UBIAD1:Ensemblv115

UbiA prenyltransferase domain containing 1
OMIM: 611632, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green UBIAD1 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Corneal dystrophy, Schnyder type, MIM# 121800

Green UBIAD1 in Vitamin metabolism disorders


Level 2: Metabolic disorders
Version 2.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Schnyder corneal dystrophy MONDO:0007374 MIM#611632
  • Other disorders of vitamin metabolism