{ "url": "https://dantelabs.com/fr/genes/agk", "gene": { "slug": "agk", "symbol": "AGK", "name": "acylglycerol kinase", "hgnc": "HGNC:21869", "summary": null, "location": "7q34", "locusType": "gene with protein product", "aliases": [ "FLJ10842" ], "previousSymbols": [ "MULK" ], "ensemblId": "ENSG00000006530", "entrezId": 55750, "omim": [ "610345" ], "uniprot": [ "Q53H12" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 141551410, "end": 141655244, "strand": "+", "ensemblTranscript": "ENST00000649286.2", "refseqTranscript": "NM_018238.4", "ensemblProtein": "ENSP00000497280.1", "refseqProtein": "NP_060708.1", "exons": [ { "start": 141551410, "end": 141551434 }, { "start": 141555453, "end": 141555567 }, { "start": 141593146, "end": 141593185 }, { "start": 141596562, "end": 141596641 }, { "start": 141601205, "end": 141601280 }, { "start": 141611195, "end": 141611287 }, { "start": 141614146, "end": 141614178 }, { "start": 141615471, "end": 141615565 }, { "start": 141621732, "end": 141621801 }, { "start": 141633901, "end": 141633980 }, { "start": 141636960, "end": 141637017 }, { "start": 141641248, "end": 141641398 }, { "start": 141641811, "end": 141641908 }, { "start": 141649263, "end": 141649333 }, { "start": 141651525, "end": 141651609 }, { "start": 141652787, "end": 141655244 } ], "cds": { "start": 141555467, "end": 141652924 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "7", "start": 141250989, "end": 141355044, "strand": "+" }, "neighbourhood": { "release": "116", "start": 141103327, "end": 142103326, "genes": [ { "symbol": "TMEM178B", "ensemblId": "ENSG00000261115", "biotype": "protein_coding", "start": 141074038, "end": 141480380, "strand": "+", "slug": "tmem178b" }, { "symbol": "DENND11", "ensemblId": "ENSG00000257093", "biotype": "protein_coding", "start": 141656728, "end": 141702185, "strand": "-", "slug": "dennd11" }, { "symbol": "WEE2", "ensemblId": "ENSG00000214102", "biotype": "protein_coding", "start": 141702227, "end": 141731271, "strand": "+", "slug": "wee2" }, { "symbol": "SSBP1", "ensemblId": "ENSG00000106028", "biotype": "protein_coding", "start": 141731899, "end": 141787922, "strand": "+", "slug": "ssbp1" }, { "symbol": "TAS2R3", "ensemblId": "ENSG00000127362", "biotype": "protein_coding", "start": 141764097, "end": 141765197, "strand": "+", "slug": "tas2r3" }, { "symbol": "TAS2R4", "ensemblId": "ENSG00000127364", "biotype": "protein_coding", "start": 141776674, "end": 141781691, "strand": "+", "slug": "tas2r4" }, { "symbol": "TAS2R5", "ensemblId": "ENSG00000127366", "biotype": "protein_coding", "start": 141790217, "end": 141791367, "strand": "+", "slug": "tas2r5" }, { "symbol": "PRSS37", "ensemblId": "ENSG00000165076", "biotype": "protein_coding", "start": 141836300, "end": 141841487, "strand": "-", "slug": "prss37" }, { "symbol": "OR9A1P", "ensemblId": "ENSG00000237621", "biotype": "protein_coding", "start": 141887148, "end": 141888092, "strand": "+", "slug": "or9a1p" }, { "symbol": "MGAM", "ensemblId": "ENSG00000257335", "biotype": "protein_coding", "start": 141907813, "end": 142106747, "strand": "+", "slug": "mgam" }, { "symbol": "OR9A4", "ensemblId": "ENSG00000258083", "biotype": "protein_coding", "start": 141916399, "end": 141920625, "strand": "+", "slug": "or9a4" }, { "symbol": "CLEC5A", "ensemblId": "ENSG00000258227", "biotype": "protein_coding", "start": 141927357, "end": 141947007, "strand": "-", "slug": "clec5a" }, { "symbol": "TAS2R38", "ensemblId": "ENSG00000257138", "biotype": "protein_coding", "start": 141972631, "end": 141973773, "strand": "-", "slug": "tas2r38" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "Maladie mitochondriale primaire", "diseases": [ { "mondoId": "MONDO:0018158", "name": "Syndrome de déplétion de l'ADN mitochondrial", "genes": 20, "inheritance": null, "description": "Causé par des variants de gènes nucléaires tels que POLG, TWNK, TK2, DGUOK, MPV17, RRM2B et SUCLA2, qui réduisent la quantité d'ADN mitochondrial et peuvent provoquer une maladie musculaire, hépatique ou cérébrale.", "management": "Ce résultat a des implications concrètes : le valproate doit être évité en cas de maladie liée à POLG en raison du risque d'insuffisance hépatique fatale, et le déficit en TK2 dispose d'un traitement par nucléosides.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/primary-mitochondrial-disease" }, { "slug": "syndromic-and-metabolic-cardiomyopathies", "name": "Cardiomyopathies syndromiques et métaboliques", "diseases": [ { "mondoId": "MONDO:0008922", "name": "Syndrome de Sengers", "genes": 1, "inheritance": "autosomal-recessive", "description": "Une maladie mitochondriale causée par des modifications de AGK qui associe une cardiomyopathie hypertrophique, des cataractes et une intolérance à l'effort à une acidose lactique.