Unexplained young onset end-stage renal disease
Gene: FAH
The rating of this gene has been updated to Green and the mode of inheritance set to '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
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 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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type I, OMIM:276700
Tag Q4_23_promote_green was removed from gene: FAH.
Source Expert Review Green was added to FAH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: FAH were changed from Tyrosinemia, type I,OMIM:276700 to Tyrosinemia, type I, OMIM:276700
Phenotypes for gene: FAH were changed from Tyrosinemia, type I to Tyrosinemia, type I,OMIM:276700
Tag Q4_23_promote_green tag was added to gene: FAH.
gene: FAH was added gene: FAH was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Tyrosinemia, type I