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 Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 8.1
Latest signed off version: v8.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Autosomal recessive cataract due to abnormal sterol metabolism
Tags
  • gene-checked
Red CYP51A1 in Structural eye disease


Level 2: Ophthalmology
Version 5.6
Latest signed off version: v5.0 (6 May 2026)

review Not set
Sources
  • NHS GMS