CSS occurs in 20-30% of 3MC cases (which also includes COLEC11, MASP1). Three families reported by Muye et al 2017 - CSS not documented in paper, but protein shown to play role in normal craniofacial dev. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
MC syndrome 3 - 248340
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: COLEC10; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes MC syndrome 3 248340 for gene: COLEC10
gene: COLEC10 was added gene: COLEC10 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: COLEC10 was set to