ROM1

Chr 11ADARDigenic dominant

retinal outer segment membrane protein 1

Also known as: ROM, ROSP1, RP7, TSPAN23

NCBI Gene: 6094ENSG00000149489UniProt: Q03395

This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Retinitis pigmentosa 7, digenic formMIM #608133
ADARDigenic dominant
406
ClinVar variants
11
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— ROM1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 265 VUS of 406 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.10LOEUF
pLI 0.000
Z-score 1.33
OE 0.59 (0.33–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.91Z-score
OE missense 1.18 (1.06–1.32)
233 obs / 197.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.59 (0.33–1.10)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.18 (1.06–1.32)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.09
0≤1.21.6
LoF obs/exp: 7 / 12.0Missense obs/exp: 233 / 197.2Syn Z: -0.68

ClinVar Variant Classifications

406 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
Likely Pathogenic3
VUS265
Likely Benign106
Benign8
Conflicting16
8
Pathogenic
3
Likely Pathogenic
265
VUS
106
Likely Benign
8
Benign
16
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
8
0
8
Likely Pathogenic
0
0
3
0
3
VUS
18
212
34
1
265
Likely Benign
1
3
20
82
106
Benign
0
2
3
3
8
Conflicting
—16
Total192176886406

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

View in ClinVar →

Protein Context — Lollipop Plot

ROM1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Retinitis pigmentosa 7, digenic form

MIM #608133

Molecular basis of disorder known

Autosomal dominantAutosomal recessiveDigenic dominant
📖
GeneReview available — ROM1
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
Zernant J et al.·PLoS Genet
2022
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
Poloschek CM et al.·Invest Ophthalmol Vis Sci
2010
ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
Strayve D et al.·Hum Mol Genet
2020
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.
Conley SM et al.·Hum Mol Genet
2017
Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.
Dryja TP et al.·Invest Ophthalmol Vis Sci
1997
The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases.
Tebbe L et al.·Cells
2020Review
Update on the molecular genetics of retinitis pigmentosa.
Wang Q et al.·Ophthalmic Genet
2001Review
Polymorphisms and rare sequence variants at the ROM1 locus.
Bascom RA et al.·Hum Mol Genet
1993
Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.
Nichols BE et al.·Am J Hum Genet
1994
Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1.
Ma CJ et al.·Cold Spring Harb Mol Case Stud
2019Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Peripherin-2 and ROM1 Incorporate Directly Into the Rims of Enclosing Photoreceptor Discs Without Accumulating in the Nascent Disc Lamellae.
Klementieva NV et al.·Invest Ophthalmol Vis Sci
2025🔓 Open Access
Identification and cellular localization in Xenopus laevis photoreceptors of three Peripherin-2 family members, Prph2, Rom1 and Gp2l, which arose from gene duplication events in the common ancestors of jawed vertebrates.
Tam BM et al.·Exp Eye Res
2024
ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims.
Lewis TR et al.·Elife
2023🔓 Open Access
The Role of Peripherin-2/ROM1 Complexes in Photoreceptor Outer Segment Disc Morphogenesis.
Lewis TR et al.·Adv Exp Med Biol
2023
Cryo-EM structures of peripherin-2 and ROM1 suggest multiple roles in photoreceptor membrane morphogenesis.
El Mazouni D et al.·Sci Adv
2022🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

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