TRPV5:Ensemblv115

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

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red TRPV5 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

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