Unexplained young onset end-stage renal disease
Gene: SLC4A1
The rating of this gene has been updated to Green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Renal tubular acidosis, distal, AD, 179800; distal renal tubular acidosis; Renal tubular acidosis, distal, AR 611590
Tag Q4_23_promote_green was removed from gene: SLC4A1.
Source Expert Review Green was added to SLC4A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_23_promote_green tag was added to gene: SLC4A1.
gene: SLC4A1 was added gene: SLC4A1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR 611590; distal renal tubular acidosis; Renal tubular acidosis, distal, AD, 179800