MMP21

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Familial non syndromic congenital heart disease

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Laterality disorders and isomerism

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• visceral heterotaxy

  0.80

• Heterotaxia

  0.78

• Heterotaxy

  0.37

• Situs inversus totalis

  0.37

• congenital heart disease

  0.34

• hereditary disease

  0.19

• hepatocellular carcinoma

  0.09

• gastric cancer

  0.08

• hypoplastic left heart syndrome

  0.07

• neoplasm

  0.07

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

Protein function (UniProt)