Calcium and Phosphate disorders
Gene: FGF23
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
Gene: fgf23 has been classified as Green List (High Evidence).
Phenotypes for gene: FGF23 were changed from to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
Publications for gene: FGF23 were set to
Mode of pathogenicity for gene: FGF23 was changed from to Other
Mode of inheritance for gene: FGF23 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: FGF23 was added gene: FGF23 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: FGF23 was set to Unknown