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  2. Renal ciliopathies
  3. EXOC8
STRs in panel
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Renal ciliopathies

Gene: EXOC8

Red List (low evidence)
EXOC8 (exocyst complex component 8)
EnsemblGeneIds (GRCh38): ENSG00000116903
EnsemblGeneIds (GRCh37): ENSG00000116903
OMIM: 615283, Gene2Phenotype
EXOC8 is in 4 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Only one reported patient
Created: 25 Jan 2017, 12:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome

Publications

Created: 25 Jan 2017, 12:47 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.461

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
OMIM
615283
Clinvar variants
Variants in EXOC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: EXOC8 was added gene: EXOC8 was added to Renal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: EXOC8 was set to Publications for gene: EXOC8 were set to 22700954 Phenotypes for gene: EXOC8 were set to No OMIM phenotype; Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)