COASY

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• neurodegeneration with brain iron accumulation 6

  0.81

• neurodegeneration with brain iron accumulation

  0.75

• Non-syndromic pontocerebellar hypoplasia

  0.74

• COASY protein-associated neurodegeneration

  0.68

• neurodegenerative disease

  0.56

• arthrogryposis

  0.37

• lysosomal storage disease

  0.37

• neurodegeneration with brain iron accumulation 2B

  0.34

• isolated cerebellar hypoplasia/agenesis

  0.33

• type 2 diabetes mellitus

  0.23

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

Protein function (UniProt)