EPG5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• Congenital myopathy

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Dilated Cardiomyopathy and conduction defects

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Vici syndrome

  0.85

• neurodegenerative disease

  0.53

• hereditary disease

  0.52

• syndromic retinitis pigmentosa

  0.40

• cardiomyopathy

  0.26

• liver disorder

  0.26

• celiac disease

  0.25

• paralytic strabismus

  0.24

• microcephaly

  0.16

• Global developmental delay

  0.11

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

Protein function (UniProt)