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
Cole-Carpenter syndrome 1
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.
Gene: p4hb has been classified as Green List (High Evidence).
Phenotypes for gene: P4HB were changed from Cole-Carpenter syndrome 1 to Cole-Carpenter syndrome 1 112240
Mode of inheritance for gene: P4HB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cole-Carpenter syndrome 1 for gene: P4HB
Publications for gene: P4HB were set to
gene: P4HB was added gene: P4HB was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: P4HB was set to