1. Genes and Genomic Entities
  2. EXOC8

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 1.180

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


Level 2: Ophthalmology
Version 5.22
Latest signed off version: v5.0 (30 Apr 2025)

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 2: Neurology
    Version 6.17
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Renal
    Version 4.14
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  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)