FAH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Hypophosphataemia or rickets

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal cholestasis

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• tyrosinemia type I

  0.85

• Tyrosinemia type 1

  0.81

• tyrosinemia

  0.52

• hereditary disease

  0.47

• cholestasis

  0.46

• tyrosinemia type II

  0.34

• T-substance anomaly

  0.34

• beta-mannosidosis

  0.27

• type 2 diabetes mellitus

  0.15

• hepatoblastoma

  0.11

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