Genomics England
GMS Panels
Panels
Genes and Entities

AVPR2

arginine vasopressin receptor 2
OMIM: 300538
PanelMode of inheritanceDetails
3 panels
Green
in Hereditary isolated diabetes insipidus
R-numbers: R440
Signed-off version 2.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Diabetes insipidus, nephrogenic, OMIM:304800, Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539, Diabetes insipidus, nephrogenic, OMIM:304800