{ "url": "https://dantelabs.com/no/genes/agrn", "gene": { "slug": "agrn", "symbol": "AGRN", "name": "agrin", "hgnc": "HGNC:329", "summary": null, "location": "1p36.33", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "AGRIN" ], "ensemblId": "ENSG00000188157", "entrezId": 375790, "omim": [ "103320" ], "uniprot": [ "O00468" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 1020120, "end": 1056116, "strand": "+", "ensemblTranscript": "ENST00000379370.7", "refseqTranscript": "NM_198576.4", "ensemblProtein": "ENSP00000368678.2", "refseqProtein": "NP_940978.2", "exons": [ { "start": 1020120, "end": 1020373 }, { "start": 1022201, "end": 1022462 }, { "start": 1035277, "end": 1035324 }, { "start": 1040665, "end": 1040880 }, { "start": 1041173, "end": 1041397 }, { "start": 1041478, "end": 1041702 }, { "start": 1041956, "end": 1042162 }, { "start": 1043239, "end": 1043457 }, { "start": 1043538, "end": 1043732 }, { "start": 1043823, "end": 1044023 }, { "start": 1044109, "end": 1044257 }, { "start": 1044334, "end": 1044439 }, { "start": 1045161, "end": 1045277 }, { "start": 1045359, "end": 1045523 }, { "start": 1045733, "end": 1045876 }, { "start": 1045964, "end": 1046088 }, { "start": 1046160, "end": 1046265 }, { "start": 1046397, "end": 1046735 }, { "start": 1046820, "end": 1046957 }, { "start": 1047327, "end": 1047454 }, { "start": 1047573, "end": 1047687 }, { "start": 1047776, "end": 1047895 }, { "start": 1048012, "end": 1048365 }, { "start": 1048867, "end": 1049059 }, { "start": 1049236, "end": 1049451 }, { "start": 1049566, "end": 1049795 }, { "start": 1049903, "end": 1050037 }, { "start": 1050233, "end": 1050329 }, { "start": 1050427, "end": 1050591 }, { "start": 1050726, "end": 1050837 }, { "start": 1051253, "end": 1051369 }, { "start": 1051453, "end": 1051645 }, { "start": 1051728, "end": 1051815 }, { "start": 1053753, "end": 1053977 }, { "start": 1054448, "end": 1054551 }, { "start": 1054824, "end": 1056116 } ], "cds": { "start": 1020173, "end": 1054981 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 955503, "end": 991496, "strand": "+" }, "neighbourhood": { "release": "116", "start": 538118, "end": 1538117, "genes": [ { "symbol": "OR4F16", "ensemblId": "ENSG00000284662", "biotype": "protein_coding", "start": 685716, "end": 686654, "strand": "-", "slug": "or4f16" }, { "symbol": "SAMD11", "ensemblId": "ENSG00000187634", "biotype": "protein_coding", "start": 923895, "end": 944590, "strand": "+", "slug": "samd11" }, { "symbol": "NOC2L", "ensemblId": "ENSG00000188976", "biotype": "protein_coding", "start": 943527, "end": 960714, "strand": "-", "slug": "noc2l" }, { "symbol": "KLHL17", "ensemblId": "ENSG00000187961", "biotype": "protein_coding", "start": 960555, "end": 965721, "strand": "+", "slug": "klhl17" }, { "symbol": "PLEKHN1", "ensemblId": "ENSG00000187583", "biotype": "protein_coding", "start": 966437, "end": 975865, "strand": "+", "slug": "plekhn1" }, { "symbol": "PERM1", "ensemblId": "ENSG00000187642", "biotype": "protein_coding", "start": 975194, "end": 982137, "strand": "-", "slug": "perm1" }, { "symbol": "HES4", "ensemblId": "ENSG00000188290", "biotype": "protein_coding", "start": 998962, "end": 1000825, "strand": "-", "slug": "hes4" }, { "symbol": "ISG15", "ensemblId": "ENSG00000187608", "biotype": "protein_coding", "start": 1001138, "end": 1014540, "strand": "+", "slug": "isg15" }, { "symbol": "RNF223", "ensemblId": "ENSG00000237330", "biotype": "protein_coding", "start": 1070967, "end": 1074306, "strand": "-", "slug": "rnf223" }, { "symbol": "C1orf159", "ensemblId": "ENSG00000131591", "biotype": "protein_coding", "start": 1081811, "end": 