RNF113A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Fetal anomalies

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

• Intellectual disability

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• DDG2P

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

• White matter disorders and cerebral calcification - narrow panel

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

• trichothiodystrophy

  0.68

• neurodegenerative disease

  0.43

• Abnormal cerebral morphology

  0.26

• small cell lung carcinoma

  0.09

• metabolic syndrome

  0.07

• autosomal recessive spondylocostal dysostosis

  0.07

• spondylolisthesis

  0.06

• acute myeloid leukemia

  0.06

• Pilonidal sinus

  0.05

• Prata-Liberal-Goncalves syndrome

  0.05

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

Protein function (UniProt)