TMEM127

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

• Multiple endocrine tumours

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Neuroendocrine cancer pertinent cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited renal cancer

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• pheochromocytoma

  0.80

• hereditary pheochromocytoma-paraganglioma

  0.71

• hereditary neoplastic syndrome

  0.57

• Inherited cancer-predisposing syndrome

  0.57

• malignant endocrine neoplasm

  0.37

• melanoma

  0.37

• carcinoma of liver and intrahepatic biliary tract

  0.37

• intestinal neuroendocrine tumor G1

  0.37

• Cowden syndrome 3

  0.37

• pheochromocytoma/paraganglioma syndrome 1

  0.37

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

Protein function (UniProt)