Corneal Dystrophy
Gene: KRT3

KRT3 (keratin 3)
EnsemblGeneIds (GRCh38): ENSG00000186442
EnsemblGeneIds (GRCh37): ENSG00000186442
OMIM: 148043, Gene2Phenotype
KRT3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Meesmann corneal dystrophy-2 (MECD2) is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts. Although the disease is generally mild and affected individuals are often asymptomatic, some suffer from recurrent erosions leading to lacrimation, photophobia, and deterioration in visual acuity.

At least 4 unrelated families reported.
Created: 5 Jan 2021, 8:13 p.m. | Last Modified: 5 Jan 2021, 8:13 p.m.

Panel Version: 0.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Meesmann corneal dystrophy 2, MIM# 618767

Publications

Created: 5 Jan 2021, 8:13 p.m.
Last Modified: 5 Jan 2021, 8:13 p.m.
Panel version: 0.45

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Meesmann corneal dystrophy 2, MIM# 618767

OMIM

148043

Clinvar variants

Variants in KRT3

Penetrance

None

Publications

Panels with this gene