ROM1

Chr 11ADARDigenic dominant

retinal outer segment membrane protein 1

Also known as: ROM, ROSP1, RP7, TSPAN23

NCBI Gene: 6094 ENSG00000149489 UniProt: Q03395 OMIM: 180721

This protein is an integral membrane component of photoreceptor disk rims that forms homodimers or heterodimers with PRPH2 and is essential for rod outer segment morphogenesis and disk structure maintenance. Mutations cause retinitis pigmentosa, a degenerative eye disease that leads to progressive vision loss. The gene shows low constraint to loss-of-function variants (pLI 0.0004, LOEUF 1.099), and inheritance patterns vary depending on the specific variant.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Retinitis pigmentosa 7, digenic formMIM #608133

ADARDigenic dominant

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Retinitis pigmentosa 7, digenic form; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.10

LOEUF

Multiple*

Mechanism· predicted

📖

GeneReview available — ROM1

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

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?

-0.91Z-score

OE missense 1.18 (1.06–1.32)

233 obs / 197.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.59 (0.33–1.10)

0≤0.351.4

Missense OE?1.18 (1.06–1.32)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 7 / 12.0Missense obs/exp: 233 / 197.2Syn Z: -0.68

Background carrier burden — how many people carry a rare variant somewhere in ROM1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 89

516 rare PASS variants

Rare truncating (LoF)

1 in 160

99 rare PASS variants

Rare synonymous (reference)

1 in 320

165 rare PASS variants

Rare missense and truncating variants are carried at similar rates in ROM1; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 100	1 in 310
South Asian	~43k	1 in 93	1 in 930
Remaining (unassigned)	~30k	1 in 69	1 in 190
European (Finnish)	~27k	1 in 520	1 in 1,100
Admixed American	~22k	1 in 63	1 in 170
African / African American	~21k	1 in 78	1 in 320
East Asian	~20k	1 in 120	1 in 620
Ashkenazi Jewish	~13k	1 in 190	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 56	1 in 190

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