IFT172

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  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)

• short-rib thoracic dysplasia 10 with or without polydactyly

  0.81

• retinitis pigmentosa 71

  0.78

• Bardet-Biedl syndrome 20

  0.72

• Jeune syndrome

  0.68

• retinitis pigmentosa

  0.67

• short-rib thoracic dysplasia 9 with or without polydactyly

  0.65

• short rib dysplasia

  0.51

• Retinal dystrophy

  0.51

• Bardet-Biedl syndrome

  0.47

• hereditary disease

  0.45

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

Protein function (UniProt)