SDHAF2

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, imprinted status unknown

• Inherited phaeochromocytoma and paraganglioma excluding NF1

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Multiple endocrine tumours

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Neuroendocrine cancer pertinent cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Likely inborn error of metabolism

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Mitochondrial disorder with complex II deficiency

  Unknown

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Disease associations (Open Targets)

• hereditary pheochromocytoma-paraganglioma

  0.77

• pheochromocytoma/paraganglioma syndrome 2

  0.67

• hereditary neoplastic syndrome

  0.55

• Inherited cancer-predisposing syndrome

  0.55

• paraganglioma

  0.51

• ovarian endometrioid adenocarcinoma with squamous differentiation

  0.37

• neuroendocrine carcinoma

  0.37

• malignant endocrine neoplasm

  0.37

• bile duct carcinoma

  0.37

• carcinoma of liver and intrahepatic biliary tract

  0.37

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

Protein function (UniProt)