EXOC8

exocyst complex component 8
OMIM: 615283, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red EXOC8 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
Red EXOC8 in Ophthalmological ciliopathies


Version 3.6
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • No OMIM phenotype
    • Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
    Red EXOC8 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.19
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • No OMIM phenotype
    • Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
    Red EXOC8 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • No OMIM phenotype
    • Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)