SCNN1B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Extreme early-onset hypertension

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Non-CF bronchiectasis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Renal tubulopathies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Respiratory ciliopathies including non-CF bronchiectasis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Familial pulmonary fibrosis

• Primary ciliary disorders

• Rare multisystem ciliopathy disorders

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Disease associations (Open Targets)

• bronchiectasis with or without elevated sweat chloride 1

  0.77

• Liddle syndrome 1

  0.76

• pseudohypoaldosteronism, type IB2, autosomal recessive

  0.68

• pseudohypoaldosteronism, type IB1, autosomal recessive

  0.66

• Generalized pseudohypoaldosteronism type 1

  0.63

• hypertensive disorder

  0.61

• Liddle syndrome

  0.61

• idiopathic bronchiectasis

  0.60

• congestive heart failure

  0.58

• cardiac arrhythmia

  0.56

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

Protein function (UniProt)

Diseases associated with SCNN1B

Curated MONDO disease pages that list SCNN1B among their top associated genes.

• preeclampsiaRare