586

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098

Publications

Created: 2 Apr 2021, 4:29 a.m.
Last Modified: 2 Apr 2021, 4:29 a.m.
Panel version: 0.586

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098

OMIM

601243

Clinvar variants

Variants in TOP3A

Penetrance

None

Publications

Panels with this gene