CWF19L1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Cerebellar hypoplasia

  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

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• autosomal recessive spinocerebellar ataxia 17

  0.78

• autosomal recessive cerebellar ataxia

  0.37

• Intellectual disability

  0.26

• pericarditis

  0.24

• psoriasis

  0.20

• attention deficit-hyperactivity disorder

  0.20

• cholelithiasis

  0.20

• type 2 diabetes mellitus

  0.20

• hereditary disease

  0.19

• intelligence

  0.19

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