Osteogenesis imperfecta
Gene: FGF23
FGF23 (fibroblast growth factor 23)
EnsemblGeneIds (GRCh38): ENSG00000118972
EnsemblGeneIds (GRCh37): ENSG00000118972
OMIM: 605380, Gene2Phenotype
FGF23 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000118972
EnsemblGeneIds (GRCh37): ENSG00000118972
OMIM: 605380, Gene2Phenotype
FGF23 is in 9 panels
4 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Phenotypes
hypophosphatemic rickets
Publications
Variants in this GENE are reported as part of current diagnostic practice
Chris Boustred (Genomics England)
Comment when marking as ready: Keep as red as due to phenotype mismatchCreated: 10 May 2016, 12:53 p.m.
Christine Burren (University Hospitals Bristol NHS Foundation Trust)
This gene is associated with Hypophosphataemic Rickets as opposed to the Osteogenesis Imperfecta phenotype.Created: 14 Dec 2015, 10:20 a.m.
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Hereditary hypophosphataemic ricketsCreated: 27 Nov 2015, 3:03 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- OMIM
- 605380
- Clinvar variants
- Variants in FGF23
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Red List (Low Evidence).
23 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)FGF23 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory