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Skeletal dysplasia

Gene: FGF23

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Osteomalacia, tumor-induced
  • Tumoral calcinosis, hyperphosphatemic, familial 211900
  • Hypophosphatemic rickets, autosomal dominant 193100
OMIM
605380
Clinvar variants
Variants in FGF23
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGF23 was added gene: FGF23 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGF23 were set to Osteomalacia, tumor-induced; Tumoral calcinosis, hyperphosphatemic, familial 211900; Hypophosphatemic rickets, autosomal dominant 193100