BFSP2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• cataract 12 multiple types

  0.72

• cataract

  0.62

• Partial congenital cataract

  0.49

• early-onset non-syndromic cataract

  0.40

• Cataract with Y-shaped suture opacities

  0.40

• pulverulent cataract

  0.39

• early-onset sutural cataract

  0.37

• lens disorder

  0.35

• Nystagmus

  0.34

• Strabismus

  0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diseases associated with BFSP2

Curated MONDO disease pages that list BFSP2 among their top associated genes.

• cataractRare