SCYL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

  0.77

• hereditary disease

  0.53

• autoimmune disorder of central nervous system

  0.24

• Parkinson disease

  0.22

• Alzheimer disease

  0.21

• neurodegenerative disease

  0.21

• lysosomal storage disease

  0.21

• multiple sclerosis

  0.21

• acute liver failure

  0.19

• cholestasis

  0.19

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

Protein function (UniProt)