ALS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Amyotrophic lateral sclerosis/motor neuron disease

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric motor neuronopathies

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• infantile-onset ascending hereditary spastic paralysis

  0.76

• amyotrophic lateral sclerosis type 2, juvenile

  0.74

• juvenile primary lateral sclerosis

  0.74

• juvenile amyotrophic lateral sclerosis

  0.67

• hereditary disease

  0.47

• ALS2-related motor neuron disease

  0.45

• amyotrophic lateral sclerosis

  0.38

• Tip-toe gait

  0.34

• Abnormal central motor function

  0.33

• parasitic infectious disease

  0.28

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

Protein function (UniProt)