{ "url": "https://dantelabs.com/sv/genes/reep6", "gene": { "slug": "reep6", "symbol": "REEP6", "name": "receptor accessory protein 6", "hgnc": "HGNC:30078", "summary": null, "location": "19p13.3", "locusType": "gene with protein product", "aliases": [ "DP1L1", "FLJ25383", "Yip2f", "TB1" ], "previousSymbols": [ "C19orf32" ], "ensemblId": "ENSG00000115255", "entrezId": 92840, "omim": [ "609346" ], "uniprot": [ "Q96HR9" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 1491181, "end": 1497927, "strand": "+", "ensemblTranscript": "ENST00000233596.8", "refseqTranscript": "NM_138393.4", "ensemblProtein": "ENSP00000233596.2", "refseqProtein": "NP_612402.1", "exons": [ { "start": 1491181, "end": 1491384 }, { "start": 1495294, "end": 1495387 }, { "start": 1495469, "end": 1495607 }, { "start": 1496285, "end": 1496453 }, { "start": 1497174, "end": 1497927 } ], "cds": { "start": 1491270, "end": 1497211 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 1491165, "end": 1497926, "strand": "+" }, "neighbourhood": { "release": "116", "start": 994554, "end": 1994553, "genes": [ { "symbol": "WDR18", "ensemblId": "ENSG00000065268", "biotype": "protein_coding", "start": 984248, "end": 998438, "strand": "+", "slug": "wdr18" }, { "symbol": "GRIN3B", "ensemblId": "ENSG00000116032", "biotype": "protein_coding", "start": 1000419, "end": 1009732, "strand": "+", "slug": "grin3b" }, { "symbol": "TMEM259", "ensemblId": "ENSG00000182087", "biotype": "protein_coding", "start": 1009615, "end": 1021270, "strand": "-", "slug": "tmem259" }, { "symbol": "CNN2", "ensemblId": "ENSG00000064666", "biotype": "protein_coding", "start": 1026270, "end": 1039077, "strand": "+", "slug": "cnn2" }, { "symbol": "ABCA7", "ensemblId": "ENSG00000064687", "biotype": "protein_coding", "start": 1039997, "end": 1065572, "strand": "+", "slug": "abca7" }, { "symbol": "ARHGAP45", "ensemblId": "ENSG00000180448", "biotype": "protein_coding", "start": 1065923, "end": 1087829, "strand": "+", "slug": "arhgap45" }, { "symbol": "POLR2E", "ensemblId": "ENSG00000099817", "biotype": "protein_coding", "start": 1085104, "end": 1095486, "strand": "-", "slug": "polr2e" }, { "symbol": "GPX4", "ensemblId": "ENSG00000167468", "biotype": "protein_coding", "start": 1103982, "end": 1106791, "strand": "+", "slug": "gpx4" }, { "symbol": "SBNO2", "ensemblId": "ENSG00000064932", "biotype": "protein_coding", "start": 1107634, "end": 1174295, "strand": "-", "slug": "sbno2" }, { "symbol": "STK11", "ensemblId": "ENSG00000118046", "biotype": "protein_coding", "start": 1177558, "end": 1228431, "strand": "+", "slug": "stk11" }, { "symbol": "CBARP", "ensemblId": "ENSG00000099625", "biotype": "protein_coding", "start": 1228282, "end": 1239465, "strand": "-", "slug": "cbarp" }, { "symbol": "ATP5F1D", "ensemblId": "ENSG00000099624", "biotype": "protein_coding", "start": 1241734, "end": 1244828, "strand": "+", "slug": "atp5f1d" }, { "symbol": "MIDN", "ensemblId": "ENSG00000167470", "biotype": "protein_coding", "start": 1248316, "end": 1259145, "strand": "+", "slug": "midn" }, { "symbol": "CIRBP", "ensemblId": "ENSG00000099622", "biotype": "protein_coding", "start": 1259384, "end": 1274880, "strand": "+", "slug": "cirbp" }, { "symbol": "FAM174C", "ensemblId": "ENSG00000310576", "biotype": "protein_coding", "start": 1275509, "end": 1279244, "strand": "+" }, { "symbol": "FAM174C", "ensemblId": "ENSG00000228300", "biotype": "protein_coding", "start": 1276021, "end": 1279244, "strand": "+", "slug": "fam174c" }, { "symbol": "EFNA2", "ensemblId": "ENSG00000099617", "biotype": "protein_coding", "start": 1285873, "end": 1301431, "strand": "+", "slug": "efna2" }, { "symbol": "PWWP3A", "ensemblId": "ENSG00000160953", "biotype": "protein_coding", "start": 1354293, "end": 1378434, "strand": "+", "slug": "pwwp3a" }, { "symbol": "NDUFS7", "ensemblId": "ENSG00000115286", "biotype": "protein_coding", "start": 1383527, "end": 1395590, "strand": "+", "slug": "ndufs7" }, { "symbol": "GAMT", "ensemblId": "ENSG00000130005", "biotype": "protein_coding", "start": 1397026, "end": 1401731, "strand": "-", "slug": "gamt" }, { "symbol": "DAZAP1", "ensemblId": "ENSG00000071626", "biotype": "protein_coding", "start": 1407533, "end": 1435687, "strand": "+", "slug": "dazap1" }, { "symbol": "RPS15", "ensemblId": "ENSG00000115268", "biotype": "protein_coding", "start": 1438149, "end": 