Unexplained young onset end-stage renal disease
Gene: IFT140
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 Cystic kidney disease (https://panelapp.genomicsengland.co.uk/panels/283/) and Renal ciliopathies (https://panelapp.genomicsengland.co.uk/panels/725/) 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
short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964; cystic kidney disease, MONDO:0002473; Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920
Tag Q4_23_promote_green was removed from gene: IFT140.
Source Expert Review Green was added to IFT140. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_23_promote_green tag was added to gene: IFT140.
gene: IFT140 was added gene: IFT140 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: IFT140 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920; cystic kidney disease, MONDO:0002473; short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964