IFT80

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

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic dystrophies

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• Jeune syndrome

  0.79

• Beemer-Langer syndrome

  0.42

• neurodegenerative disease

  0.42

• Short rib-polydactyly syndrome, Verma-Naumoff type

  0.38

• Short rib-polydactyly syndrome, Beemer-Langer type

  0.37

• short-rib thoracic dysplasia 6 with or without polydactyly

  0.34

• myeloproliferative disorder

  0.34

• clonal hematopoiesis

  0.33

• hypothyroidism

  0.26

• hematologic disorder

  0.23

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

Protein function (UniProt)