HMBS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute intermittent porphyria

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy or pain disorder

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Non-acute porphyrias

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• acute intermittent porphyria

  0.86

• encephalopathy, porphyria-related

  0.78

• leukoencephalopathy, porphyria-related

  0.77

• neurodegenerative disease

  0.53

• Leukoencephalopathy

  0.50

• coronary artery disorder

  0.41

• Abdominal pain

  0.40

• aceruloplasminemia

  0.38

• cerebellar ataxia

  0.37

• hereditary peripheral neuropathy

  0.37

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

Protein function (UniProt)