COL7A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Epidermolysis bullosa

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Epidermolysis bullosa and congenital skin fragility

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Gastrointestinal epithelial barrier disorders

  BIALLELIC, autosomal or pseudoautosomal

• Infantile enterocolitis & monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• recessive dystrophic epidermolysis bullosa

  0.86

• generalized dominant dystrophic epidermolysis bullosa

  0.84

• dystrophic epidermolysis bullosa pruriginosa

  0.82

• transient bullous dermolysis of the newborn

  0.78

• pretibial dystrophic epidermolysis bullosa

  0.77

• Dystrophic epidermolysis bullosa

  0.76

• nonsyndromic congenital nail disorder 8

  0.74

• recessive dystrophic epidermolysis bullosa inversa

  0.67

• Isolated nail anomaly

  0.60

• epidermolysis bullosa dystrophica

  0.58

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

Protein function (UniProt)