Structural eye disease
Gene: UBIAD1

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

DB corneal dystrophy gene, no evidence for involvement in structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, Schnyder type; 121800

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB corneal dystrophy gene, no evidence for involvement in structural eye disease
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, Schnyder type; 121800

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS

Phenotypes

Corneal dystrophy, Schnyder type, 121800

OMIM

611632

Clinvar variants

Variants in UBIAD1

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: UBIAD1 was added gene: UBIAD1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: UBIAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: UBIAD1 were set to Corneal dystrophy, Schnyder type, 121800

Structural eye disease Gene: UBIAD1