BFSP2:Ensemblv90

beaded filament structural protein 2
OMIM: 603212, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green BFSP2 in Cataract


Level 2: Ophthalmological disorders
Version 0.396

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 12, multiple types, MIM# 611597

Green BFSP2 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 12, multiple types, MIM# 611597

Green BFSP2 in Fetal anomalies


Version 1.482

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cataract 12, multiple types, MIM# 611597

Green BFSP2 in Cataract


Level 2: Ophthalmological disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Cataract 12, multiple types, MIM# 611597