Unexplained young onset end-stage renal disease
Gene: HNF4A
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 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, imprinted status unknown
Phenotypes
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Tag Q4_23_promote_green was removed from gene: HNF4A.
Source Expert Review Green was added to HNF4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_23_promote_green tag was added to gene: HNF4A.
gene: HNF4A was added gene: HNF4A was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026