{ "url": "https://dantelabs.com/pt/genes/impdh1", "gene": { "slug": "impdh1", "symbol": "IMPDH1", "name": "inosine monophosphate dehydrogenase 1", "hgnc": "HGNC:6052", "summary": null, "location": "7q32.1", "locusType": "gene with protein product", "aliases": [ "sWSS2608", "LCA11" ], "previousSymbols": [ "RP10" ], "ensemblId": "ENSG00000106348", "entrezId": 3614, "omim": [ "146690" ], "uniprot": [ "P20839" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 128392277, "end": 128409982, "strand": "-", "ensemblTranscript": "ENST00000338791.11", "refseqTranscript": "NM_000883.4", "ensemblProtein": "ENSP00000345096.6", "refseqProtein": "NP_000874.2", "exons": [ { "start": 128392277, "end": 128393028 }, { "start": 128394278, "end": 128394361 }, { "start": 128394456, "end": 128394599 }, { "start": 128394889, "end": 128395033 }, { "start": 128395131, "end": 128395274 }, { "start": 128396600, "end": 128396695 }, { "start": 128396932, "end": 128397022 }, { "start": 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"ensemblId": "ENSG00000174697", "biotype": "protein_coding", "start": 128241222, "end": 128257629, "strand": "+", "slug": "lep" }, { "symbol": "RBM28", "ensemblId": "ENSG00000106344", "biotype": "protein_coding", "start": 128278493, "end": 128343971, "strand": "-", "slug": "rbm28" }, { "symbol": "PRRT4", "ensemblId": "ENSG00000224940", "biotype": "protein_coding", "start": 128350325, "end": 128361940, "strand": "-", "slug": "prrt4" }, { "symbol": "HILPDA", "ensemblId": "ENSG00000135245", "biotype": "protein_coding", "start": 128455825, "end": 128458423, "strand": "+", "slug": "hilpda" }, { "symbol": "METTL2B", "ensemblId": "ENSG00000165055", "biotype": "protein_coding", "start": 128476729, "end": 128506602, "strand": "+", "slug": "mettl2b" }, { "symbol": "GARIN1A", "ensemblId": "ENSG00000205085", "biotype": "protein_coding", "start": 128671693, "end": 128687877, "strand": "+", "slug": "garin1a" }, { "symbol": "GARIN1B", "ensemblId": "ENSG00000135248", "biotype": "protein_coding", "start": 128709061, "end": 128731743, "strand": "+", "slug": "garin1b" }, { "symbol": "CALU", "ensemblId": "ENSG00000128595", "biotype": "protein_coding", "start": 128739292, "end": 128773400, "strand": "+", "slug": "calu" }, { "symbol": "OPN1SW", "ensemblId": "ENSG00000128617", "biotype": "protein_coding", "start": 128771755, "end": 128775794, "strand": "-", "slug": "opn1sw" }, { "symbol": "CCDC136", "ensemblId": "ENSG00000128596", "biotype": "protein_coding", "start": 128790750, "end": 128822135, "strand": "+", "slug": "ccdc136" }, { "symbol": "FLNC", "ensemblId": "ENSG00000128591", "biotype": "protein_coding", "start": 128830292, "end": 128859275, "strand": "+", "slug": "flnc" }, { "symbol": "KCP", "ensemblId": "ENSG00000135253", "biotype": "protein_coding", "start": 128862042, "end": 128910719, "strand": "-", "slug": "kcp" }, { "symbol": "ATP6V1F", "ensemblId": "ENSG00000128524", "biotype": "protein_coding", "start": 128862816, "end": 128865849, "strand": "+", "slug": "atp6v1f" }, { "symbol": "SPMIP1", "ensemblId": "ENSG00000272899", "biotype": "protein_coding", "start": 128866330, "end": 128872047, "strand": "+", "slug": "spmip1" } ], "truncated": false }, "reports": [ { "slug": "leber-congenital-amaurosis", "name": "Amaurose Congénita de Leber e Retinopatia Relacionada com RPE65", "diseases": [ { "mondoId": "MONDO:0018998", "name": "Amaurose Congénita de Leber", "genes": 21, "inheritance": "autosomal-recessive", "description": "Um grupo de distrofias retinianas hereditárias, causadas por alterações em genes como CEP290, GUCY2D, CRB1, RPE65 e AIPL1, que provocam perda grave de visão, nistagmo e respostas pupilares deficientes na infância.", "management": "A confirmação do gene pode determinar a elegibilidade para tratamentos específicos de cada gene e para ensaios clínicos, e orienta o aconselhamento familiar.", "evidence": { "gencc": [ "G2P" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/leber-congenital-amaurosis" }, { "slug": "retinitis-pigmentosa", "name": "Retinose Pigmentar", "diseases": [ { "mondoId": "MONDO:1040051", "name": "Retinopatia Relacionada com IMPDH1", "genes": 1, "inheritance": "autosomal-dominant", "description": "Uma distrofia retiniana causada por alterações no gene IMPDH1.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019200", "name": "Retinose Pigmentar", "genes": 77, "inheritance": null, "description": "Um grupo de distrofias retinianas hereditárias com perda progressiva dos fotorrecetores de bastonetes e, depois, de cones, que provoca cegueira noturna e perda gradual da visão periférica.