TOP3A

DNA topoisomerase III alpha
OMIM: 601243, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green TOP3A in Mitochondrial DNA maintenance disorder


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098

Green TOP3A in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Bloom Syndrome-like Disorder

Green TOP3A in Confirmed Fanconi anaemia or Bloom syndrome


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2
  • 618097 MGRISCE2 (Bloom-like syndrome)
  • MGRISCE2 (Bloom-like syndrome) 618097

Green TOP3A in Inborn errors of metabolism


Version 1.392

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098

Green TOP3A in Possible mitochondrial disorder - nuclear genes


Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098

Green TOP3A in Fetal anomalies


Version 0.346

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Bloom Syndrome like Disorder

Green TOP3A in DDG2P


Version 1.148

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Bloom Syndrome like Disorder

Green TOP3A in Growth failure in early childhood


Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MGRISCE2 (Bloom-like syndrome) 618097
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2
  • 618097 MGRISCE2 (Bloom-like syndrome)

Green TOP3A in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098