Unexplained young onset end-stage renal disease
Gene: IFT140
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 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