IFT74

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bardet Biedl syndrome

  BIALLELIC, autosomal or pseudoautosomal

• 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

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Joubert syndrome 40

  0.73

• Bardet-Biedl syndrome 22

  0.69

• spermatogenic failure 58

  0.52

• Bardet-Biedl syndrome

  0.50

• hereditary disease

  0.45

• Joubert syndrome

  0.38

• ciliopathy

  0.37

• Male infertility due to large-headed multiflagellar polyploid spermatozoa

  0.37

• ciliopathy-IFT74

  0.37

• Jeune syndrome

  0.27

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

Protein function (UniProt)