TMEM218

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Joubert syndrome 39

  0.73

• Joubert syndrome

  0.55

• Meckel syndrome, type 4

  0.42

• ciliopathy

  0.38

• placenta praevia

  0.28

• idiopathic pulmonary fibrosis

  0.17

• medical procedure

  0.09

• trauma complication

  0.09

• complication

  0.09

• nephronophthisis

  0.07

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

Protein function (UniProt)