Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: PHEX

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

• 17551721
• 19242361

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.

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.

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

• 19242361
• 17551721