{ "url": "https://dantelabs.com/fi/genes/frrs1l", "gene": { "slug": "frrs1l", "symbol": "FRRS1L", "name": "ferric chelate reductase 1 like", "hgnc": "HGNC:1362", "summary": null, "location": "9q31.3", "locusType": "gene with protein product", "aliases": [ "CG-6" ], "previousSymbols": [ "C9orf4" ], "ensemblId": "ENSG00000260230", "entrezId": 23732, "omim": [ "604574" ], "uniprot": [ "Q9P0K9" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "9", "start": 109130293, "end": 109167249, "strand": "-", "ensemblTranscript": "ENST00000561981.5", "refseqTranscript": "NM_014334.4", "ensemblProtein": "ENSP00000477141.2", "refseqProtein": "NP_055149.3", "exons": [ { "start": 109130293, "end": 109137627 }, { "start": 109141343, "end": 109141589 }, { "start": 109147051, "end": 109147189 }, { "start": 109149636, "end": 109149720 }, { "start": 109166901, "end": 109167249 } ], "cds": { "start": 109137455, "end": 109167138 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "9", "start": 111892573, "end": 111929571, "strand": "-" }, "neighbourhood": { "release": "116", "start": 108648771, "end": 109648770, "genes": [ { "symbol": "ACTL7B", "ensemblId": "ENSG00000148156", "biotype": "protein_coding", "start": 108854588, "end": 108855986, "strand": "-", "slug": "actl7b" }, { "symbol": "ACTL7A", "ensemblId": "ENSG00000187003", "biotype": "protein_coding", "start": 108862266, "end": 108863756, "strand": "+", "slug": "actl7a" }, { "symbol": "ELP1", "ensemblId": "ENSG00000070061", "biotype": "protein_coding", "start": 108866898, "end": 108934414, "strand": "-", "slug": "elp1" }, { "symbol": "ABITRAM", "ensemblId": "ENSG00000119328", "biotype": "protein_coding", "start": 108934130, "end": 108950941, "strand": "+", "slug": "abitram" }, { "symbol": "CTNNAL1", "ensemblId": "ENSG00000119326", "biotype": "protein_coding", "start": 108942569, "end": 109013645, "strand": "-", "slug": "ctnnal1" }, { "symbol": "TMEM245", "ensemblId": "ENSG00000106771", "biotype": "protein_coding", "start": 109015135, "end": 109119975, "strand": "-", "slug": "tmem245" }, { "symbol": "EPB41L4B", "ensemblId": "ENSG00000095203", "biotype": "protein_coding", "start": 109171463, "end": 109321068, "strand": "-", "slug": "epb41l4b" }, { "symbol": "PTPN3", "ensemblId": "ENSG00000070159", "biotype": "protein_coding", "start": 109375464, "end": 109498343, "strand": "-", "slug": "ptpn3" }, { "symbol": "PALM2AKAP2", "ensemblId": "ENSG00000157654", "biotype": "protein_coding", "start": 109498325, "end": 110172512, "strand": "+", "slug": "palm2akap2" } ], "truncated": false }, "reports": [ { "slug": "epilepsy-report", "name": "Epilepsia (laaja paneeli)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsia", "genes": 171, "inheritance": null, "description": "Aivosairaus, jolle on tyypillistä hermosolujen epänormaalin voimakkaan purkautumisen aiheuttamat jaksot. Ne aiheuttavat ohimeneviä aistihermoston tai motoriikan neurologisia toimintahäiriöitä tai psyykkisiä toimintahäiriöitä. Jaksoihin voi liittyä tajunnan menetys tai kouristuksia, mutta näin ei aina ole.", "management": null, "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/fi/conditions/epilepsy-report" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "chorea", "name": "Chorea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chorea" }, { "slug": "choreoathetosis", "name": "Choreoathetosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/choreoathetosis" }, { "slug": "cogwheel-rigidity", "name": "Cogwheel rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cogwheel-rigidity" }, { "slug": "hypokinesia", "name": "Decreased muscle movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypokinesia" }, { "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": "epileptic-encephalopathy", "name": "Epileptic encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/epileptic-encephalopathy" }, { "slug": "focal-hemiclonic-seizure", "name": "Focal hemiclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-hemiclonic-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": "occasional", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "hyperkinetic-movements", "name": "Hyperactive movements", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyperkinetic-movements" }, { "slug": 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"frequency": "frequent", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "multifocal-seizures", "name": "Multifocal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/multifocal-seizures" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/rigidity" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "name": "4-aminobutyrate aminotransferase", "shared": 1, "url": "https://dantelabs.com/fi/genes/abat" }, { "slug": "actl6b", "symbol": "ACTL6B", "name": "actin like 6B", "shared": 1, "url": "https://dantelabs.com/fi/genes/actl6b" }, { "slug": "adam22", "symbol": "ADAM22", "name": "ADAM metallopeptidase domain 22", "shared": 1, "url": "https://dantelabs.com/fi/genes/adam22" }, { "slug": "aldh7a1", "symbol": "ALDH7A1", "name": "aldehyde dehydrogenase 7 family member A1", "shared": 1, "url": "https://dantelabs.com/fi/genes/aldh7a1" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/fi/genes/alg13" }, { "slug": "ap3b2", "symbol": "AP3B2", "name": "adaptor related protein complex 3 subunit beta 2", "shared": 1, "url": "https://dantelabs.com/fi/genes/ap3b2" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/fi/genes/arhgef9" }, { "slug": "arv1", "symbol": "ARV1", "name": "ARV1 fatty acid homeostasis modulator", "shared": 1, "url": "https://dantelabs.com/fi/genes/arv1" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 1, "url": "https://dantelabs.com/fi/genes/arx" }, { "slug": "atp1a2", "symbol": "ATP1A2", "name": "ATPase Na+/K+ transporting subunit alpha 2", "shared": 1, "url": "https://dantelabs.com/fi/genes/atp1a2" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/fi/genes/atp1a3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }