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Mendeliome

Gene: VPS13B

Green List (high evidence)

VPS13B (vacuolar protein sorting 13 homolog B)
EnsemblGeneIds (GRCh38): ENSG00000132549
EnsemblGeneIds (GRCh37): ENSG00000132549
OMIM: 607817, Gene2Phenotype
VPS13B is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 19 Jul 2021, 3:39 a.m. | Last Modified: 19 Jul 2021, 3:39 a.m.
Panel Version: 0.8440

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cohen syndrome, MIM# 216550

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

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 Review
Created: 4 May 2020, 5:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cohen syndrome (MIM# 216550)

History Filter Activity

19 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps13b has been classified as Green List (High Evidence).

19 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VPS13B were changed from to Cohen syndrome, MIM# 216550

19 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: VPS13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS13B was added gene: VPS13B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VPS13B was set to Unknown