CA8

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

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Cerebellar hypoplasia

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

+1 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Dysequilibrium syndrome

  0.75

• Rare hereditary ataxia

  0.68

• cerebellar ataxia, intellectual disability, and dysequilibrium

  0.38

• schizophrenia

  0.31

• bilirubin metabolism disease

  0.27

• neurodegenerative disease

  0.26

• skin disorder

  0.25

• psoriasis

  0.24

• alcohol drinking

  0.24

• stroke disorder

  0.22

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

Protein function (UniProt)