Craniosynostosis

Gene: COLEC11

Green List (high evidence)

COLEC11 (collectin subfamily member 11)
EnsemblGeneIds (GRCh38): ENSG00000118004
EnsemblGeneIds (GRCh37): ENSG00000118004
OMIM: 612502, Gene2Phenotype
COLEC11 is in 7 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Wilkie
Created: 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)

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; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Craniosynostosis not well documented but appears prevalent in this syndrome
Created: 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

11 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes 3MC syndrome 2 265050 for gene: COLEC11

5 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)

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for COLEC11 were set to 265050

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for COLEC11 were set to 21258343

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for COLEC11 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

COLEC11 was added to Craniosynostosis syndromespanel. Sources: Expert list