FLNB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Clefting

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

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Disease associations (Open Targets)

• Larsen syndrome

  0.83

• atelosteogenesis type I

  0.76

• spondylocarpotarsal synostosis syndrome

  0.76

• atelosteogenesis type III

  0.76

• Boomerang dysplasia

  0.72

• Autosomal dominant Larsen syndrome

  0.67

• Spondylocarpotarsal synostosis

  0.66

• Joubert syndrome and related disorders

  0.48

• open-angle glaucoma

  0.46

• hereditary disease

  0.42

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

Protein function (UniProt)