PLEC

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Congenital myaesthenic syndrome

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Epidermolysis bullosa

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Epidermolysis bullosa and congenital skin fragility

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• epidermolysis bullosa simplex 5B, with muscular dystrophy

  0.79

• autosomal recessive limb-girdle muscular dystrophy type 2Q

  0.77

• Epidermolysis bullosa simplex with muscular dystrophy

  0.76

• Epidermolysis bullosa simplex, Ogna type

  0.74

• Epidermolysis bullosa simplex with pyloric atresia

  0.73

• epidermolysis bullosa simplex 5C, with pyloric atresia

  0.73

• epidermolysis bullosa simplex with nail dystrophy

  0.69

• epidermolysis bullosa simplex 5A, Ogna type

  0.64

• epidermolysis bullosa simplex

  0.57

• neurodegenerative disease

  0.44

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

Protein function (UniProt)