Corneal abnormalities
Gene: UBIAD1

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green and more than 3 cases/families reported with different variants.
Created: 15 Feb 2017, 5:04 p.m.

Created: 15 Feb 2017, 5:04 p.m.

Panel version: 0.35

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Schnyder corneal dystrophy , AD, early onset

Publications

17962451

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

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
GDL Corneal Abnormalities panel
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Schnyder Crystalline Corneal Dystrophy
Corneal dystrophy, Schnyder type 121800
Schnyder corneal dystrophy , AD, early onset

OMIM

611632

Clinvar variants

Variants in UBIAD1

Penetrance

Complete

Publications

17962451

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

15 Feb 2017, Gel status: 4