Osteogenesis imperfectaGene: PHEX
Comment when marking as ready: Keep as Red as disagreement between reviewers and association is with Hypophosphataemic Rickets
Created: 10 May 2016, 3:19 p.m.
This gene is associated with Hypophosphataemic Rickets as opposed to the Osteogenesis Imperfecta phenotype.
Created: 14 Dec 2015, 11:46 a.m.
Created: 27 Nov 2015, 3:03 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Red List (Low Evidence).
PHEX was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
PHEX was added to Osteogenesis Imperfecta panel. Sources: Expert