LRRC56

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Laterality disorders and isomerism

  BIALLELIC, autosomal or pseudoautosomal

• Respiratory ciliopathies including non-CF bronchiectasis

  BIALLELIC, autosomal or pseudoautosomal

• Primary ciliary disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• ciliary dyskinesia, primary, 39

  0.72

• primary ciliary dyskinesia

  0.39

• Kartagener Syndrome

  0.27

• hypothyroidism

  0.15

• arthropathy

  0.12

• Hashimoto thyroiditis

  0.07

• breast cancer

  0.07

• ciliopathy

  0.05

• Joubert syndrome

  0.04

• heterotaxy, visceral, 9, autosomal, with male infertility

  0.04

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

Protein function (UniProt)