PKHD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Cystic kidney disease

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Ductal plate malformation

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Polycystic liver disease

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• polycystic kidney disease 4

  0.77

• autosomal recessive polycystic kidney disease

  0.74

• Meckel syndrome

  0.58

• Isolated polycystic liver disease

  0.55

• cystic kidney disease

  0.54

• autosomal dominant polycystic liver disease

  0.54

• hereditary disease

  0.53

• Caroli disease

  0.51

• Renal cyst

  0.51

• Biliary tract abnormality

  0.51

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

Protein function (UniProt)