VMO1

Chr 17

vitelline membrane outer layer 1 homolog

Also known as: ERGA6350, PRO21055

NCBI Gene: 284013ENSG00000182853UniProt: Q7Z5L0

Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
22
Pathogenic / LP
74
ClinVar variants
3
Pubs (1 yr)
-0.2
Missense Z
1.84
LOEUF
Clinical Summary— VMO1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
22 Pathogenic / Likely Pathogenic· 47 VUS of 74 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.84LOEUF
pLI 0.000
Z-score -0.42
OE 1.17 (0.68–1.84)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.17Z-score
OE missense 1.04 (0.91–1.20)
139 obs / 133.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.17 (0.68–1.84)
0≤0.351.4
Missense OE1.04 (0.91–1.20)
0≤0.61.4
Synonymous OE0.81
0≤1.21.6
LoF obs/exp: 8 / 6.8Missense obs/exp: 139 / 133.4Syn Z: 1.20
DN
DN
0.6162th %ile
GOF
0.4875th %ile
LOF
0.3843th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

74 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic21
Likely Pathogenic1
VUS47
Likely Benign5
21
Pathogenic
1
Likely Pathogenic
47
VUS
5
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
21
0
21
Likely Pathogenic
0
0
1
0
1
VUS
1
35
11
0
47
Likely Benign
0
4
1
0
5
Benign
0
0
0
0
0
Total13934074

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

VMO1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Antimicrobial Proteins and Peptides in Avian Eggshell: Structural Diversity and Potential Roles in Biomineralization
Moreau T et al.·Front Immunol
2022
Weakening of hen egg vitelline membrane during egg storage at room temperature is associated with modifications of its mass, thickness and proteomic profile.
Hervé O et al.·Food Res Int
2026
Trade-off strategy under stress: Growth, reproduction, and antioxidant defense in Daphnia magna exposed to 6PPD-Q.
Zhuang Z et al.·J Hazard Mater
2025
Greater toxic potency of bisphenol AF than bisphenol A in growth, reproduction, and transcription of genes in Daphnia magna.
Chen S et al.·Environ Sci Pollut Res Int
2021
Histopathological and transcriptomic analyses reveal the reproductive endocrine-disrupting effects of decabromodiphenyl ethane (DBDPE) in mussel Mytilus galloprovincialis.
Wang S et al.·Sci Total Environ
2023
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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