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Osteogenesis imperfecta

Gene: PHEX

Red List (low evidence)

PHEX (phosphate regulating endopeptidase homolog X-linked)
EnsemblGeneIds (GRCh38): ENSG00000102174
EnsemblGeneIds (GRCh37): ENSG00000102174
OMIM: 300550, Gene2Phenotype
PHEX is in 7 panels

5 reviews

Raymond Dalgleish (University of Leicester)

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Chris Boustred (Genomics England)

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.

Christine Burren (University Hospitals Bristol NHS Foundation Trust)

Red List (low evidence)

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)

Green List (high evidence)

X-linked hypophophataemia
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)

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