Unexplained young onset end-stage renal disease
Gene: PHEX
The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' 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
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hypophosphatemic rickets, X-linked dominant 307800
Tag Q4_23_promote_green was removed from gene: PHEX.
Source Expert Review Green was added to PHEX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_23_promote_green tag was added to gene: PHEX.
gene: PHEX was added gene: PHEX was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant 307800