RPL15

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenia - NOT Fanconi anaemia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Haematological malignancies cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Haematological malignancies for rare disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Rare anaemia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Radial dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cytopenias and congenital anaemias

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal hydrops

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• Blackfan-Diamond anemia

  0.71

• Diamond-Blackfan anemia

  0.56

• Duchenne muscular dystrophy

  0.50

• influenza

  0.46

• acute myeloid leukemia with minimal differentiation

  0.46

• cystic fibrosis

  0.39

• edema

  0.37

• neuromuscular disease caused by qualitative or quantitative defects of dystrophin

  0.32

• Becker muscular dystrophy

  0.29

• intelligence

  0.27

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

Protein function (UniProt)