Ciliopathies
Gene: VPS13B
VPS13B (vacuolar protein sorting 13 homolog B)
EnsemblGeneIds (GRCh38): ENSG00000132549
EnsemblGeneIds (GRCh37): ENSG00000132549
OMIM: 607817, Gene2Phenotype
VPS13B is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000132549
EnsemblGeneIds (GRCh37): ENSG00000132549
OMIM: 607817, Gene2Phenotype
VPS13B is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Agree retinopathy, obesity and ID overlap significantly with typical phenotypic features of ciliopathies, therefore reasonable to include in this panel even though not strictly a ciliopathy.Created: 4 May 2020, 10:49 a.m. | Last Modified: 4 May 2020, 10:49 a.m.
Panel Version: 0.88
Crystle Lee (Victorian Clinical Genetics Services)
Well reported to cause Cohen syndrome, however, protein forms part of the golgi apparatus and plays an important role in glycosylation. Unsure if ciliopathy?
PanelApp UK: Was confirmed with the Clinical Team that this gene should be green on this panel.
Sources: Expert ReviewCreated: 4 May 2020, 5:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cohen syndrome (MIM# 216550)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Cohen syndrome (MIM# 216550)
- OMIM
- 607817
- Clinvar variants
- Variants in VPS13B
- Penetrance
- None
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Fetal anomalies
- Additional findings_Paediatric
- Phagocyte Defects
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Severe early-onset obesity
- Cerebral Palsy
- Autism
History Filter Activity
4 May 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vps13b has been classified as Amber List (Moderate Evidence).
4 May 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vps13b has been classified as Amber List (Moderate Evidence).
4 May 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Crystle Lee (Victorian Clinical Genetics Services)gene: VPS13B was added gene: VPS13B was added to Ciliopathies. Sources: Expert Review Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13B were set to Cohen syndrome (MIM# 216550) Review for gene: VPS13B was set to AMBER