Structural eye disease
Gene: COL11A2

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

no evidence of involvement in eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). no evidence of involvement in eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Eye Disorders

OMIM

120290

Clinvar variants

Variants in COL11A2

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to COL11A2. Mode of inheritance for gene COL11A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: COL11A2 was added gene: COL11A2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: COL11A2 was set to Phenotypes for gene: COL11A2 were set to Eye Disorders

Structural eye disease Gene: COL11A2