CLCN5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cystic kidney disease

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Nephrocalcinosis or nephrolithiasis

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Proteinuric renal disease

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Renal tubulopathies

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Skeletal dysplasia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Unexplained kidney failure in young people

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Hypophosphataemia or rickets

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• Dent disease type 1

  0.85

• Dent disease

  0.80

• hypophosphatemic rickets, X-linked recessive

  0.76

• proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

  0.71

• hypophosphatemic rickets

  0.55

• hereditary disease

  0.49

• nephrotic syndrome

  0.42

• X-linked hypophosphatemia

  0.28

• X-linked dominant hypophosphatemic rickets

  0.28

• Low-molecular-weight proteinuria

  0.27

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

Protein function (UniProt)