TMEM67

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bardet Biedl syndrome

  BIALLELIC, autosomal or pseudoautosomal

• Cystic kidney disease

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Ductal plate malformation

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Joubert syndrome with hepatic defect

  0.85

• nephronophthisis 11

  0.82

• Meckel syndrome, type 3

  0.82

• Joubert syndrome 6

  0.82

• Meckel syndrome

  0.77

• Joubert syndrome

  0.77

• RHYNS syndrome

  0.75

• Bardet-Biedl syndrome 14

  0.73

• Senior-Boichis syndrome

  0.68

• nephronophthisis

  0.63

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

Protein function (UniProt)