Calcium and Phosphate disorders
Gene: FGF23

FGF23 (fibroblast growth factor 23)
EnsemblGeneIds (GRCh38): ENSG00000118972
EnsemblGeneIds (GRCh37): ENSG00000118972
OMIM: 605380, Gene2Phenotype
FGF23 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Hypophosphatemic rickets - autosomal dominant inheritance. PMID: 11062477, 34444516 - At least 5 families. Gain of function is the mechanism of disease.

Familial hyperphosphatemic tumoral calcinosis - autosomal recessive inheritance. PMID: 14966565, 15590700, 16151858, 16030159, 25378588 - At least 4 families with homozygous or compound heterozygous. HFTC causing variants result in reduced secretion of intact FGF23 and increased secretion of the inactive N-terminal and C-terminal fragments. Most are missense variants either eliminating/creating Set/Thr. Supporting mouse model.
Created: 21 Apr 2022, 6:10 a.m. | Last Modified: 21 Apr 2022, 6:10 a.m.

Panel Version: 0.13143

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Apr 2022, 6:10 a.m.
Last Modified: 21 Apr 2022, 6:10 a.m.
Panel version: Imported from Mendeliome panel version 0.13143

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
KidGen_CalcPhos v38.1.0

Phenotypes

autosomal dominant hypophosphatemic rickets MONDO:0008660
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251

OMIM

605380

Clinvar variants

Variants in FGF23

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene