TOP2B

DNA topoisomerase II beta
OMIM: 126431, Gene2Phenotype

3 panels

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


Level 2: Viral research
Version 1.142

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


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

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
Amber TOP2B in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

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