VPS13B
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
VPS13B (HGNC:2183) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
vacuolar protein sorting 13 homolog B
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CHS1, COH1
Alias symbols
BLTP5B
%HI
4.55(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.71(Read more about gnomAD LOEUF score)
Cytoband
8q22.2
Genomic Coordinates
GRCh37/hg19: chr8:100025502-100889808 NCBI Ensembl UCSC
GRCh38/hg38: chr8:99013274-99877580 NCBI Ensembl UCSC
MANE Select Transcript
NM_152564.5 ENST00000357162.7 (Read more about MANE Select)
MANE Plus Clinical Transcript(s)
NM_017890.5 ENST00000358544.7 (Read more about MANE Plus Clinical)
Function
Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phosphatidylinositol 3- phosphate (By similarity). Functions as a tethering factor in the slow endocytic recycling pathway, to assist traffic between early and recycling endosomes (PubMed:30962439, PubMed:24334764, PubMed:32375900). Involved in the transport of proacrosomal vesicles to the nuclear dense lamina (NDL) during spermatid development (By similarity). Plays a role in the assembly of the ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23650
ClinGen Curation ID:
CCID:008097
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
06/26/2013

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
The Database of Genomic Variants shows a deletion in one subject in each of three studies. Balikova I et al. 2011 PMID: 21353197 A patient clinically diagnosed with Cohen syndrome has 140 kb homozygous deletion. Both heterozygous parents were reported as normal. Rivera-Brugués N et al. 2011 PMID: 20921020 Performed genomic copy number analysis on 1523 patients with unexplained intellectual disability and found 3 heterozygous deletions affecting VPS13B in 3 individuals. Subsequent sequence analysis showed damaging mutations on the other allele, consistent with a diagnosis of autosomal recessive Cohen syndrome. Parental follow-up studies showed five healthy parents who were carriers of loss of function mutations of VPS13B, including one parent with a deletion of exons 1 to 17.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence of triplosensitivity found at the time of this review.

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)