TOP3A

DNA topoisomerase III alpha
OMIM: 601243, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TOP3A in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809

Green TOP3A in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098

Green TOP3A in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097

Green TOP3A in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

1 review 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

Green TOP3A in Growth failure


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097

Green TOP3A in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097