TPRKB

TP53RK binding protein
OMIM: 608680, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red TPRKB in Severe microcephaly


Level 2: Neurology
Version 8.41
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Galloway-Mowat syndrome 5, OMIM:617731
Green TPRKB in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.184
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Galloway-Mowat syndrome 5, OMIM:617731
Red TPRKB 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 Red
    • DD-Gene2Phenotype
    Phenotypes
    • GALLOWAY-MOWAT SYNDROME 5, 617731
    Green TPRKB 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 5, OMIM:617731