1440508, "strand": "+", "slug": "rps15" }, { "symbol": "APC2", "ensemblId": "ENSG00000115266", "biotype": "protein_coding", "start": 1446302, "end": 1473244, "strand": "+", "slug": "apc2" }, { "symbol": "C19orf25", "ensemblId": "ENSG00000119559", "biotype": "protein_coding", "start": 1461143, "end": 1479565, "strand": "-", "slug": "c19orf25" }, { "symbol": "PCSK4", "ensemblId": "ENSG00000115257", "biotype": "protein_coding", "start": 1481428, "end": 1490752, "strand": "-", "slug": "pcsk4" }, { "symbol": "ADAMTSL5", "ensemblId": "ENSG00000185761", "biotype": "protein_coding", "start": 1503045, "end": 1513604, "strand": "-", "slug": "adamtsl5" }, { "symbol": "PLK5", "ensemblId": "ENSG00000185988", "biotype": "protein_coding", "start": 1507978, "end": 1536046, "strand": "+", "slug": "plk5" }, { "symbol": "MEX3D", "ensemblId": "ENSG00000181588", "biotype": "protein_coding", "start": 1554672, "end": 1568352, "strand": "-", "slug": "mex3d" }, { "symbol": "MBD3", "ensemblId": "ENSG00000071655", "biotype": "protein_coding", "start": 1573596, "end": 1592911, "strand": "-", "slug": "mbd3" }, { "symbol": "", "ensemblId": "ENSG00000267059", "biotype": "protein_coding", "start": 1578339, "end": 1605445, "strand": "-" }, { "symbol": "UQCR11", "ensemblId": "ENSG00000127540", "biotype": "protein_coding", "start": 1593987, "end": 1605500, "strand": "-", "slug": "uqcr11" }, { "symbol": "TCF3", "ensemblId": "ENSG00000071564", "biotype": "protein_coding", "start": 1609291, "end": 1652911, "strand": "-", "slug": "tcf3" }, { "symbol": "ONECUT3", "ensemblId": "ENSG00000205922", "biotype": "protein_coding", "start": 1753506, "end": 1780988, "strand": "+", "slug": "onecut3" }, { "symbol": "ATP8B3", "ensemblId": "ENSG00000130270", "biotype": "protein_coding", "start": 1781761, "end": 1812295, "strand": "-", "slug": "atp8b3" }, { "symbol": "REXO1", "ensemblId": "ENSG00000079313", "biotype": "protein_coding", "start": 1815248, "end": 1848493, "strand": "-", "slug": "rexo1" }, { "symbol": "KLF16", "ensemblId": "ENSG00000129911", "biotype": "protein_coding", "start": 1852399, "end": 1863919, "strand": "-", "slug": "klf16" }, { "symbol": "ABHD17A", "ensemblId": "ENSG00000129968", "biotype": "protein_coding", "start": 1876810, "end": 1885618, "strand": "-", "slug": "abhd17a" }, { "symbol": "ADAT3", "ensemblId": "ENSG00000213638", "biotype": "protein_coding", "start": 1905214, "end": 1913448, "strand": "+", "slug": "adat3" }, { "symbol": "SCAMP4", "ensemblId": "ENSG00000227500", "biotype": "protein_coding", "start": 1905214, "end": 1926013, "strand": "+", "slug": "scamp4" }, { "symbol": "CSNK1G2", "ensemblId": "ENSG00000133275", "biotype": "protein_coding", "start": 1940915, "end": 1981339, "strand": "+", "slug": "csnk1g2" }, { "symbol": "BTBD2", "ensemblId": "ENSG00000133243", "biotype": "protein_coding", "start": 1985438, "end": 2034881, "strand": "-", "slug": "btbd2" } ], "truncated": false }, "reports": [ { "slug": "retinitis-pigmentosa", "name": "Retinitis pigmentosa", "diseases": [ { "mondoId": "MONDO:1040066", "name": "Reep6-relaterad retinopati", "genes": 1, "inheritance": null, "description": "Alla former av retinopati orsakade av varianter i genen REEP6.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019200", "name": "Retinitis pigmentosa", "genes": 77, "inheritance": null, "description": "En grupp ärftliga retinala dystrofier med progressiv förlust av först stavar och sedan tappar (fotoreceptorer), vilket orsakar nattblindhet och gradvis förlust av perifer syn.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/retinitis-pigmentosa" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-central-response-of-multifocal-electroretinogram", "name": "Abnormal central response of multifocal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-central-response-of-multifocal-electroretinogram" }, { "slug": "color-vision-defect", "name": "Abnormal color vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/color-vision-defect" }, { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "abnormal-full-field-electroretinogram", "name": "Abnormal full-field electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram" }, { "slug": "abnormal-retinal-pigmentation", "name": "Abnormal retinal pigmentation", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation" }, { "slug": "abnormal-retinal-vascular-morphology", "name": "Abnormality