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 8.36
Latest signed off version: v8.0 (30 Apr 2025)

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 6.181
Latest signed off version: v6.0 (30 Apr 2025)

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


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

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 5.9
    Latest signed off version: v5.0 (30 Apr 2025)

    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