Unexplained young onset end-stage renal disease
Gene: AVPR2
This gene has been added with green rating to R257 Unexplained young onset end-stage renal disease panel as it has already been rated green in R198 Renal tubulopathies panel (https://panelapp.genomicsengland.co.uk/panels/292/).Created: 11 Jan 2024, 10:04 a.m. | Last Modified: 11 Jan 2024, 10:04 a.m.
Panel Version: 3.21
Mode of inheritance
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
Tag Q4_23_promote_green tag was added to gene: AVPR2.
gene: AVPR2 was added gene: AVPR2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: AVPR2 were set to Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539; Diabetes insipidus, nephrogenic, OMIM:304800 Mode of pathogenicity for gene: AVPR2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments