Corneal dystrophies

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 3 panels

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Manchester panel
Created: 1 Apr 2019, 2:30 p.m.

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 1 136800
  • Corneal dystrophy, posterior polymorphous 2 609140
OMIM
120252
Clinvar variants
Variants in COL8A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: COL8A2 was added gene: COL8A2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: COL8A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL8A2 were set to 11689488 Phenotypes for gene: COL8A2 were set to Corneal dystrophy, Fuchs endothelial, 1 136800; Corneal dystrophy, posterior polymorphous 2 609140