Vici Syndrome and other autophagy disorders
Gene: VPS13B
VPS13B (vacuolar protein sorting 13 homolog B)
EnsemblGeneIds (GRCh38): ENSG00000132549
EnsemblGeneIds (GRCh37): ENSG00000132549
OMIM: 607817, Gene2Phenotype
VPS13B is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000132549
EnsemblGeneIds (GRCh37): ENSG00000132549
OMIM: 607817, Gene2Phenotype
VPS13B is in 13 panels
2 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: After review of this gene in the four sources and in a literature search, it is apparent that variants in VPS13B (also known as COH1) are linked to Cohen syndrome. Some founder mutations are seen in different populations, including a suggested "Baloch" variation in the Pakistani population (PMID 26104215), however other mutations in other populations thought to be unrelated to founder effects are also seen.Created: 18 Jul 2017, 1:37 p.m.
Ellen McDonagh (Genomics England Curator)
Confirmed DD gene for Cohen syndrome.Created: 29 Apr 2016, 7:49 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Cohen syndrome
- OMIM
- 607817
- Clinvar variants
- Variants in VPS13B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Ophthalmological ciliopathies
- Intellectual disability
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Neurological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Vici Syndrome and other autophagy disorders
- DDG2P
- Retinal disorders
- Severe early-onset obesity
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
31 Jul 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
18 Jul 2017, Gel status: 4
Set publications
Olivia Niblock (Genomics England Curator)Publications for VPS13B were set to 26927810; 20656880; 19190672; 18655112; 16648375; 26104215
18 Jul 2017, Gel status: 4
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)VPS13B was created by ellenmcdonagh
29 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)VPS13B was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature