SELENON

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Congenital myopathy

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• rigid spine muscular dystrophy 1

  0.82

• classic multiminicore myopathy

  0.71

• congenital fiber-type disproportion myopathy

  0.65

• SELENON-related myopathy

  0.56

• Joubert syndrome and related disorders

  0.49

• hereditary disease

  0.47

• muscular dystrophy

  0.43

• myopathy

  0.39

• rigid spine syndrome

  0.38

• desmin-related myopathy with Mallory body-like inclusions

  0.37

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

Protein function (UniProt)