EPG5

Chr 18

ectopic P-granules 5 autophagy tethering factor

Also known as: HEEW1, KIAA1632, NEDPAM, VICIS

NCBI Gene: 57724ENSG00000152223UniProt: Q9HCE0

This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtVici syndrome
UniProtNeurodevelopmental disorder with parkinsonism or other movement abnormalities

Clinical highlights

Gene-disease validity (ClinGen)
Vici 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.
0
Active trials
30
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.46
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — EPG5
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.46LOEUF
pLI 0.000
Z-score 6.88
OE 0.36 (0.28–0.46)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.08Z-score
OE missense 0.92 (0.87–0.96)
1233 obs / 1344.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.28–0.46)
0≤0.351.4
Missense OE?0.92 (0.87–0.96)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 48 / 134.0Missense obs/exp: 1233 / 1344.4Syn Z: -0.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EPG5 · 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 →

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