SPTLC2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial dysautonomia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Likely inborn error of metabolism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Pain syndromes

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Undiagnosed metabolic disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• hereditary sensory and autonomic neuropathy type 1

  0.77

• neurodegenerative disease

  0.56

• Charcot-Marie-Tooth disease

  0.49

• Familial dysautonomia

  0.46

• Riley-Day syndrome

  0.46

• amyotrophic lateral sclerosis

  0.39

• Alzheimer disease

  0.38

• hereditary sensory and autonomic neuropathy

  0.37

• Parkinson disease

  0.37

• multiple sclerosis

  0.37

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

Protein function (UniProt)