Corneal dystrophies

Gene: KRT3

Green List (high evidence)

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

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Manchester panel
Created: 1 Apr 2019, 2:30 p.m.

Publications

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

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
148043
Clinvar variants
Variants in KRT3
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: KRT3 was added gene: KRT3 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: KRT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT3 were set to 9171831; 188806880; 16227835 Phenotypes for gene: KRT3 were set to Meesmann corneal dystrophy 122100