Genomics England
GMS Panels
Panels
Genes and Entities

AQP2

aquaporin 2
OMIM: 107777
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary isolated diabetes insipidus
R-numbers: R440
Signed-off version 2.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Diabetes insipidus, nephrogenic, 2, OMIM:125800
Green
in Renal tubulopathies
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 4.18
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Diabetes insipidus, nephrogenic, 125800, Nephrogenic diabetes insipidus