BFSP1

beaded filament structural protein 1
OMIM: 603307, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green BFSP1 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 33, multiple types, MIM# 611391

Green BFSP1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 33, multiple types, MIM# 611391