Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: P4HB

Green List (high evidence)

CSS is a feature. Two molecularly confirmed cases had the same variant Y393C (Rauch et al 2015). A third case has a deletion (Ouyang et al 2017). ; Review on behalf of Tracy Lester/Andrew Wilkie

Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cole-Carpenter syndrome 1

I don't know

Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13.

Created: 21 May 2019, 11:56 a.m.

Comment on publications: Rauch et al 2015 PMID: 25683117
Ouyang et al 2017 PMID: 29384951

Created: 2 May 2019, 9:39 p.m.

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: P4HB; Suggested initial gene rating: green

Created: 5 Mar 2019, 11:21 a.m.