SDHD

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, maternally imprinted (paternal allele expressed)

• Inherited phaeochromocytoma and paraganglioma excluding NF1

  MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

• Inherited predisposition to GIST

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorder with complex II deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• pheochromocytoma/paraganglioma syndrome 1

  0.81

• hereditary pheochromocytoma-paraganglioma

  0.79

• paragangliomas with sensorineural hearing loss

  0.78

• Carney-Stratakis syndrome

  0.76

• pheochromocytoma

  0.75

• mitochondrial complex 2 deficiency, nuclear type 3

  0.69

• Cowden syndrome 3

  0.68

• mitochondrial complex II deficiency, nuclear type 1

  0.67

• Cowden disease

  0.61

• Inherited cancer-predisposing syndrome

  0.57

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

Protein function (UniProt)