Skeletal dysplasia
Gene: COLEC11
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3MC syndrome 2 265050
Publications
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.
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.
Tier 2Created: 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
Added phenotypes 3MC syndrome 2 265050 for gene: COLEC11 Publications for gene COLEC11 were changed from 21258343; 8933348; 2569826 to 21258343; 2569826; 8933348; 28301481
Source NHS GMS was added to COLEC11. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for COLEC11 were set to 3MC syndrome 2 265050
Phenotypes for COLEC11 were set to 3MC syndrome 2 265050
Phenotypes for COLEC11 were set to 3MC syndrome 2 265050
This gene has been classified as Green List (High Evidence).
COLEC11 was added to Unexplained skeletal dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen
Publications for COLEC11 were set to 21258343; 8933348; 2569826
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
COLEC11 was created by anabeleza
COLEC11 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list