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Prepair 1000+

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

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Cohen syndrome is characterized chiefly by intellectual disability and developmental delay, typical facial gestalt, pigmentary retinopathy and intermittent neutropenia. It is over-represented in the Finnish population, likely due to a founder effect, with patients exhibiting a homogeneous phenotype.

HGNC approved symbol/name: VPS13B
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: deletions account for approximately 30% of pathogenic variants in this gene (PMID: 21330571)
Created: 14 Mar 2025, 1:07 a.m. | Last Modified: 14 Mar 2025, 1:07 a.m.
Panel Version: 1.1586

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cohen syndrome, MIM# 216550

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Cohen syndrome, 216550 (3) for gene: VPS13B

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS13B was added gene: VPS13B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13B were set to Cohen syndrome, 216550 (3)