BSCL2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Familial diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• congenital generalized lipodystrophy type 2

  0.79

• Autosomal dominant spastic paraplegia type 17

  0.77

• neuronopathy, distal hereditary motor, type 5C

  0.76

• hereditary spastic paraplegia 17

  0.75

• severe neurodegenerative syndrome with lipodystrophy

  0.74

• Berardinelli-Seip congenital lipodystrophy

  0.70

• Charcot-Marie-Tooth disease type 2

  0.55

• hereditary disease

  0.49

• neuronopathy, distal hereditary motor, type 5A

  0.47

• lipodystrophy

  0.46

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

Protein function (UniProt)