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/pt/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-optic-disc-morphology", "name": "Abnormal optic disc morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-optic-disc-morphology" }, { "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": "abnormality-of-neuronal-migration", "name": "Abnormality of neuronal migration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration" }, { "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": "aplasia-hypoplasia-of-the-cerebellar-vermis", "name": "Aplasia/Hypoplasia of the cerebellar vermis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellar-vermis" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "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": "bull-s-eye-maculopathy", "name": "Bull's eye maculopathy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bull-s-eye-maculopathy" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cataract" }, { "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": "encephalocele", "name": "Encephalocele", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/encephalocele" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "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": "eye-poking", "name": "Eye poking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eye-poking" }, { "slug": "hypermetropia", "name": "Farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypermetropia" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hyperinsulinemia", "name": "Hyperinsulinemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperinsulinemia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "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": "obligate", "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": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "macular-geographic-atrophy", "name": "Macular geographic atrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/macular-geographic-atrophy" }, { "slug": "severely-reduced-visual-acuity", "name": "Marked vision impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/motor-delay" }, { "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": "obligate", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "hemiplegia-hemiparesis", "name": "Paralysis or weakness of one side of body", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis" }, { "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": "frequent", "url": "https://dantelabs.com/traits/retinal-atrophy" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "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": "slow-pupillary-light-response", "name": "Slow pupillary light response", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/slow-pupillary-light-response" }, { "slug": "spicular-pigmentation-of-the-retina", "name": "Spicular pigmentation of the retina", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina" }, { "slug": "undetectable-light-and-dark-adapted-electroretinogram", "name": "Undetectable light- and dark-adapted electroretinogram", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/undetectable-light-and-dark-adapted-electroretinogram" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/visual-impairment" } ], "related": [ { "slug": "crb1", "symbol": "CRB1", "name": "crumbs cell polarity complex component 1", "shared": 2, "url": "https://dantelabs.com/pt/genes/crb1" }, { "slug": "crx", "symbol": "CRX", "name": "cone-rod homeobox", "shared": 2, "url": "https://dantelabs.com/pt/genes/crx" }, { "slug": "prph2", "symbol": "PRPH2", "name": "peripherin 2", "shared": 2, "url": "https://dantelabs.com/pt/genes/prph2" }, { "slug": "rdh12", "symbol": "RDH12", "name": "retinol dehydrogenase 12", "shared": 2, "url": "https://dantelabs.com/pt/genes/rdh12" }, { "slug": "rom1", "symbol": "ROM1", "name": "retinal outer segment membrane protein 1", "shared": 2, "url": "https://dantelabs.com/pt/genes/rom1" }, { "slug": "rpe65", "symbol": "RPE65", "name": "retinoid isomerohydrolase RPE65", "shared": 2, "url": "https://dantelabs.com/pt/genes/rpe65" }, { "slug": "spata7", "symbol": "SPATA7", "name": "spermatogenesis associated 7", "shared": 2, "url": "https://dantelabs.com/pt/genes/spata7" }, { "slug": "tulp1", "symbol": "TULP1", "name": "TUB like protein 1", "shared": 2, "url": "https://dantelabs.com/pt/genes/tulp1" }, { "slug": "abca4", "symbol": "ABCA4", "name": "ATP binding cassette subfamily A member 4", "shared": 1, "url": "https://dantelabs.com/pt/genes/abca4" }, { "slug": "agbl5", "symbol": "AGBL5", "name": "AGBL carboxypeptidase 5", "shared": 1, "url": "https://dantelabs.com/pt/genes/agbl5" }, { "slug": "ahr", "symbol": "AHR", "name": "aryl hydrocarbon receptor", "shared": 1, "url": "https://dantelabs.com/pt/genes/ahr" }, { "slug": "aipl1", "symbol": "AIPL1", "name": "AIP like 1 HSP90 co-chaperone", "shared": 1, "url": "https://dantelabs.com/pt/genes/aipl1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }