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  3. VPS13B
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Syndromic Retinopathy

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

3 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

Created: 19 Jul 2021, 3:39 a.m.
Last Modified: 19 Jul 2021, 3:39 a.m.
Panel version: Imported from Mendeliome panel version 0.8440

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Retinopathy is a common feature of the condition. >10 cases reported.
Sources: Expert list
Created: 22 May 2020, 6:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cohen syndrome MIM#216550

Publications

Created: 22 May 2020, 6:56 a.m.

Panel version: 0.36

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)

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

Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version 0.78

History Filter Activity

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: VPS13B was added gene: VPS13B was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13B were set to 31580008; 24334764 Phenotypes for gene: VPS13B were set to Cohen syndrome MIM#216550 Review for gene: VPS13B was set to GREEN