{ "url": "https://dantelabs.com/sv/genes/pum1", "gene": { "slug": "pum1", "symbol": "PUM1", "name": "pumilio RNA binding family member 1", "hgnc": "HGNC:14957", "summary": null, "location": "1p35.2", "locusType": "gene with protein product", "aliases": [ "PUMH1", "KIAA0099" ], "previousSymbols": [], "ensemblId": "ENSG00000134644", "entrezId": 9698, "omim": [ "607204" ], "uniprot": [ "Q14671" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 30931506, "end": 31065717, "strand": "-", "ensemblTranscript": "ENST00000426105.7", "refseqTranscript": "NM_001020658.2", "ensemblProtein": "ENSP00000391723.2", "refseqProtein": "NP_001018494.1", "exons": [ { "start": 30931506, "end": 30933342 }, { "start": 30936643, "end": 30936835 }, { "start": 30941151, "end": 30941272 }, { "start": 30941998, "end": 30942123 }, { "start": 30945346, "end": 30945483 }, { "start": 30950127, "end": 30950261 }, { "start": 30952234, "end": 30952363 }, { "start": 30953714, "end": 30953981 }, { "start": 30964674, "end": 30964910 }, { "start": 30965982, "end": 30966278 }, { "start": 30967167, "end": 30967310 }, { "start": 30968354, "end": 30968492 }, { "start": 30974651, "end": 30974802 }, { "start": 30980062, "end": 30980163 }, { "start": 30981312, "end": 30981405 }, { "start": 30992390, "end": 30992660 }, { "start": 30995054, "end": 30995220 }, { "start": 31005853, "end": 31006031 }, { "start": 31006994, "end": 31007102 }, { "start": 31028796, "end": 31028864 }, { "start": 31059204, "end": 31059577 }, { "start": 31065616, "end": 31065717 } ], "cds": { "start": 30933211, "end": 31059566 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 31404353, "end": 31538838, "strand": "-" }, "neighbourhood": { "release": "116", "start": 30498612, "end": 31498611, "genes": [ { "symbol": "", "ensemblId": "ENSG00000289710", "biotype": "protein_coding", "start": 30576655, "end": 30576825, "strand": "-" }, { "symbol": "MATN1", "ensemblId": "ENSG00000162510", "biotype": "protein_coding", "start": 30711277, "end": 30723585, "strand": "-", "slug": "matn1" }, { "symbol": "LAPTM5", "ensemblId": "ENSG00000162511", "biotype": "protein_coding", "start": 30732459, "end": 30757855, "strand": "-", "slug": "laptm5" }, { "symbol": "SDC3", "ensemblId": "ENSG00000162512", "biotype": "protein_coding", "start": 30869466, "end": 30908813, "strand": "-", "slug": "sdc3" }, { "symbol": "NKAIN1", "ensemblId": "ENSG00000084628", "biotype": "protein_coding", "start": 31179084, "end": 31239992, "strand": "-", "slug": "nkain1" }, { "symbol": "SNRNP40", "ensemblId": "ENSG00000060688", "biotype": "protein_coding", "start": 31259042, "end": 31296823, "strand": "-", "slug": "snrnp40" }, { "symbol": "ZCCHC17", "ensemblId": "ENSG00000121766", "biotype": "protein_coding", "start": 31296942, "end": 31371032, "strand": "+", "slug": "zcchc17" }, { "symbol": "FABP3", "ensemblId": "ENSG00000121769", "biotype": "protein_coding", "start": 31359583, "end": 31376850, "strand": "-", "slug": "fabp3" }, { "symbol": "SERINC2", "ensemblId": "ENSG00000168528", "biotype": "protein_coding", "start": 31409565, "end": 31434680, "strand": "+", "slug": "serinc2" } ], "truncated": false }, "reports": [ { "slug": "autosomal-dominant-cerebellar-ataxias", "name": "Autosomala dominanta cerebellära ataxier (SCA och DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "Autosomal dominant cerebellär ataxi", "genes": 36, "inheritance": "autosomal-dominant", "description": "En grupp dominant ärftliga ataxier, inklusive SCA1, SCA2, SCA3 (Machado-Josephs sjukdom), SCA6, SCA7, SCA17, SCA27B och DRPLA, orsakade av repetitionsexpansioner eller punktvarianter i gener som ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 och FGF14.", "management": "Genetisk rådgivning och presymptomatisk testning för släktingar, sjukgymnastik och symtomlindring; vissa former, till exempel SCA27B, kan svara på specifik medicinering.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/autosomal-dominant-cerebellar-ataxias" }, { "slug": "epilepsy-report", "name": "Epilepsi (fullständig panel)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsi", "genes": 171, "inheritance": null, "description": "En hjärnsjukdom som kännetecknas av episoder med onormalt ökad neuronal urladdning, vilket ger övergående episoder av sensoriska eller motoriska neurologiska störningar eller psykiska störningar. Dessa episoder kan, men behöver inte, vara förknippade med medvetslöshet eller krampanfall.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/epilepsy-report" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Ärftliga neurodegenerativa sjukdomar", "diseases": [ { "mondoId": "MONDO:0024237", "name": "KIF5A-relaterad neurodegenerativ sjukdom", "genes": 372, "inheritance": "autosomal-dominant", "description": "Orsakas av förändringar i en kopia av KIF5A, som kodar för ett motorprotein med en svans som binder lastmolekyler. Olika typer av förändringar leder till olika tillstånd: hereditär spastisk paraplegi typ 10, en axonal form av Charcot-Marie-Tooths sjukdom och amyotrofisk lateralskleros (ALS).", "management": "Vården är symtomlindrande och beror på hur sjukdomen visar sig, och omfattar bland annat sjukgymnastik, läkemedel mot spasticitet och multidisciplinär ALS-vård. Varje barn till en drabbad person har 1 av 2 chans att ärva förändringen; genetisk rådgivning hjälper familjer att förstå detta.