This Panel is marked as Retired
Congenital neutropaenia
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
1 review
Helen Brittain (Genomics England Curator)
Cyclical neutropaenia is a feature of Cohen syndrome, along with other syndromic associations including retinal dystrophy, ID, obesity.Created: 19 Sep 2017, 12:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cohen syndrome 216550
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Cohen syndrome 216550
- OMIM
- 607817
- Clinvar variants
- Variants in VPS13B
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Severe early-onset obesity
- Rare multisystem ciliopathy disorders
- Neurological ciliopathies
- Retinal disorders
- Cytopenia - NOT Fanconi anaemia
- Ophthalmological ciliopathies
- Intellectual disability
- COVID-19 research
- Vici Syndrome and other autophagy disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
History Filter Activity
19 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Sep 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)VPS13B was created by helen.brittain
19 Sep 2017, Gel status: 0
Added New Source
Helen Brittain (Genomics England Curator)VPS13B was added to Congenital neutropaeniapanel. Sources: Literature