ROM1 Chromosome 11

Retinal outer segment membrane protein 1
16 variants 16 Health Risk

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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
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
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