Nephrocalcinosis or nephrolithiasis
Gene: FGF23
Add this gene. Would expect to have similar phenotype as PHEX, as both are caused by excess FGF23.Created: 30 Oct 2019, 11:59 a.m. | Last Modified: 30 Oct 2019, 11:59 a.m.
Panel Version: 1.23
Leaving this gene red as no published evidence to date to associate variants in this gene with Nephrocalcinosis or nephrolithiasis. However, it is a likely contender so added the watchlist tag.Created: 30 Oct 2019, 1:49 p.m. | Last Modified: 30 Oct 2019, 1:49 p.m.
Panel Version: 1.23
Associated with Hypophosphatemic rickets, autosomal dominant #193100 (AD) in OMIM.
PMID: 11062477 - ADHR Consortium. 2002 - report 4 families with Autosomal dominant hypophosphataemic rickets with variants in FGF23. Families 1406 and 1478 shared the same change, R176Q (527G→A). Family 2318 had an R179W (535C→T) change and family 329 had an R179Q (536G→A) substitution. NO MENTION OF NEPHROCALCINOSIS OR NEPTHROLITHIASIS
Pubmed search did not find cases with variants in FGF23 and patients with nephrocalcinosis or nephrolithiasisCreated: 21 Oct 2019, 12:36 a.m. | Last Modified: 21 Oct 2019, 12:36 a.m.
Panel Version: 1.22
Tag watchlist tag was added to gene: FGF23.
gene: FGF23 was added gene: FGF23 was added to Nephrocalcinosis or nephrolithiasis. Sources: Expert list Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown