Corneal dystrophies

Gene: KRT12

Green List (high evidence)

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

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Meesmann corneal dystrophy 122100
OMIM
601687
Clinvar variants
Variants in KRT12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: KRT12 was added gene: KRT12 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: KRT12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT12 were set to 9171931; 10644419; 8759347 Phenotypes for gene: KRT12 were set to Meesmann corneal dystrophy 122100