VPS13B

Chr 8AR

vacuolar protein sorting 13 homolog B

Also known as: BLTP5B, CHS1, COH1

NCBI Gene: 157680ENSG00000132549UniProt: Q7Z7G8OMIM: 607817

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cohen syndromeMIM #216550
AR

Clinical highlights

Gene-disease validity (ClinGen)
Cohen syndrome · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
32
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.65
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — VPS13B
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.65LOEUF
pLI 0.000
Z-score 5.71
OE 0.55 (0.47–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.98Z-score
OE missense 0.94 (0.90–0.97)
1947 obs / 2072.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.47–0.65)
0≤0.351.4
Missense OE?0.94 (0.90–0.97)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 105 / 189.9Missense obs/exp: 1947 / 2072.8Syn Z: -0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

VPS13B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients