SACS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Albinism or congenital nystagmus

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

+10 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Autosomal recessive spastic ataxia of Charlevoix-Saguenay

  0.82

• Charlevoix-Saguenay spastic ataxia

  0.76

• autosomal recessive limb-girdle muscular dystrophy type 2C

  0.58

• Spastic paraplegia

  0.57

• hereditary spastic paraplegia

  0.55

• hereditary disease

  0.54

• autosomal recessive limb-girdle muscular dystrophy

  0.51

• autosomal recessive spastic ataxia

  0.48

• Abnormal central motor function

  0.44

• hereditary ataxia

  0.36

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

Protein function (UniProt)