{ "url": "https://dantelabs.com/no/genes/rbm20", "gene": { "slug": "rbm20", "symbol": "RBM20", "name": "RNA binding motif protein 20", "hgnc": "HGNC:27424", "summary": null, "location": "10q25.2", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000203867", "entrezId": 282996, "omim": [ "613171" ], "uniprot": [ "Q5T481" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 110644336, "end": 110839468, "strand": "+", "ensemblTranscript": "ENST00000369519.4", "refseqTranscript": "NM_001134363.3", "ensemblProtein": "ENSP00000358532.3", "refseqProtein": "NP_001127835.2", "exons": [ { "start": 110644336, "end": 110644645 }, { "start": 110780801, "end": 110781884 }, { "start": 110783366, "end": 110783427 }, { "start": 110784341, "end": 110784432 }, { "start": 110784792, "end": 110784889 }, { "start": 110797508, "end": 110797648 }, { "start": 110799787, "end": 110799918 }, { "start": 110810383, "end": 110810462 }, { "start": 110812278, "end": 110812947 }, { "start": 110820072, "end": 110820176 }, { "start": 110821275, "end": 110821935 }, { "start": 110823480, "end": 110823614 }, { "start": 110831061, "end": 110831182 }, { "start": 110835868, "end": 110839468 } ], "cds": { "start": 110644455, "end": 110835978 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "10", "start": 112404155, "end": 112599227, "strand": "+" }, "neighbourhood": { "release": "116", "start": 110241902, "end": 111241901, "genes": [ { "symbol": "MXI1", "ensemblId": "ENSG00000119950", "biotype": "protein_coding", "start": 110207546, "end": 110287916, "strand": "+", "slug": "mxi1" }, { "symbol": "SMNDC1", "ensemblId": "ENSG00000119953", "biotype": "protein_coding", "start": 110289425, "end": 110305001, "strand": "-", "slug": "smndc1" }, { "symbol": "DUSP5", "ensemblId": "ENSG00000138166", "biotype": "protein_coding", "start": 110497907, "end": 110511544, "strand": "+", "slug": "dusp5" }, { "symbol": "SMC3", "ensemblId": "ENSG00000108055", "biotype": "protein_coding", "start": 110567668, "end": 110606063, "strand": "+", "slug": "smc3" }, { "symbol": "PDCD4", "ensemblId": "ENSG00000150593", "biotype": "protein_coding", "start": 110871790, "end": 110900013, "strand": "+", "slug": "pdcd4" }, { "symbol": "BBIP1", "ensemblId": "ENSG00000214413", "biotype": "protein_coding", "start": 110898730, "end": 110919371, "strand": "-", "slug": "bbip1" }, { "symbol": "SHOC2", "ensemblId": "ENSG00000108061", "biotype": "protein_coding", "start": 110917932, "end": 111017314, "strand": "+", "slug": "shoc2" }, { "symbol": "ADRA2A", "ensemblId": "ENSG00000150594", "biotype": "protein_coding", "start": 111077029, "end": 111080907, "strand": "+", "slug": "adra2a" } ], "truncated": false }, "reports": [ { "slug": "dilated-cardiomyopathy", "name": "Dilatert kardiomyopati", "diseases": [ { "mondoId": "MONDO:0005021", "name": "Dilatert kardiomyopati", "genes": 50, "inheritance": null, "description": "Forstørrelse og svekkelse av venstre ventrikkel som ikke forklares av sykdom i kransarteriene eller hjerteklaffene. Arvelige former skyldes varianter i TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN og mange andre gener, og omfatter Barth syndrom og Emery-Dreifuss muskeldystrofi.", "management": "Kjennskap til en genetisk årsak støtter tidligere hjerteoppfølging og screening av familiemedlemmer. For gener med høy risiko for arytmi, som LMNA, FLNC og RBM20, er den til hjelp ved beslutninger om rytmeovervåking og implanterbare defibrillatorer.