Unexplained young onset end-stage renal disease
Gene: RRAGD
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 R256 Nephrocalcinosis or nephrolithiasis (https://panelapp.genomicsengland.co.uk/panels/149/) and R198 Renal tubulopathies (https://panelapp.genomicsengland.co.uk/panels/292/) panels.Created: 11 Jan 2024, 10:04 a.m. | Last Modified: 11 Jan 2024, 10:04 a.m.
Panel Version: 3.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
salt wasting; hypomagnesaemia; cardiomyopathy; nephrocalcinosis; tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
Tag Q4_23_promote_green was removed from gene: RRAGD.
Source Expert Review Green was added to RRAGD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_23_promote_green tag was added to gene: RRAGD.
gene: RRAGD was added gene: RRAGD was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RRAGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RRAGD were set to salt wasting; tubular renal disease-cardiomyopathy syndrome, MONDO:0019130; cardiomyopathy; hypomagnesaemia; nephrocalcinosis Mode of pathogenicity for gene: RRAGD was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments