TRPV5

transient receptor potential cation channel subfamily V member 5
OMIM: 606679, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red TRPV5 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • TRPV5-related hypercalciuria (MONDO:0009550)

Red TRPV5 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.17

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • TRPV5-related hypercalciuria (MONDO:0009550)