IMPG1

Chr 6

interphotoreceptor matrix proteoglycan 1

Also known as: GP147, IPM150, RP91, SPACR, VMD4

NCBI Gene: 3617ENSG00000112706UniProt: Q17R60

This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMacular dystrophy, vitelliform, 4
UniProtRetinitis pigmentosa 91

Clinical highlights

Gene-disease validity (ClinGen)
IMPG1-related dominant retinopathy · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
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
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.35
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.35LOEUF
pLI 0.000
Z-score -0.30
OE 1.05 (0.82–1.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.94Z-score
OE missense 1.13 (1.05–1.22)
476 obs / 421.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.05 (0.82–1.35)
0≤0.351.4
Missense OE?1.13 (1.05–1.22)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 43 / 41.0Missense obs/exp: 476 / 421.9Syn Z: 0.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IMPG1 · 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