1116361, "strand": "-", "slug": "c1orf159" }, { "symbol": "TTLL10", "ensemblId": "ENSG00000162571", "biotype": "protein_coding", "start": 1173880, "end": 1197940, "strand": "+", "slug": "ttll10" }, { "symbol": "TNFRSF18", "ensemblId": "ENSG00000186891", "biotype": "protein_coding", "start": 1203508, "end": 1206814, "strand": "-", "slug": "tnfrsf18" }, { "symbol": "TNFRSF4", "ensemblId": "ENSG00000186827", "biotype": "protein_coding", "start": 1211326, "end": 1214153, "strand": "-", "slug": "tnfrsf4" }, { "symbol": "SDF4", "ensemblId": "ENSG00000078808", "biotype": "protein_coding", "start": 1216887, "end": 1240964, "strand": "-", "slug": "sdf4" }, { "symbol": "B3GALT6", "ensemblId": "ENSG00000176022", "biotype": "protein_coding", "start": 1232237, "end": 1235041, "strand": "+", "slug": "b3galt6" }, { "symbol": "C1QTNF12", "ensemblId": "ENSG00000184163", "biotype": "protein_coding", "start": 1242446, "end": 1246934, "strand": "-", "slug": "c1qtnf12" }, { "symbol": "UBE2J2", "ensemblId": "ENSG00000160087", "biotype": "protein_coding", "start": 1253907, "end": 1274477, "strand": "-", "slug": "ube2j2" }, { "symbol": "SCNN1D", "ensemblId": "ENSG00000162572", "biotype": "protein_coding", "start": 1280436, "end": 1292029, "strand": "+", "slug": "scnn1d" }, { "symbol": "ACAP3", "ensemblId": "ENSG00000131584", "biotype": "protein_coding", "start": 1292376, "end": 1309609, "strand": "-", "slug": "acap3" }, { "symbol": "PUSL1", "ensemblId": "ENSG00000169972", "biotype": "protein_coding", "start": 1308547, "end": 1311679, "strand": "+", "slug": "pusl1" }, { "symbol": "INTS11", "ensemblId": "ENSG00000127054", "biotype": "protein_coding", "start": 1311585, "end": 1324688, "strand": "-", "slug": "ints11" }, { "symbol": "CPTP", "ensemblId": "ENSG00000224051", "biotype": "protein_coding", "start": 1324756, "end": 1328897, "strand": "+", "slug": "cptp" }, { "symbol": "TAS1R3", "ensemblId": "ENSG00000169962", "biotype": "protein_coding", "start": 1331275, "end": 1335314, "strand": "+", "slug": "tas1r3" }, { "symbol": "DVL1", "ensemblId": "ENSG00000107404", "biotype": "protein_coding", "start": 1335275, "end": 1349962, "strand": "-", "slug": "dvl1" }, { "symbol": "MXRA8", "ensemblId": "ENSG00000162576", "biotype": "protein_coding", "start": 1352683, "end": 1361800, "strand": "-", "slug": "mxra8" }, { "symbol": "AURKAIP1", "ensemblId": "ENSG00000175756", "biotype": "protein_coding", "start": 1373710, "end": 1375521, "strand": "-", "slug": "aurkaip1" }, { "symbol": "CCNL2", "ensemblId": "ENSG00000221978", "biotype": "protein_coding", "start": 1385709, "end": 1400909, "strand": "-", "slug": "ccnl2" }, { "symbol": "MRPL20", "ensemblId": "ENSG00000242485", "biotype": "protein_coding", "start": 1401907, "end": 1407306, "strand": "-", "slug": "mrpl20" }, { "symbol": "ANKRD65", "ensemblId": "ENSG00000235098", "biotype": "protein_coding", "start": 1415637, "end": 1421769, "strand": "-", "slug": "ankrd65" }, { "symbol": "TMEM278", "ensemblId": "ENSG00000205116", "biotype": "protein_coding", "start": 1425871, "end": 1430255, "strand": "+", "slug": "tmem278" }, { "symbol": "VWA1", "ensemblId": "ENSG00000179403", "biotype": "protein_coding", "start": 1434861, "end": 1446012, "strand": "+", "slug": "vwa1" }, { "symbol": "ATAD3C", "ensemblId": "ENSG00000215915", "biotype": "protein_coding", "start": 1449689, "end": 1470163, "strand": "+", "slug": "atad3c" }, { "symbol": "ATAD3B", "ensemblId": "ENSG00000160072", "biotype": "protein_coding", "start": 1471742, "end": 1497848, "strand": "+", "slug": "atad3b" }, { "symbol": "ATAD3A", "ensemblId": "ENSG00000197785", "biotype": "protein_coding", "start": 1512118, "end": 