Corneal abnormalities
Gene: DCNEnsemblGeneIds (GRCh38): ENSG00000011465
EnsemblGeneIds (GRCh37): ENSG00000011465
OMIM: 125255, Gene2Phenotype
DCN is in 3 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Discussed with Chris Campbell and Manchester GDL group and should be promoted to green.Created: 22 Feb 2017, 10 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Corneal dystrophy, congenital stromal 610048
- OMIM
- 125255
- Clinvar variants
- Variants in DCN
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Chris Campbell (GEL)09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DCN were set to Corneal dystrophy, congenital stromal 610048
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()DCN was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()DCN was added to Corneal abnormalitiespanel. Sources: Illumina TruGenome Clinical Sequencing Services