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/inherited-neurodegenerative-disorders-selected-genes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "almond-shaped-palpebral-fissure", "name": "Almond shaped eyes", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/almond-shaped-palpebral-fissure" }, { "slug": "appendicular-hypotonia", "name": "Appendicular hypotonia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/appendicular-hypotonia" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "clinodactyly", "name": "Curvature of digit", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/clinodactyly" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "dilated-fourth-ventricle", "name": "Dilated fourth ventricle", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dilated-fourth-ventricle" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "hirsutism", "name": "Excessive hairiness", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hirsutism" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "oligodontia", "name": "Failure of development of more than six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oligodontia" }, { "slug": "fine-hair", "name": "Fine hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fine-hair" }, { "slug": "pectus-excavatum", "name": "Funnel chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pectus-excavatum" }, { "slug": "toe-syndactyly", "name": "Fused toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/toe-syndactyly" }, { "slug": "generalized-onset-seizure", "name": "Generalized-onset seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-onset-seizure" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "low-hanging-columella", "name": "Low hanging columella", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/low-hanging-columella" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "reduced-bone-mineral-density", "name": "Low solidness and mass of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-bone-mineral-density" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "narrow-forehead", "name": "Narrow forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-forehead" }, { "slug": "pointed-chin", "name": "Pointed chin", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pointed-chin" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "prominent-nasal-bridge", "name": "Prominent nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-nasal-bridge" }, { "slug": "prominent-nose", "name": "Prominent nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-nose" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "short-middle-phalanx-of-the-5th-finger", "name": "Short middle bone of the little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-middle-phalanx-of-the-5th-finger" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "sloping-forehead", "name": "Sloping forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sloping-forehead" }, { "slug": "small-hand", "name": "Small hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/small-hand" }, { "slug": "sparse-eyebrow", "name": "Sparse eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sparse-eyebrow" }, { "slug": "sparse-eyelashes", "name": "Sparse eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sparse-eyelashes" }, { "slug": "stereotypical-hand-wringing", "name": "Stereotypical hand wringing", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/stereotypical-hand-wringing" }, { "slug": "tapered-finger", "name": "Tapered finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tapered-finger" }, { "slug": "thin-corpus-callosum", "name": "Thin corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thin-corpus-callosum" }, { "slug": "typical-absence-seizure", "name": "Typical absence seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/typical-absence-seizure" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 3, "url": "https://dantelabs.com/sv/genes/atp1a3" }, { "slug": "cacna1a", "symbol": "CACNA1A", "name": "calcium voltage-gated channel subunit alpha1 A", "shared": 3, "url": "https://dantelabs.com/sv/genes/cacna1a" }, { "slug": "zfhx3", "symbol": "ZFHX3", "name": "zinc finger homeobox 3", "shared": 3, "url": "https://dantelabs.com/sv/genes/zfhx3" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/aars1" }, { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/afg3l2" }, { "slug": "atn1", "symbol": "ATN1", "name": "atrophin 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/atn1" }, { "slug": "atxn1", "symbol": "ATXN1", "name": "ataxin 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/atxn1" }, { "slug": "atxn10", "symbol": "ATXN10", "name": "ataxin 10", "shared": 2, "url": "https://dantelabs.com/sv/genes/atxn10" }, { "slug": "atxn2", "symbol": "ATXN2", "name": "ataxin 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/atxn2" }, { "slug": "atxn3", "symbol": "ATXN3", "name": "ataxin 3", "shared": 2, "url": "https://dantelabs.com/sv/genes/atxn3" }, { "slug": "atxn7", "symbol": "ATXN7", "name": "ataxin 7", "shared": 2, "url": "https://dantelabs.com/sv/genes/atxn7" }, { "slug": "bean1", "symbol": "BEAN1", "name": "brain expressed associated with NEDD4 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/bean1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }