REN

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric disorders - additional genes

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Renal tubulopathies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Tubulointerstitial kidney disease

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Ductal plate malformation

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• familial juvenile hyperuricemic nephropathy type 2

  0.76

• renal tubular dysgenesis

  0.74

• renal tubular dysgenesis of genetic origin

  0.73

• Hyperuricemia - anemia - renal failure

  0.66

• hypertensive disorder

  0.64

• Hypertension

  0.62

• stroke disorder

  0.47

• essential hypertension

  0.43

• hereditary disease

  0.42

• cardiovascular disorder

  0.38

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

Protein function (UniProt)