WDR47

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodevelopmental disorder

  0.58

• neurodegenerative disease

  0.48

• epilepsy

  0.37

• Intellectual disability

  0.37

• nephritis

  0.24

• Nephropathy

  0.24

• microcephaly

  0.19

• complex neurodevelopmental disorder

  0.12

• hypothyroidism

  0.09

• aortic valve stenosis

  0.09

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

Diseases associated with WDR47

Curated MONDO disease pages that list WDR47 among their top associated genes.

• neurodevelopmental disorderRare