Skeletal dysplasia
Gene: COLEC11

COLEC11 (collectin subfamily member 11)
EnsemblGeneIds (GRCh38): ENSG00000118004
EnsemblGeneIds (GRCh37): ENSG00000118004
OMIM: 612502, Gene2Phenotype
COLEC11 is in 8 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

3MC not listed in SD nosology paper. Of 3 cases reported by Munye et al 2017, 0/3 have short staure. 2/3 have radioulnar synostosis. Of 10 cases (7 families) reported by Rooryck et al 2011, 6/10 have CSS, 4 have radioulnar synostosis or limited elblow extension. Green if considered an SD.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3MC syndrome 2 265050

Publications

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

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: COLEC11; Initial rating suggestion: Green if SD.
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 7 Jul 2016, 7:52 a.m.

Comment on list classification: Tier 2 gene for skeletal dysplasia (Ana Beleza)
Created: 7 Jul 2016, 7:48 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3MC syndrome 2 265050; Craniosynostosis (Wilkie)

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

3MC syndrome 2 265050

OMIM

612502

Clinvar variants

Variants in COLEC11

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes 3MC syndrome 2 265050 for gene: COLEC11 Publications for gene COLEC11 were changed from 21258343; 8933348; 2569826 to 21258343; 2569826; 8933348; 28301481

6 Mar 2019, Gel status: 3

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)

9 Aug 2016, Gel status: 4