GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: COLEC11

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

1 review

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, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3MC syndrome 2 265050

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

3MC syndrome 2 265050

OMIM

612502

Clinvar variants

Variants in COLEC11

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: COLEC11 was added gene: COLEC11 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLEC11 were set to 3MC syndrome 2 265050

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: COLEC11