Rare multisystem ciliopathy disorders
Gene: EXOC8
EXOC8 (exocyst complex component 8)
EnsemblGeneIds (GRCh38): ENSG00000116903
EnsemblGeneIds (GRCh37): ENSG00000116903
OMIM: 615283, Gene2Phenotype
EXOC8 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000116903
EnsemblGeneIds (GRCh37): ENSG00000116903
OMIM: 615283, Gene2Phenotype
EXOC8 is in 4 panels
1 review
Alice Gardham (Genomics England)
Only one reported patientCreated: 25 Jan 2017, 12:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome
Publications
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
- Complete
- Publications
- Panels with this gene
History Filter Activity
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
25 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Jan 2017, Gel status: 1
Set publications
Alice Gardham (Genomics England)Publications for EXOC8 were set to 22700954
25 Nov 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)EXOC8 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
25 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)EXOC8 was created by ellenmcdonagh