Corneal abnormalities
Gene: COL8A2Comment on list classification: Expert review green, and more than 3 families/cases reported.Created: 20 Feb 2017, 5:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
fuchs endothelial corneal dystrophy - early onset
Publications
Variants in this GENE are reported as part of current diagnostic practice
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for COL8A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for COL8A2 were set to Corneal dystrophy, Fuchs endothelial, 1, 136800; early onset fuchs endothelial corneal dystrophy
Publications for COL8A2 were set to 11689488; 22002996; 15914606; 18024822;18464802
Publications for COL8A2 were set to 11689488; 22002996; 15914606;18024822
Publications for COL8A2 were set to 11689488; 22002996;15914606
Publications for COL8A2 were set to 11689488;22002996
Publications for COL8A2 were set to 11689488
COL8A2 was added to Corneal abnormalitiespanel. Source: GDL Corneal Abnormalities panel
COL8A2 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen