Corneal dystrophies

Gene: KERA

Green List (high evidence)

KERA (keratocan)
EnsemblGeneIds (GRCh38): ENSG00000139330
EnsemblGeneIds (GRCh37): ENSG00000139330
OMIM: 603288, Gene2Phenotype
KERA 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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Cornea plana 2 217300
OMIM
603288
Clinvar variants
Variants in KERA
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: KERA was added gene: KERA was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KERA were set to 23834557; 11726611; 10802664 Phenotypes for gene: KERA were set to Cornea plana 2 217300