of retina blood vessels", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-retinal-vascular-morphology" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "keratoconus", "name": "Bulging cornea", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/keratoconus" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "cystoid-macular-edema", "name": "Cystoid macular edema", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cystoid-macular-edema" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "nyctalopia", "name": "Difficulties with night vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nyctalopia" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "ophthalmoplegia", "name": "Eye muscle paralysis", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ophthalmoplegia" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "hyperinsulinemia", "name": "Hyperinsulinemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperinsulinemia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "constriction-of-peripheral-visual-field", "name": "Limited peripheral vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field" }, { "slug": "peripheral-visual-field-loss", "name": "Loss of peripheral vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-visual-field-loss" }, { "slug": "attenuation-of-retinal-blood-vessels", "name": "Narrowing of blood vessels in back of eye", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "optic-disc-drusen", "name": "Optic disc drusen", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-disc-drusen" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "photopsia", "name": "Photopsia", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/photopsia" }, { "slug": "photoreceptor-outer-segment-loss-on-macular-oct", "name": "Photoreceptor outer segment loss on macular OCT", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/photoreceptor-outer-segment-loss-on-macular-oct" }, { "slug": "posterior-subcapsular-cataract", "name": "Posterior subcapsular cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract" }, { "slug": "progressive-night-blindness", "name": "Progressive night blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-night-blindness" }, { "slug": "retinal-degeneration", "name": "Retina degeneration", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/retinal-degeneration" }, { "slug": "retinal-atrophy", "name": "Retinal atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/retinal-atrophy" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "spicular-pigmentation-of-the-retina", "name": "Spicular pigmentation of the retina", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/visual-impairment" } ], "related": [ { "slug": "abca4", "symbol": "ABCA4", "name": "ATP binding cassette subfamily A member 4", "shared": 1, "url": "https://dantelabs.com/sv/genes/abca4" }, { "slug": "agbl5", "symbol": "AGBL5", "name": "AGBL carboxypeptidase 5", "shared": 1, "url": "https://dantelabs.com/sv/genes/agbl5" }, { "slug": "ahr", "symbol": "AHR", "name": "aryl hydrocarbon receptor", "shared": 1, "url": "https://dantelabs.com/sv/genes/ahr" }, { "slug": "arhgef18", "symbol": "ARHGEF18", "name": "Rho/Rac guanine nucleotide exchange factor 18", "shared": 1, "url": "https://dantelabs.com/sv/genes/arhgef18" }, { "slug": "arl2bp", "symbol": "ARL2BP", "name": "ARF like GTPase 2 binding protein", "shared": 1, "url": "https://dantelabs.com/sv/genes/arl2bp" }, { "slug": "arl3", "symbol": "ARL3", "name": "ARF like GTPase 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/arl3" }, { "slug": "arl6", "symbol": "ARL6", "name": "ARF like GTPase 6", "shared": 1, "url": "https://dantelabs.com/sv/genes/arl6" }, { "slug": "bbs2", "symbol": "BBS2", "name": "Bardet-Biedl syndrome 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/bbs2" }, { "slug": "best1", "symbol": "BEST1", "name": "bestrophin 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/best1" }, { "slug": "ca4", "symbol": "CA4", "name": "carbonic anhydrase 4", "shared": 1, "url": "https://dantelabs.com/sv/genes/ca4" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 1, "url": "https://dantelabs.com/sv/genes/cc2d2a" }, { "slug": "cdhr1", "symbol": "CDHR1", "name": "cadherin related family member 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/cdhr1" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }