AVPR2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hereditary isolated diabetes insipidus

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

• Monogenic nephrogenic diabetes insipidus

  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)

• Familial Meniere Disease

• Intellectual disability

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

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

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

• Multi-organ autoimmune diabetes

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

Disease associations (Open Targets)

• nephrogenic diabetes insipidus

  0.75

• nephrogenic syndrome of inappropriate antidiuresis

  0.74

• Hyponatremia

  0.59

• diabetes insipidus

  0.59

• heart failure

  0.58

• autosomal dominant polycystic kidney disease

  0.57

• hemorrhage

  0.55

• enuresis

  0.55

• hepatorenal syndrome

  0.54

• Nasal congestion

  0.53

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

Protein function (UniProt)