KIAA0586

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

• Hydrocephalus

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Joubert syndrome 23

  0.80

• short-rib thoracic dysplasia 14 with polydactyly

  0.76

• Joubert syndrome

  0.75

• Joubert syndrome with Jeune asphyxiating thoracic dystrophy

  0.66

• short rib dysplasia

  0.57

• Joubert syndrome and related disorders

  0.52

• hereditary disease

  0.51

• neurodegenerative disease

  0.45

• neurodevelopmental disorder

  0.43

• Joubert syndrome 17

  0.37

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

Protein function (UniProt)