KRT12

keratin 12
OMIM: 601687, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green KRT12 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.13

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meesmann corneal dystrophy, 122100
Green KRT12 in Corneal dystrophy


Version 3.10
Latest signed off version: v3.2 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Meesmann corneal dystrophy 122100
Red KRT12 in Structural eye disease


Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Meesmann corneal dystrophy, 122100