Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: PHEX
Cranial abnormalities can include CSS. ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 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
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: greenCreated: 5 Mar 2019, 11:21 a.m.
Comment when marking as ready: Craniosynostosis occurs in ~40% of cases; other clinical and biochemical features required to confirm diagnosisCreated: 1 Feb 2016, 12:32 p.m.
Craniosynostosis occurs in ~40% of cases; other clinical and biochemical features required to confirm diagnosisCreated: 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
Source NHS GMS was added to PHEX. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for PHEX were set to 17551721; 19242361
This gene has been classified as Green List (High Evidence).
PHEX was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review