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 1.12

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 dystrophies


Version 1.13
Latest signed off version: v1.2 (19 Feb 2020)

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 1.132
Latest signed off version: v1.3 (4 Mar 2020)

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