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 11 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/no/conditions/dilated-cardiomyopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "emg-abnormality", "name": "EMG abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emg-abnormality" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "left-ventricular-systolic-dysfunction", "name": "Left ventricular systolic dysfunction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/left-ventricular-systolic-dysfunction" }, { "slug": "lipoatrophy", "name": "Loss of fat tissue in localized area", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lipoatrophy" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "orthopnea", "name": "Orthopnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/orthopnea" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "thromboembolic-stroke", "name": "Thromboembolic stroke", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thromboembolic-stroke" } ], "related": [ { "slug": "abcc9", "symbol": "ABCC9", "name": "ATP binding cassette subfamily C member 9", "shared": 1, "url": "https://dantelabs.com/no/genes/abcc9" }, { "slug": "actc1", "symbol": "ACTC1", "name": "actin alpha cardiac muscle 1", "shared": 1, "url": "https://dantelabs.com/no/genes/actc1" }, { "slug": "bag3", "symbol": "BAG3", "name": "BAG cochaperone 3", "shared": 1, "url": "https://dantelabs.com/no/genes/bag3" }, { "slug": "bag5", "symbol": "BAG5", "name": "BAG cochaperone 5", "shared": 1, "url": "https://dantelabs.com/no/genes/bag5" }, { "slug": "des", "symbol": "DES", "name": "desmin", "shared": 1, "url": "https://dantelabs.com/no/genes/des" }, { "slug": "dmd", "symbol": "DMD", "name": "dystrophin", "shared": 1, "url": "https://dantelabs.com/no/genes/dmd" }, { "slug": "dolk", "symbol": "DOLK", "name": "dolichol kinase", "shared": 1, "url": "https://dantelabs.com/no/genes/dolk" }, { "slug": "emd", "symbol": "EMD", "name": "emerin", "shared": 1, "url": "https://dantelabs.com/no/genes/emd" }, { "slug": "fhl1", "symbol": "FHL1", "name": "four and a half LIM domains 1", "shared": 1, "url": "https://dantelabs.com/no/genes/fhl1" }, { "slug": "fktn", "symbol": "FKTN", "name": "fukutin", "shared": 1, "url": "https://dantelabs.com/no/genes/fktn" }, { "slug": "flii", "symbol": "FLII", "name": "FLII actin remodeling protein", "shared": 1, "url": "https://dantelabs.com/no/genes/flii" }, { "slug": "flnc", "symbol": "FLNC", "name": "filamin C", "shared": 1, "url": "https://dantelabs.com/no/genes/flnc" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 7, "url": "https://dantelabs.com/genes/rbm20/variants", "items": [ { "slug": "e913k", "name": "E913K", "commonName": null, "symbol": "RBM20", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2737G>A", "position": 110821356, "grch37Position": 112581114, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/rbm20/variants/e913k" }, { "slug": "m905k", "name": "M905K", "commonName": null, "symbol": "RBM20", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.2714T>A", "position": 110821333, "grch37Position": 112581091, "part": { "kind": "exon", "number": 11 }, "url": "https://dantelabs.com/genes/rbm20/variants/m905k" }, { "slug": "p638l", "name": "P638L", "commonName": null, "symbol": "RBM20", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1913C>T", "position": 110812310, "grch37Position": 112572068, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rbm20/variants/p638l" }, { "slug": "r634q", "name": "R634Q", "commonName": null, "symbol": "RBM20", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1901G>A", "position": 110812298, "grch37Position": 112572056, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rbm20/variants/r634q" }, { "slug": "r636h", "name": "R636H", "commonName": null, "symbol": "RBM20", "classification": "pathogenic", "stars": 2, "hgvsC": "c.1907G>A", "position": 110812304, "grch37Position": 112572062, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rbm20/variants/r636h" }, { "slug": "r636l", "name": "R636L", "commonName": null, "symbol": "RBM20", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.1907G>T", "position": 110812304, "grch37Position": 112572062, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rbm20/variants/r636l" }, { "slug": "r726x", "name": "R726X", "commonName": null, "symbol": "RBM20", "classification": "pathogenic", "stars": 2, "hgvsC": "c.2176C>T", "position": 110812573, "grch37Position": 112572331, "part": { "kind": "exon", "number": 9 }, "url": "https://dantelabs.com/genes/rbm20/variants/r726x" } ] } }