TP53RK

TP53 regulating kinase
OMIM: 608679, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green TP53RK in Severe microcephaly


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Galloway-Mowat syndrome 4, OMIM:617730
Green TP53RK in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.10
Latest signed off version: v7.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Galloway-Mowat syndrome 4, OMIM:617730
Green TP53RK in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • GALLOWAY-MOWAT SYNDROME 4, 617730
    Green TP53RK in Proteinuric renal disease


    Level 2: Renal
    Version 6.1
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Galloway-Mowat syndrome 4 #617730