RTEL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult solid tumours cancer susceptibility

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood interstitial lung disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood solid tumours

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• COVID-19 research

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Cytopenia - NOT Fanconi anaemia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Familial pulmonary fibrosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• dyskeratosis congenita, autosomal recessive 5

  0.84

• dyskeratosis congenita

  0.82

• pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

  0.81

• idiopathic pulmonary fibrosis

  0.73

• pulmonary fibrosis

  0.55

• pulmonary fibrosis and/or bone marrow failure, telomere-related

  0.50

• Hoyeraal-Hreidarsson syndrome

  0.46

• acute myeloid leukemia with minimal differentiation

  0.46

• telomere syndrome

  0.45

• dyskeratosis congenita, X-linked

  0.42

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

Protein function (UniProt)