Unexplained young onset end-stage renal disease
Gene: ALG8
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' 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, imprinted status unknown
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 Cystic kidney disease panel (https://panelapp.genomicsengland.co.uk/panels/283/).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, imprinted status unknown
Phenotypes
cystic liver disease; Polycystic liver disease 3 with or without kidney cysts, 617874; cystic kidney disease
Tag Q4_23_promote_green was removed from gene: ALG8.
Source Expert Review Green was added to ALG8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_23_promote_green tag was added to gene: ALG8.
gene: ALG8 was added gene: ALG8 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ALG8 were set to cystic liver disease; cystic kidney disease; Polycystic liver disease 3 with or without kidney cysts, 617874