GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: COL11A1

COL11A1 (collagen type XI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 16 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

In type 2 collagen gp of SD. 228520 is AR, other disorders are AD.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Fibrochondrogenesis 1 228520; Marshall syndrome 154780; Stickler syndrome, type II 604841

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

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Stickler syndrome, type II 604841
Marshall syndrome 154780
Fibrochondrogenesis 1 228520

OMIM

120280

Clinvar variants

Variants in COL11A1

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: COL11A1 was added gene: COL11A1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL11A1 were set to Stickler syndrome, type II 604841; Marshall syndrome 154780; Fibrochondrogenesis 1 228520

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: COL11A1