Unexplained young onset end-stage renal disease
Gene: HPRT1
The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' 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, biallelic mutations in females
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, biallelic mutations in females
Phenotypes
Lesch-Nyhan syndrome, OMIM:300322; Hyperuricemia, HRPT-related, OMIM:300323
Tag Q4_23_promote_green was removed from gene: HPRT1.
Source Expert Review Green was added to HPRT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_23_promote_green tag was added to gene: HPRT1.
gene: HPRT1 was added gene: HPRT1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome, OMIM:300322; Hyperuricemia, HRPT-related, OMIM:300323