Unexplained young onset end-stage renal disease
Gene: SLC34A3
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 panel (https://panelapp.genomicsengland.co.uk/panels/149/).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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431; Hypophosphatemic rickets with hypercalciuria, OMIM:241530; HHRH
Tag Q4_23_promote_green tag was added to gene: SLC34A3.
gene: SLC34A3 was added gene: SLC34A3 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SLC34A3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: SLC34A3 were set to hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431; HHRH; Hypophosphatemic rickets with hypercalciuria, OMIM:241530