REEP6 Chromosome 19
Receptor accessory protein 6
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What This Gene Does
The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]
Gene Info
Gene Group
Receptor accessory proteins
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000115255
Associated Conditions (6)
Retinitis pigmentosa 77
REEP6-related disorder
Retinal dystrophy
Inborn genetic diseases
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Key Variants
RS144942685
Conflicting classifications of pathogenicity
Retinitis pigmentosa 77, Retinitis pigmentosa 77
Health Risk
RS145541565
Conflicting classifications of pathogenicity
REEP6-related disorder, Retinal dystrophy, REEP6-related disorder
Health Risk
RS201091937
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751330788
Conflicting classifications of pathogenicity
Retinitis pigmentosa 77, Retinitis pigmentosa 77
Health Risk
RS76079175
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 77, Retinal dystrophy
Health Risk
RS965484445
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057519316
Likely pathogenic
Retinitis pigmentosa 77, Retinitis pigmentosa 77
Health Risk
RS112200356
Likely pathogenic
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS2085000001
Likely pathogenic
Health Risk
RS2085009218
Likely pathogenic
Health Risk
RS1057519317
Pathogenic
Retinitis pigmentosa 77, Retinitis pigmentosa 77
Health Risk
RS1057519341
Pathogenic
Retinitis pigmentosa 77, Retinitis pigmentosa 77
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144942685 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 77, Retinitis pigmentosa 77 |
| RS145541565 | Health Risk | Conflicting classifications of pathogenicity | REEP6-related disorder, Retinal dystrophy, REEP6-related disorder |
| RS201091937 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751330788 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 77, Retinitis pigmentosa 77 |
| RS76079175 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa 77, Retinal dystrophy |
| RS965484445 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057519316 | Health Risk | Likely pathogenic | Retinitis pigmentosa 77, Retinitis pigmentosa 77 |
| RS112200356 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2085000001 | Health Risk | Likely pathogenic | — |
| RS2085009218 | Health Risk | Likely pathogenic | — |
| RS1057519317 | Health Risk | Pathogenic | Retinitis pigmentosa 77, Retinitis pigmentosa 77 |
| RS1057519341 | Health Risk | Pathogenic | Retinitis pigmentosa 77, Retinitis pigmentosa 77 |
| RS1057519427 | Health Risk | Pathogenic | Retinitis pigmentosa 77, Retinitis pigmentosa 77 |
| RS113514722 | Health Risk | Pathogenic | — |
| RS1388664420 | Health Risk | Pathogenic | Retinitis pigmentosa 77, Retinitis pigmentosa 77 |
| RS1455826354 | Health Risk | Pathogenic | — |
| RS1488236066 | Health Risk | Pathogenic | — |
| RS2085005383 | Health Risk | Pathogenic | Retinitis pigmentosa 77, Retinitis pigmentosa 77 |
| RS2145477468 | Health Risk | Pathogenic | — |
| RS2145479013 | Health Risk | Pathogenic | — |
| RS2145479265 | Health Risk | Pathogenic | — |
| RS2512795443 | Health Risk | Pathogenic | — |
| RS2512807049 | Health Risk | Pathogenic | — |
| RS370406639 | Health Risk | Pathogenic | — |
| RS374884010 | Health Risk | Pathogenic | — |
| RS761786834 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa |