PHEX

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

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

• Hypophosphataemia or rickets

  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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Fetal anomalies

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

• Monogenic hearing loss

• Osteogenesis imperfecta

Disease associations (Open Targets)

• X-linked hypophosphatemia

  0.85

• X-linked dominant hypophosphatemic rickets

  0.78

• hypophosphatemic rickets

  0.64

• Dent disease

  0.39

• Bowing of the legs

  0.34

• Lower limb pain

  0.34

• autosomal dominant hypophosphatemic rickets

  0.29

• response to vaccine

  0.27

• hypophosphatemia

  0.26

• vitamin D-dependent rickets, type 2

  0.26

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

Protein function (UniProt)