WASHC5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hydrocephalus

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• hereditary spastic paraplegia 8

  0.79

• Autosomal dominant spastic paraplegia type 8

  0.75

• Ritscher-Schinzel syndrome 1

  0.72

• 3C syndrome

  0.61

• Ritscher-Schinzel syndrome

  0.60

• hereditary disease

  0.49

• hereditary spastic paraplegia

  0.35

• Lower limb spasticity

  0.26

• Spastic paraplegia

  0.17

• Muscle weakness

  0.15

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

Protein function (UniProt)