This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 607817
- Clinvar variants
- Variants in VPS13B
- Penetrance
- None
- Panels with this gene
-
- COVID-19 research
- Fetal anomalies
- DDG2P
- Vici Syndrome and other autophagy disorders
- Neurological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Rare multisystem ciliopathy disorders
- Severe early-onset obesity
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Retinal disorders
- Ophthalmological ciliopathies
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: VPS13B was added gene: VPS13B was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VPS13B was set to Unknown