IFT122

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic dystrophies

  BIALLELIC, autosomal or pseudoautosomal

+6 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• cranioectodermal dysplasia

  0.84

• glaucoma

  0.28

• Rod-cone dystrophy

  0.27

• Hypercholesterolemia

  0.24

• disease of peritoneum

  0.24

• Parkinson disease

  0.23

• inherited hemoglobinopathy

  0.20

• hereditary disease

  0.19

• connective tissue disorder

  0.18

• Tietze syndrome

  0.18

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

Protein function (UniProt)