Osteogenesis imperfecta
Gene: PHEX
PHEX (phosphate regulating endopeptidase homolog X-linked)
EnsemblGeneIds (GRCh38): ENSG00000102174
EnsemblGeneIds (GRCh37): ENSG00000102174
OMIM: 300550, Gene2Phenotype
PHEX is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000102174
EnsemblGeneIds (GRCh37): ENSG00000102174
OMIM: 300550, Gene2Phenotype
PHEX is in 8 panels
5 reviews
Raymond Dalgleish (University of Leicester)
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Chris Boustred (Genomics England)
Comment when marking as ready: Keep as Red as disagreement between reviewers and association is with Hypophosphataemic RicketsCreated: 10 May 2016, 3:19 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, 11:46 a.m.
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
X-linked hypophophataemiaCreated: 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)
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Expert
- Phenotypes
-
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- OMIM
- 300550
- Clinvar variants
- Variants in PHEX
- 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)PHEX was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
23 Jun 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PHEX was added to Osteogenesis Imperfecta panel. Sources: Expert