GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: COL11A2

COL11A2 (collagen type XI alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 15 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

In type 2 collagen gp of SD. Only 2 cases reported with variants in Fibrochondrogenesis 2 614524 - one AR, one AD. Amber for this phenotype. Green for other recessive phenotypes.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fibrochondrogenesis 2 614524?; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type III 184840

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

Stickler syndrome, type III 184840
Otospondylomegaepiphyseal dysplasia 215150
Fibrochondrogenesis 2 614524?

OMIM

120290

Clinvar variants

Variants in COL11A2

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: COL11A2 was added gene: COL11A2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL11A2 were set to Stickler syndrome, type III 184840; Otospondylomegaepiphyseal dysplasia 215150; Fibrochondrogenesis 2 614524?

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: COL11A2