TMEM237

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• 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

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Joubert syndrome 14

  0.78

• Joubert syndrome

  0.77

• Joubert syndrome with oculorenal defect

  0.62

• Joubert syndrome and related disorders

  0.45

• Meckel syndrome

  0.44

• eye disorder

  0.37

• Joubert syndrome with renal defect

  0.37

• neurodegenerative disease

  0.27

• upper aerodigestive tract neoplasm

  0.25

• hereditary disease

  0.19

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

Protein function (UniProt)

Diseases associated with TMEM237

Curated MONDO disease pages that list TMEM237 among their top associated genes.

• Joubert syndromeRare