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Mendeliome

Gene: DCN

Green List (high evidence)

DCN (decorin)
EnsemblGeneIds (GRCh38): ENSG00000011465
EnsemblGeneIds (GRCh37): ENSG00000011465
OMIM: 125255, Gene2Phenotype
DCN is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital stromal corneal dystrophy (CSCD) is a rare autosomal dominant eye disease characterized by diffuse bilateral corneal clouding with flake-like whitish opacities throughout the stroma. These small flakes and spots are present at or shortly after birth and are thought to become more numerous with age. Some affected individuals may have strabismus or nystagmus. Normal corneal thickness, horizontal diameter, and endothelial function distinguish the condition from other congenital corneal opacifications. At least 4 unrelated families reported.
Created: 5 Jan 2021, 8:04 p.m. | Last Modified: 5 Jan 2021, 8:04 p.m.
Panel Version: 0.5968

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, congenital stromal, MIM# 610048

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, congenital stromal, MIM# 610048
OMIM
125255
Clinvar variants
Variants in DCN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dcn has been classified as Green List (High Evidence).

5 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCN were changed from to Corneal dystrophy, congenital stromal, MIM# 610048

5 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DCN were set to

5 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DCN was added gene: DCN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DCN was set to Unknown