SGCD

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Dilated Cardiomyopathy and conduction defects

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Dilated and arrhythmogenic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

• Hereditary neuropathy or pain disorder

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Disease associations (Open Targets)

• autosomal recessive limb-girdle muscular dystrophy type 2F

  0.77

• dilated cardiomyopathy 1L

  0.72

• autosomal recessive limb-girdle muscular dystrophy

  0.61

• familial isolated dilated cardiomyopathy

  0.54

• schizophrenia

  0.43

• dilated cardiomyopathy

  0.41

• Abnormality of the musculature

  0.41

• cellulitis

  0.40

• abscess

  0.40

• post-traumatic stress disorder

  0.39

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

Protein function (UniProt)