Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: COLEC11EnsemblGeneIds (GRCh38): ENSG00000118004
EnsemblGeneIds (GRCh37): ENSG00000118004
OMIM: 612502, Gene2Phenotype
COLEC11 is in 8 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Andrew Wilkie (University of Oxford)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- 265050
- 3MC syndrome 2 265050
- OMIM
- 612502
- Clinvar variants
- Variants in COLEC11
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes 3MC syndrome 2 265050 for gene: COLEC11
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to COLEC11. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for COLEC11 were set to 265050
Set publications
Richard Scott (Genomics England Curator)Publications for COLEC11 were set to 21258343
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for COLEC11 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)COLEC11 was added to Craniosynostosis syndromespanel. Sources: Expert list