SPEG

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital myopathy

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Dilated Cardiomyopathy and conduction defects

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Dilated and arrhythmogenic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• myopathy, centronuclear, 5

  0.78

• autosomal recessive centronuclear myopathy

  0.65

• dilated cardiomyopathy

  0.52

• Abnormality of the skeletal system

  0.45

• atrial fibrillation

  0.34

• neurodegenerative disease

  0.29

• diabetes mellitus

  0.20

• hereditary disease

  0.20

• congenital myopathy

  0.12

• myopathy, centronuclear, 2

  0.12

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

Protein function (UniProt)