Corneal abnormalities
Gene: KRT12

KRT12 (keratin 12)
EnsemblGeneIds (GRCh38): ENSG00000187242
EnsemblGeneIds (GRCh37): ENSG00000187242
OMIM: 601687, Gene2Phenotype
KRT12 is in 3 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green, and more than 3 cases/families reported for different variants.
Created: 20 Feb 2017, 5:57 p.m.

Created: 20 Feb 2017, 5:57 p.m.

Panel version: 0.94

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Meesman corneal dystrophy, AD, paediatric

Publications

9171831

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

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
GDL Corneal Abnormalities panel
Radboud University Medical Center, Nijmegen

Phenotypes

Meesmann corneal dystrophy, 122100

OMIM

601687

Clinvar variants

Variants in KRT12

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

20 Feb 2017, Gel status: 4