{ "url": "https://dantelabs.com/sv/genes/ufm1", "gene": { "slug": "ufm1", "symbol": "UFM1", "name": "ubiquitin fold modifier 1", "hgnc": "HGNC:20597", "summary": null, "location": "13q13.3", "locusType": "gene with protein product", "aliases": [ "bA131P10.1" ], "previousSymbols": [ "C13orf20" ], "ensemblId": "ENSG00000120686", "entrezId": 51569, "omim": [ "610553" ], "uniprot": [ "P61960" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "13", "start": 38349851, "end": 38363619, "strand": "+", "ensemblTranscript": "ENST00000239878.9", "refseqTranscript": "NM_016617.4", "ensemblProtein": "ENSP00000239878.4", "refseqProtein": "NP_057701.1", "exons": [ { "start": 38349851, "end": 38349921 }, { "start": 38349999, "end": 38350055 }, { "start": 38354239, "end": 38354296 }, { "start": 38358093, "end": 38358132 }, { "start": 38359301, "end": 38359333 }, { "start": 38360711, "end": 38363619 } ], "cds": { "start": 38349920, "end": 38360778 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "13", "start": 38923986, "end": 38937140, "strand": "+" }, "neighbourhood": { "release": "116", "start": 37856735, "end": 38856734, "genes": [ { "symbol": "TRPC4", "ensemblId": "ENSG00000133107", "biotype": "protein_coding", "start": 37632063, "end": 37870344, "strand": "-", "slug": "trpc4" }, { "symbol": "FREM2", "ensemblId": "ENSG00000150893", "biotype": "protein_coding", "start": 38687070, "end": 38887131, "strand": "+", "slug": "frem2" } ], "truncated": false }, "reports": [ { "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies", "name": "Pelizaeus-Merzbacher-sjukdom och hypomyeliniserande leukodystrofier", "diseases": [ { "mondoId": "MONDO:0033486", "name": "Hypomyeliniserande leukodystrofi 14 (UFM1)", "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", "G2P", "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": "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", "G2P", "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": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-insufficiency" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/sv/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/sv/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/sv/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/sv/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 1, "url": "https://dantelabs.com/sv/genes/aspa" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 1, "url": "https://dantelabs.com/sv/genes/atp11a" }, { "slug": "clcn2", "symbol": "CLCN2", "name": "chloride voltage-gated channel 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/clcn2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }