Craniosynostosis

Gene: COLEC10

Red List (low evidence)

COLEC10 (collectin subfamily member 10)
EnsemblGeneIds (GRCh38): ENSG00000184374
EnsemblGeneIds (GRCh37): ENSG00000184374
OMIM: 607620, Gene2Phenotype
COLEC10 is in 7 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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

Phenotypes
MC syndrome 3 - 248340

Eleanor Williams (Genomics England Curator)

I don't know

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.

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