KRT10

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Epidermolysis bullosa and congenital skin fragility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ichthyosis and erythrokeratoderma

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Mosaic skin disorders - deep sequencing

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Palmoplantar keratoderma and erythrokeratodermas

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Palmoplantar keratodermas

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Pigmentary skin disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Rare genetic inflammatory skin disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Peeling skin syndrome

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• epidermolytic hyperkeratosis 2A, autosomal dominant

  0.79

• epidermolytic ichthyosis

  0.74

• congenital reticular ichthyosiform erythroderma

  0.73

• ichthyosis, annular epidermolytic 1

  0.65

• annular epidermolytic ichthyosis

  0.64

• epidermolytic hyperkeratosis 2B, autosomal recessive

  0.59

• pachyonychia congenita

  0.54

• epidermolytic palmoplantar keratoderma, 1

  0.54

• Palmoplantar keratoderma

  0.52

• hereditary palmoplantar keratoderma

  0.52

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

Protein function (UniProt)