WDR35

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic dystrophies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• cranioectodermal dysplasia

  0.82

• Short rib-polydactyly syndrome, Verma-Naumoff type

  0.82

• short-rib thoracic dysplasia 7/20 with polydactyly, digenic

  0.50

• Jeune syndrome

  0.49

• hereditary disease

  0.38

• short rib-polydactyly syndrome

  0.37

• Ellis-van Creveld syndrome

  0.31

• Ellis Van Creveld syndrome

  0.31

• frozen shoulder

  0.24

• Abnormality of the skeletal system

  0.24

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

Protein function (UniProt)