NKX2-5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Dilated and arrhythmogenic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial non syndromic congenital heart disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Progressive cardiac conduction disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Congenital hypothyroidism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Laterality disorders and isomerism

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• Atrial septal defect - atrioventricular conduction defects

  0.78

• atrial septal defect 7

  0.76

• Tetralogy of Fallot

  0.76

• atrial septal defect

  0.73

• hypothyroidism, congenital, nongoitrous, 5

  0.71

• ventricular septal defect 3

  0.66

• hypoplastic left heart syndrome 2

  0.62

• conotruncal heart malformations

  0.60

• Abnormality of the cardiovascular system

  0.54

• atrial fibrillation

  0.54

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

Protein function (UniProt)