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/syndromic-and-metabolic-cardiomyopathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "3-methylglutaconic-aciduria", "name": "3-Methylglutaconic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/3-methylglutaconic-aciduria" }, { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "developmental-cataract", "name": "Clouding of the lens of the eye at birth", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-cataract" }, { "slug": "corneal-dystrophy", "name": "Corneal dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/corneal-dystrophy" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "slug": "decreased-activity-of-mitochondrial-complex-i", "name": "Decreased activity of mitochondrial complex I", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i" }, { "slug": "decreased-activity-of-mitochondrial-complex-iii", "name": "Decreased activity of mitochondrial complex III", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iii" }, { "slug": "decreased-activity-of-mitochondrial-complex-iv", "name": "Decreased activity of mitochondrial complex IV", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv" }, { "slug": "depletion-of-mitochondrial-dna-in-muscle-tissue", "name": "Depletion of mitochondrial DNA in muscle tissue", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/depletion-of-mitochondrial-dna-in-muscle-tissue" }, { "slug": "premature-ovarian-insufficiency", "name": "Early menopause", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "exercise-induced-lactic-acidemia", "name": "Exercise-induced lactic acidemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/exercise-induced-lactic-acidemia" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "generalized-muscle-weakness", "name": "Generalized muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-muscle-weakness" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "cardiac-arrest", "name": "Heart stops beating", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cardiac-arrest" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "pulmonary-arterial-hypertension", "name": "Increased blood pressure in blood vessels of lungs", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "mitochondrial-myopathy", "name": "Mitochondrial myopathy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/mitochondrial-myopathy" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "easy-fatigability", "name": "Tired easily", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/easy-fatigability" } ], "related": [ { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/afg3l2" }, { "slug": "dguok", "symbol": "DGUOK", "name": "deoxyguanosine kinase", "shared": 1, "url": "https://dantelabs.com/fr/genes/dguok" }, { "slug": "dna2", "symbol": "DNA2", "name": "DNA replication helicase/nuclease 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/dna2" }, { "slug": "fbxl4", "symbol": "FBXL4", "name": "F-box and leucine rich repeat protein 4", "shared": 1, "url": "https://dantelabs.com/fr/genes/fbxl4" }, { "slug": "guk1", "symbol": "GUK1", "name": "guanylate kinase 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/guk1" }, { "slug": "lig3", "symbol": "LIG3", "name": "DNA ligase 3", "shared": 1, "url": "https://dantelabs.com/fr/genes/lig3" }, { "slug": "mgme1", "symbol": "MGME1", "name": "mitochondrial genome maintenance exonuclease 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/mgme1" }, { "slug": "mpv17", "symbol": "MPV17", "name": "mitochondrial inner membrane protein MPV17", "shared": 1, "url": "https://dantelabs.com/fr/genes/mpv17" }, { "slug": "mrm2", "symbol": "MRM2", "name": "mitochondrial rRNA methyltransferase 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/mrm2" }, { "slug": "opa1", "symbol": "OPA1", "name": "OPA1 mitochondrial dynamin like GTPase", "shared": 1, "url": "https://dantelabs.com/fr/genes/opa1" }, { "slug": "polg", "symbol": "POLG", "name": "DNA polymerase gamma, catalytic subunit", "shared": 1, "url": "https://dantelabs.com/fr/genes/polg" }, { "slug": "rrm2b", "symbol": "RRM2B", "name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B", "shared": 1, "url": "https://dantelabs.com/fr/genes/rrm2b" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }