Hypophosphataemia or rickets
Gene: FGF23
Variants in FGF23 result in the stabilization of the full-length active form of the protein leading to prolonged or enhanced FGF23 action.Created: 28 Jan 2019, 10:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypophosphatemia; rickets
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Jan 2019, 11:44 a.m.
FGF23 is a green gene on the Skeletal dysplasia panel (Version 1.129).Created: 30 Nov 2018, 3 p.m.
Comment when marking as ready: Autosomal dominant hypophosphataemic rickets (ADHR) is confirmed to be associated with FGF23 on OMIM but not Gene2Phenotype. It is a green gene on the Skeletal hyperplasia panel. There is one family reported with a variant in FGF23 diagnosed with ADHR (PMID: 28383812). Another study reported two different variants in FgF23 in two unrelated families diagnosed with ADHR (PMID:11062477). Mouse model with conditional deletion of FGF23 (PMID: 26792657) further supports that variants in FGF23 cause ADHR.Created: 28 Nov 2018, 2 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ivone Leong: Comment when marking as ready:
Gene: fgf23 has been classified as Green List (High Evidence).
Publications for gene: FGF23 were set to
gene: FGF23 was added gene: FGF23 was added to Hypophosphataemia or rickets. Sources: Expert list,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF23 were set to Hypophosphatemic rickets, autosomal dominant (193100)