UBIAD1

UbiA prenyltransferase domain containing 1
OMIM: 611632, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green UBIAD1 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.13

review 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
Green UBIAD1 in Corneal dystrophy


Version 3.10
Latest signed off version: v3.2 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, Schnyder type 121800
Red UBIAD1 in Structural eye disease


Version 3.79
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Corneal dystrophy, Schnyder type, 121800