ROM1 Chromosome 11
Retinal outer segment membrane protein 1
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What This Gene Does
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]
Gene Info
Gene Group
Tetraspanins
Locus Type
gene with protein product
Location
11q12.3
Ensembl
ENSG00000149489
Associated Conditions (5)
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 7
digenic
ROM1-related disorder
Key Variants
RS139654544
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS141629524
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS141919268
Conflicting classifications of pathogenicity
Health Risk
RS143166696
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS144650228
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS148196509
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS149255362
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS150926409
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS190642059
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS200213584
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS371141320
Conflicting classifications of pathogenicity
Health Risk
RS562434504
Conflicting classifications of pathogenicity
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139654544 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS141629524 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS141919268 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143166696 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS144650228 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS148196509 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS149255362 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS150926409 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS190642059 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS200213584 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS371141320 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS562434504 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS71458427 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 7, digenic, Retinitis pigmentosa |
| RS747855165 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS886042979 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886048440 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |