Unexplained young onset end-stage renal disease
Gene: AVPR2
The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 2:13 p.m. | Last Modified: 2 May 2024, 2:13 p.m.
Panel Version: 4.3
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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 was removed from gene: AVPR2.
Source Expert Review Green was added to AVPR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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