Ophthalmological ciliopathies
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
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Was confirmed with the Clinical Team that this gene should be green on this panel.Created: 31 Mar 2017, 11:04 p.m.
This gene is green on the Intellectual disability Version 1.110 gene panel due to Cohen syndrome.Created: 31 Mar 2017, 11:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cohen syndrome, 216550; COHEN SYNDROME
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review
- Expert Review Green
- Phenotypes
-
- Cohen syndrome, 216550
- COHEN SYNDROME
- OMIM
- 607817
- Clinvar variants
- Variants in VPS13B
- Penetrance
- None
- Panels with this gene
-
- Vici Syndrome and other autophagy disorders
- Intellectual disability
- Fetal anomalies
- COVID-19 research
- Severe early-onset obesity
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Cytopenia - NOT Fanconi anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ophthalmological ciliopathies
- Neurological ciliopathies
- DDG2P
History Filter Activity
8 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: VPS13B was added gene: VPS13B was added to Ophthalmological ciliopathies. Sources: Expert Review Green,Expert Review Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13B were set to Cohen syndrome, 216550; COHEN SYNDROME