Structural eye disease
Gene: COL8A2

COL8A2 (collagen type VIII alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000171812
EnsemblGeneIds (GRCh37): ENSG00000171812
OMIM: 120252, Gene2Phenotype
COL8A2 is in 3 panels

2 reviews

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

Red List (low evidence)

corneal dystrophy gene, no evidence for involvement in structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, Fuchs endothelial, 1; Corneal dystrophy, posterior polymorphous 2; 136800; 609140

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). corneal dystrophy gene, no evidence for involvement in structural eye disease
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, Fuchs endothelial, 1; Corneal dystrophy, posterior polymorphous 2; 136800; 609140

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS

Phenotypes

Corneal dystrophy, Fuchs endothelial, 1, 136800
Corneal dystrophy, posterior polymorphous 2, 609140

OMIM

120252

Clinvar variants

Variants in COL8A2

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: COL8A2 was added gene: COL8A2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: COL8A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL8A2 were set to Corneal dystrophy, Fuchs endothelial, 1, 136800; Corneal dystrophy, posterior polymorphous 2, 609140

Structural eye disease Gene: COL8A2