Unexplained young onset end-stage renal disease
Gene: FLCN
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 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, NOT imprinted
Phenotypes
renal cell carcinoma; Birt-Hogg-Dube syndrome, OMIM:135150; renal oncocytoma; pneumothorax; renal cysts; cutaneous fibrofolliculoma; pulmonary cysts
Tag Q4_23_promote_green was removed from gene: FLCN.
Source Expert Review Green was added to FLCN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_23_promote_green tag was added to gene: FLCN.
gene: FLCN was added gene: FLCN was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome, OMIM:135150; renal cell carcinoma; renal cysts; pneumothorax; renal oncocytoma; pulmonary cysts; cutaneous fibrofolliculoma