BRWD3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

  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

• Intellectual disability

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

• Fetal anomalies

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

• Rare syndromic craniosynostosis or isolated multisuture synostosis

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

Disease associations (Open Targets)

• intellectual disability, X-linked 93

  0.75

• hereditary disease

  0.51

• Intellectual disability

  0.46

• X-linked syndromic intellectual disability

  0.40

• Macrocephaly

  0.37

• X-linked non-syndromic intellectual disability

  0.37

• complex neurodevelopmental disorder

  0.37

• angina pectoris

  0.32

• autosomal dominant compelling helio-ophthalmic outburst syndrome

  0.31

• neurodevelopmental disorder

  0.27

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

Protein function (UniProt)