Corneal Dystrophy
Gene: UBIAD1

UBIAD1 (UbiA prenyltransferase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000120942
EnsemblGeneIds (GRCh37): ENSG00000120942
OMIM: 611632, Gene2Phenotype
UBIAD1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterised by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering.

More than 15 unrelated families reported, functional data.
Created: 6 Jan 2021, 3:29 a.m. | Last Modified: 6 Jan 2021, 3:29 a.m.

Panel Version: 0.74

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, Schnyder type, MIM# 121800

Publications

Created: 6 Jan 2021, 3:29 a.m.
Last Modified: 6 Jan 2021, 3:29 a.m.
Panel version: 0.74

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Corneal dystrophy, Schnyder type, MIM# 121800

OMIM

611632

Clinvar variants

Variants in UBIAD1

Penetrance

None

Publications

Panels with this gene