TMEM138

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• 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

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Cystic kidney disease

• Ocular coloboma

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Joubert syndrome with oculorenal defect

  0.81

• Joubert syndrome

  0.63

• Joubert syndrome and related disorders

  0.43

• Meckel syndrome

  0.26

• ciliopathy

  0.19

• hereditary disease

  0.19

• preeclampsia

  0.06

• systemic-onset juvenile idiopathic arthritis

  0.01

• Retinal dystrophy

  0.01

• inherited retinal dystrophy

  0.01

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

Protein function (UniProt)