CYP51A1

cytochrome P450 family 51 subfamily A member 1
OMIM: 601637, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green CYP51A1 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital cataract
  • infantile liver disease

Green CYP51A1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO#0033853