SDHB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult solid tumours for rare disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Inherited phaeochromocytoma and paraganglioma

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited phaeochromocytoma and paraganglioma excluding NF1

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited predisposition to GIST

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Inherited renal cancer

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

+14 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• pheochromocytoma/paraganglioma syndrome 4

  0.82

• hereditary pheochromocytoma-paraganglioma

  0.81

• Carney-Stratakis syndrome

  0.79

• mitochondrial complex 2 deficiency, nuclear type 4

  0.78

• pheochromocytoma

  0.78

• gastrointestinal stromal tumor

  0.75

• Inherited cancer-predisposing syndrome

  0.58

• hereditary neoplastic syndrome

  0.57

• paraganglioma

  0.47

• Cowden disease

  0.42

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

Protein function (UniProt)