Craniosynostosis

Gene: PHEX

Green List (high evidence)

PHEX (phosphate regulating endopeptidase homolog X-linked)
EnsemblGeneIds (GRCh38): ENSG00000102174
EnsemblGeneIds (GRCh37): ENSG00000102174
OMIM: 300550, Gene2Phenotype
PHEX is in 8 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Cranial abnormalities can include CSS. ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.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)

Phenotypes
X-linked hypophosphataemic rickets

Publications

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PHEX; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Richard Scott (Genomics England Curator)

Comment when marking as ready: Craniosynostosis occurs in ~40% of cases; other clinical and biochemical features required to confirm diagnosis
Created: 1 Feb 2016, 12:32 p.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Craniosynostosis occurs in ~40% of cases; other clinical and biochemical features required to confirm diagnosis
Created: 15 Sep 2015, 9:16 a.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)

Phenotypes
X-linked hypophosphataemic rickets

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • X-linked hypophosphataemic rickets
OMIM
300550
Clinvar variants
Variants in PHEX
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to PHEX. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for PHEX were set to 17551721; 19242361

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Sep 2015, Gel status: 0

Added New Source

Andrew Wilkie (University of Oxford)

PHEX was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review