Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: COLEC11
CSS occurs in 20-30% of 3MC cases (which also includes COLEC10, MASP1). Rooryck describe 5 unrelated indivs with COLEC11 mutations and CSS, plus one with MASP1 and CSS. ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3MC syndrome 2, 265050
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: COLEC11; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Craniosynostosis not well documented but appears prevalent in this syndromeCreated: 14 Sep 2015, 1:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3MC syndrome type 2
Publications
Added phenotypes 3MC syndrome 2 265050 for gene: COLEC11
Source NHS GMS was added to COLEC11. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for COLEC11 were set to 265050
Publications for COLEC11 were set to 21258343
Mode of inheritance for COLEC11 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
COLEC11 was added to Craniosynostosis syndromespanel. Sources: Expert list