1534689, "strand": "+", "slug": "atad3a" }, { "symbol": "TMEM240", "ensemblId": "ENSG00000205090", "biotype": "protein_coding", "start": 1534778, "end": 1540624, "strand": "-", "slug": "tmem240" } ], "truncated": false }, "reports": [ { "slug": "congenital-myasthenic-syndrome", "name": "Kongenitt myasthent syndrom", "diseases": [ { "mondoId": "MONDO:0014052", "name": "Kongenitt myasthent syndrom 8", "genes": 1, "inheritance": "autosomal-recessive", "description": "Ethvert kongenitt myasthent syndrom der sykdommen skyldes en mutasjon i AGRN-genet.", "management": null, "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0018940", "name": "Medfødt myasteniskt syndrom (alle typer)", "genes": 27, "inheritance": null, "description": "Samlebegrep som dekker alle medfødte myasteniske syndromer, inkludert de vanlige formene med CHRNE, RAPSN, DOK7 og MUSK.", "management": "Mange former reagerer på spesifikke legemidler, som pyridostigmin, salbutamol eller efedrin, og riktig valg avhenger av hvilket gen som er involvert.", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/no/conditions/congenital-myasthenic-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "difficulty-running", "name": "Difficulty running", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/difficulty-running" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation", "name": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "narrow-chest", "name": "Narrow chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/narrow-chest" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "easy-fatigability", "name": "Tired easily", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/easy-fatigability" }, { "slug": "weakness-of-facial-musculature", "name": "Weakness of facial musculature", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/weakness-of-facial-musculature" } ], "related": [ { "slug": "alg14", "symbol": "ALG14", "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/no/genes/alg14" }, { "slug": "alg2", "symbol": "ALG2", "name": "ALG2 alpha-1,3/1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/no/genes/alg2" }, { "slug": "chat", "symbol": "CHAT", "name": "choline O-acetyltransferase", "shared": 1, "url": "https://dantelabs.com/no/genes/chat" }, { "slug": "chrna1", "symbol": "CHRNA1", "name": "cholinergic receptor nicotinic alpha 1 subunit", "shared": 1, "url": "https://dantelabs.com/no/genes/chrna1" }, { "slug": "chrnb1", "symbol": "CHRNB1", "name": "cholinergic receptor nicotinic beta 1 subunit", "shared": 1, "url": "https://dantelabs.com/no/genes/chrnb1" }, { "slug": "chrnd", "symbol": "CHRND", "name": "cholinergic receptor nicotinic delta subunit", "shared": 1, "url": "https://dantelabs.com/no/genes/chrnd" }, { "slug": "chrne", "symbol": "CHRNE", "name": "cholinergic receptor nicotinic epsilon subunit", "shared": 1, "url": "https://dantelabs.com/no/genes/chrne" }, { "slug": "col13a1", "symbol": "COL13A1", "name": "collagen type XIII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/no/genes/col13a1" }, { "slug": "colq", "symbol": "COLQ", "name": "collagen like tail subunit of asymmetric acetylcholinesterase", "shared": 1, "url": "https://dantelabs.com/no/genes/colq" }, { "slug": "dok7", "symbol": "DOK7", "name": "docking protein 7", "shared": 1, "url": "https://dantelabs.com/no/genes/dok7" }, { "slug": "dpagt1", "symbol": "DPAGT1", "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1", "shared": 1, "url": "https://dantelabs.com/no/genes/dpagt1" }, { "slug": "gfpt1", "symbol": "GFPT1", "name": "glutamine--fructose-6-phosphate transaminase 1", "shared": 1, "url": "https://dantelabs.com/no/genes/gfpt1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }