TOP3A

DNA topoisomerase III alpha
OMIM: 601243, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green TOP3A in Mitochondrial DNA maintenance disorder


Version 1.3
Signed off v.1.2 on 17 Feb 2020

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 2.6
Signed off v.2.2 on 2 Mar 2020

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 1.5
Signed off v.1.2 on 3 Mar 2020

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 2.8
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.15
    Signed off v.1.13 on 17 Feb 2020

    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 1.73
    Signed off v.1.2 on 17 Feb 2020

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

    Green TOP3A in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • 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 1.8
    Signed off v.1.4 on 3 Mar 2020

    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 2.6
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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

    Green TOP3A in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097
    • ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098