1. Genes and Genomic Entities
  2. TOP2B

TOP2B

DNA topoisomerase II beta
OMIM: 126431, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green TOP2B in COVID-19 research


Level 2: Viral research
Version 1.147

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • Recurrent infections, facial dysmorphism, limb anomalies
  • Hoffman syndrome/TOP2B deficiency
  • Predominantly Antibody Deficiencies
Green TOP2B in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.85
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Recurrent infections, facial dysmorphism, limb anomalies
  • Predominantly Antibody Deficiencies
  • Hoffman syndrome/TOP2B deficiency
Red TOP2B in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.169
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296
Amber TOP2B in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Deafness, autosomal dominant
    • nonsyndromic hearing loss