PPA2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Dilated and arrhythmogenic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Sudden death in young people

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• sudden cardiac arrest

  0.80

• neurodegenerative disease

  0.53

• hereditary disease

  0.51

• Abnormality of the cardiovascular system

  0.41

• dilated cardiomyopathy

  0.37

• smoking initiation

  0.37

• secondary malignant neoplasm

  0.31

• irritable bowel syndrome

  0.25

• multiple sclerosis

  0.24

• Alzheimer disease

  0.22

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

Protein function (UniProt)