TERC

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood interstitial lung disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood solid tumours

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• COVID-19 research

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cytopenia - NOT Fanconi anaemia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial pulmonary fibrosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Haematological malignancies cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• dyskeratosis congenita

  0.74

• idiopathic aplastic anemia

  0.47

• Bone marrow hypocellularity

  0.42

• inherited bone marrow failure syndrome

  0.42

• Hoyeraal-Hreidarsson syndrome

  0.42

• aplastic anemia

  0.38

• acute myeloid leukemia with minimal differentiation

  0.37

• cancer

  0.09

• non-small cell lung carcinoma

  0.09

• hepatocellular carcinoma

  0.08

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