RPL10

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Differences in sex development

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• IUGR and IGF abnormalities

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Severe microcephaly

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Undiagnosed metabolic disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• intellectual disability, X-linked, syndromic, 35

  0.78

• X-linked intellectual disability - psychosis - macroorchidism

  0.55

• Duchenne muscular dystrophy

  0.50

• influenza

  0.46

• plasma cell myeloma

  0.44

• cystic fibrosis

  0.39

• T-cell acute lymphoblastic leukemia

  0.37

• autism

  0.37

• endometrial endometrioid adenocarcinoma

  0.37

• X-linked syndromic intellectual disability

  0.37

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

Protein function (UniProt)