Arthrogryposis
Gene: VPS8
VPS8 (VPS8, CORVET complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000156931
EnsemblGeneIds (GRCh37): ENSG00000156931
VPS8 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000156931
EnsemblGeneIds (GRCh37): ENSG00000156931
VPS8 is in 1 panel
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. Determined as limited evidence for this gene-disease relationship by the ClinGen calculated classification and expert curation (11/24/2016) therefore added to this panel as red. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 18 Jul 2017, 2:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis; OrphaNet ORPHA1037; OMIM108120
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Arthrogryposis
- OrphaNet ORPHA1037
- OMIM108120
- Clinvar variants
- Variants in VPS8
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
18 Jul 2017, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)VPS8 was added to Arthrogryposispanel. Sources: Other
18 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)VPS8 was created by ellenmcdonagh