Osteogenesis imperfectaGene: FGF23
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Keep as red as due to phenotype mismatch
Created: 10 May 2016, 12:53 p.m.
This gene is associated with Hypophosphataemic Rickets as opposed to the Osteogenesis Imperfecta phenotype.
Created: 14 Dec 2015, 10:20 a.m.
Hereditary hypophosphataemic rickets
Created: 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
This gene has been classified as Red List (Low Evidence).
FGF23 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory