Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: COLEC10
COLEC10 (collectin subfamily member 10)
EnsemblGeneIds (GRCh38): ENSG00000184374
EnsemblGeneIds (GRCh37): ENSG00000184374
OMIM: 607620, Gene2Phenotype
COLEC10 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000184374
EnsemblGeneIds (GRCh37): ENSG00000184374
OMIM: 607620, Gene2Phenotype
COLEC10 is in 6 panels
2 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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 WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MC syndrome 3 - 248340
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: COLEC10; Suggested initial gene rating: amberCreated: 5 Mar 2019, 11:21 a.m.
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- MC syndrome 3 248340
- OMIM
- 607620
- Clinvar variants
- Variants in COLEC10
- Penetrance
- None
- Panels with this gene
History Filter Activity
11 May 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes MC syndrome 3 248340 for gene: COLEC10
5 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: COLEC10 was added gene: COLEC10 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: COLEC10 was set to