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  2. Corneal Dystrophy
  3. COL8A2
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Corneal Dystrophy

Gene: COL8A2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported.
Created: 5 Jan 2021, 7:54 p.m. | Last Modified: 5 Jan 2021, 7:54 p.m.
Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 5 Jan 2021, 7:54 p.m.
Last Modified: 5 Jan 2021, 7:54 p.m.
Panel version: 0.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800
  • Corneal dystrophy, posterior polymorphous 2, MIM# 609140
OMIM
120252
Clinvar variants
Variants in COL8A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col8a2 has been classified as Green List (High Evidence).

5 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL8A2 were changed from to Corneal dystrophy, Fuchs endothelial, 1, MIM# 136800; Corneal dystrophy, posterior polymorphous 2, MIM# 609140

5 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COL8A2 were set to

5 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL8A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL8A2 was added gene: COL8A2 was added to Corneal Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL8A2 was set to Unknown