Nephrocalcinosis or nephrolithiasis

Gene: FGF23

Red List (low evidence)

FGF23 (fibroblast growth factor 23)
EnsemblGeneIds (GRCh38): ENSG00000118972
EnsemblGeneIds (GRCh37): ENSG00000118972
OMIM: 605380, Gene2Phenotype
FGF23 is in 9 panels

2 reviews

Detlef Bockenhauer (GOSH-UCL)

Green List (high evidence)

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

Eleanor Williams (Genomics England Curator)

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 nephrolithiasis
Created: 21 Oct 2019, 12:36 a.m. | Last Modified: 21 Oct 2019, 12:36 a.m.
Panel Version: 1.22

History Filter Activity

30 Oct 2019, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: FGF23.

21 Oct 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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