TCTN3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• orofaciodigital syndrome IV

  0.79

• Joubert syndrome 18

  0.77

• Orofaciodigital syndrome type 4

  0.77

• Joubert syndrome with orofaciodigital defect

  0.64

• Joubert syndrome

  0.62

• Joubert syndrome and related disorders

  0.51

• ciliopathy

  0.44

• diverticular disease

  0.42

• hereditary disease

  0.41

• Meckel syndrome

  0.38

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

Protein function (UniProt)