{ "url": "https://dantelabs.com/sv/genes/hikeshi", "gene": { "slug": "hikeshi", "symbol": "HIKESHI", "name": "heat shock protein nuclear import factor hikeshi", "hgnc": "HGNC:26938", "summary": null, "location": "11q14.2", "locusType": "gene with protein product", "aliases": [ "HSPC138", "HSPC179", "OPI10" ], "previousSymbols": [ "C11orf73" ], "ensemblId": "ENSG00000149196", "entrezId": 51501, "omim": [ "614908" ], "uniprot": [ "Q53FT3" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 86302240, "end": 86345943, "strand": "+", "ensemblTranscript": "ENST00000278483.8", "refseqTranscript": "NM_016401.4", "ensemblProtein": "ENSP00000278483.3", "refseqProtein": "NP_057485.2", "exons": [ { "start": 86302240, "end": 86302478 }, { "start": 86306245, "end": 86306482 }, { "start": 86337379, "end": 86337530 }, { "start": 86344603, "end": 86344721 }, { "start": 86345584, "end": 86345943 } ], "cds": { "start": 86302449, "end": 86345638 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 86013253, "end": 86056969, "strand": "+" }, "neighbourhood": { "release": "116", "start": 85824092, "end": 86824091, "genes": [ { "symbol": "CCDC83", "ensemblId": "ENSG00000150676", "biotype": "protein_coding", "start": 85828907, "end": 85920021, "strand": "+", "slug": "ccdc83" }, { "symbol": "PICALM", "ensemblId": "ENSG00000073921", "biotype": "protein_coding", "start": 85957157, "end": 86069882, "strand": "-", "slug": "picalm" }, { "symbol": "EED", "ensemblId": "ENSG00000074266", "biotype": "protein_coding", "start": 86201212, "end": 86279811, "strand": "+", "slug": "eed" }, { "symbol": "CCDC81", "ensemblId": "ENSG00000149201", "biotype": "protein_coding", "start": 86374736, "end": 86423109, "strand": "+", "slug": "ccdc81" }, { "symbol": "ME3", "ensemblId": "ENSG00000151376", "biotype": "protein_coding", "start": 86438751, "end": 86672636, "strand": "-", "slug": "me3" }, { "symbol": "PRSS23", "ensemblId": "ENSG00000150687", "biotype": "protein_coding", "start": 86791059, "end": 86954151, "strand": "+", "slug": "prss23" } ], "truncated": false }, "reports": [ { "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies", "name": "Pelizaeus-Merzbacher-sjukdom och hypomyeliniserande leukodystrofier", "diseases": [ { "mondoId": "MONDO:0014813", "name": "Hypomyeliniserande leukodystrofi 13 (HIKESHI)", "genes": 1, "inheritance": "autosomal-recessive", "description": "En sällsynt ärftlig form av hypomyeliniserande leukodystrofi, där myelinet i hjärnan inte bildas normalt, vilket orsakar försenad utveckling och rörelseproblem.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "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": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/inherited-neurodegenerative-disorders-selected-genes" }, { "slug": "leukodystrophy", "name": "Andra ärftliga leukodystrofier", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodystrofi (andra och ej specificerade typer)", "genes": 80, "inheritance": null, "description": "Ärftliga tillstånd som skadar eller förhindrar den normala bildningen av myelin, den vita substansen i hjärnan och ryggmärgen. Olika typer följer autosomalt recessiv, autosomalt dominant eller X-kopplad nedärvning beroende på vilken gen som är inblandad.", "management": "Att känna till den specifika genetiska orsaken kan avsluta en diagnostisk sökning, vägleda stödjande vård och uppföljning, visa om en specifik behandling finns och göra det möjligt att testa släktingar.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-periventricular-white-matter-morphology", "name": "Abnormal periventricular white matter morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-periventricular-white-matter-morphology" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "clonus", "name": "Clonus", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/clonus" }, { "slug": "delayed-brainstem-auditory-evoked-response-conduction-time", "name": "Delayed brainstem auditory evoked response conduction time", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-brainstem-auditory-evoked-response-conduction-time" }, { "slug": "delayed-cns-myelination", "name": "Delayed CNS myelination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-cns-myelination" }, { "slug": "secondary-microcephaly", "name": "Development of small head that was not present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/secondary-microcephaly" }, { "slug": "exaggerated-startle-response", "name": "Exaggerated startle response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exaggerated-startle-response" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "joint-contracture", "name": "Joint contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-contracture" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/sv/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 2, "url": "https://dantelabs.com/sv/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 2, "url": "https://dantelabs.com/sv/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 2, "url": "https://dantelabs.com/sv/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 2, "url": "https://dantelabs.com/sv/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 2, "url": "https://dantelabs.com/sv/genes/aspa" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/sv/genes/atp11a" }, { "slug": "clcn2", "symbol": "CLCN2", "name": "chloride voltage-gated channel 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/clcn2" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }