Corneal dystrophies

Gene: UBIAD1

Green List (high evidence)

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

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Manchester panel
Created: 1 Apr 2019, 2:30 p.m.

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, Schnyder type 121800
OMIM
611632
Clinvar variants
Variants in UBIAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: UBIAD1 was added gene: UBIAD1 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: UBIAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBIAD1 were set to 17962451; 18176953; 17668063 Phenotypes for gene: UBIAD1 were set to Corneal dystrophy, Schnyder type 121800