UBIAD1

UbiA prenyltransferase domain containing 1
OMIM: 611632, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green UBIAD1 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.10

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

Green UBIAD1 in Mendeliome


Version 1.1891

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

Green UBIAD1 in Vitamin metabolism disorders


Level 2: Metabolic disorders
Version 1.6

Component of the following Super Panels:

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