{
  "url": "https://dantelabs.com/fi/genes/slc25a20",
  "gene": {
    "slug": "slc25a20",
    "symbol": "SLC25A20",
    "name": "solute carrier family 25 member 20",
    "hgnc": "HGNC:1421",
    "summary": null,
    "location": "3p21.31",
    "locusType": "gene with protein product",
    "aliases": [
      "CAC"
    ],
    "previousSymbols": [
      "CACT"
    ],
    "ensemblId": "ENSG00000178537",
    "entrezId": 788,
    "omim": [
      "613698"
    ],
    "uniprot": [
      "O43772"
    ],
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      "release": "v1.5",
      "chrom": "3",
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      "end": 48898882,
      "strand": "-",
      "ensemblTranscript": "ENST00000319017.5",
      "refseqTranscript": "NM_000387.6",
      "ensemblProtein": "ENSP00000326305.4",
      "refseqProtein": "NP_000378.1",
      "exons": [
        {
          "start": 48856926,
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        {
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    },
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      "build": "GRCh37",
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      "strand": "-"
    },
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        {
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        {
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        {
          "symbol": "TMA7",
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        {
          "symbol": "ATRIP",
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          "strand": "+",
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        {
          "symbol": "SHISA5",
          "ensemblId": "ENSG00000164054",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "shisa5"
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        {
          "symbol": "TREX1",
          "ensemblId": "ENSG00000213689",
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        {
          "symbol": "PFKFB4",
          "ensemblId": "ENSG00000114268",
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          "start": 48517668,
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          "strand": "-",
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        {
          "symbol": "UCN2",
          "ensemblId": "ENSG00000145040",
          "biotype": "protein_coding",
          "start": 48561718,
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          "slug": "ucn2"
        },
        {
          "symbol": "COL7A1",
          "ensemblId": "ENSG00000114270",
          "biotype": "protein_coding",
          "start": 48564073,
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          "strand": "-",
          "slug": "col7a1"
        },
        {
          "symbol": "UQCRC1",
          "ensemblId": "ENSG00000010256",
          "biotype": "protein_coding",
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        {
          "symbol": "TMEM89",
          "ensemblId": "ENSG00000183396",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "tmem89"
        },
        {
          "symbol": "SLC26A6",
          "ensemblId": "ENSG00000225697",
          "biotype": "protein_coding",
          "start": 48625718,
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          "strand": "-",
          "slug": "slc26a6"
        },
        {
          "symbol": "CELSR3",
          "ensemblId": "ENSG00000008300",
          "biotype": "protein_coding",
          "start": 48636463,
          "end": 48662886,
          "strand": "-",
          "slug": "celsr3"
        },
        {
          "symbol": "NCKIPSD",
          "ensemblId": "ENSG00000213672",
          "biotype": "protein_coding",
          "start": 48662986,
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          "strand": "-",
          "slug": "nckipsd"
        },
        {
          "symbol": "IP6K2",
          "ensemblId": "ENSG00000068745",
          "biotype": "protein_coding",
          "start": 48688003,
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          "strand": "-",
          "slug": "ip6k2"
        },
        {
          "symbol": "PRKAR2A",
          "ensemblId": "ENSG00000114302",
          "biotype": "protein_coding",
          "start": 48744591,
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          "strand": "-",
          "slug": "prkar2a"
        },
        {
          "symbol": "ARIH2",
          "ensemblId": "ENSG00000177479",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "arih2"
        },
        {
          "symbol": "P4HTM",
          "ensemblId": "ENSG00000178467",
          "biotype": "protein_coding",
          "start": 48989858,
          "end": 49007153,
          "strand": "+",
          "slug": "p4htm"
        },
        {
          "symbol": "WDR6",
          "ensemblId": "ENSG00000178252",
          "biotype": "protein_coding",
          "start": 49007062,
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          "strand": "+",
          "slug": "wdr6"
        },
        {
          "symbol": "DALRD3",
          "ensemblId": "ENSG00000178149",
          "biotype": "protein_coding",
          "start": 49015474,
          "end": 49022293,
          "strand": "-",
          "slug": "dalrd3"
        },
        {
          "symbol": "NDUFAF3",
          "ensemblId": "ENSG00000178057",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "ndufaf3"
        },
        {
          "symbol": "IMPDH2",
          "ensemblId": "ENSG00000178035",
          "biotype": "protein_coding",
          "start": 49024315,
          "end": 49029452,
          "strand": "-",
          "slug": "impdh2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000290315",
          "biotype": "protein_coding",
          "start": 49024345,
          "end": 49094071,
          "strand": "-"
        },
        {
          "symbol": "QRICH1",
          "ensemblId": "ENSG00000198218",
          "biotype": "protein_coding",
          "start": 49029700,
          "end": 49094545,
          "strand": "-",
          "slug": "qrich1"
        },
        {
          "symbol": "QARS1",
          "ensemblId": "ENSG00000172053",
          "biotype": "protein_coding",
          "start": 49095932,
          "end": 49105130,
          "strand": "-",
          "slug": "qars1"
        },
        {
          "symbol": "USP19",
          "ensemblId": "ENSG00000172046",
          "biotype": "protein_coding",
          "start": 49105758,
          "end": 49120940,
          "strand": "-",
          "slug": "usp19"
        },
        {
          "symbol": "LAMB2",
          "ensemblId": "ENSG00000172037",
          "biotype": "protein_coding",
          "start": 49121113,
          "end": 49133118,
          "strand": "-",
          "slug": "lamb2"
        },
        {
          "symbol": "CCDC71",
          "ensemblId": "ENSG00000177352",
          "biotype": "protein_coding",
          "start": 49161063,
          "end": 49166357,
          "strand": "-",
          "slug": "ccdc71"
        },
        {
          "symbol": "KLHDC8B",
          "ensemblId": "ENSG00000185909",
          "biotype": "protein_coding",
          "start": 49171239,
          "end": 49176487,
          "strand": "+",
          "slug": "klhdc8b"
        },
        {
          "symbol": "CIMIP7",
          "ensemblId": "ENSG00000236980",
          "biotype": "protein_coding",
          "start": 49177634,
          "end": 49191858,
          "strand": "-",
          "slug": "cimip7"
        },
        {
          "symbol": "IHO1",
          "ensemblId": "ENSG00000173421",
          "biotype": "protein_coding",
          "start": 49198428,
          "end": 49277629,
          "strand": "+",
          "slug": "iho1"
        },
        {
          "symbol": "C3orf62",
          "ensemblId": "ENSG00000188315",
          "biotype": "protein_coding",
          "start": 49268596,
          "end": 49277236,
          "strand": "-",
          "slug": "c3orf62"
        },
        {
          "symbol": "USP4",
          "ensemblId": "ENSG00000114316",
          "biotype": "protein_coding",
          "start": 49277144,
          "end": 49340712,
          "strand": "-",
          "slug": "usp4"
        },
        {
          "symbol": "GPX1",
          "ensemblId": "ENSG00000233276",
          "biotype": "protein_coding",
          "start": 49357174,
          "end": 49358605,
          "strand": "-",
          "slug": "gpx1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000290318",
          "biotype": "protein_coding",
          "start": 49357176,
          "end": 49412051,
          "strand": "-"
        },
        {
          "symbol": "RHOA",
          "ensemblId": "ENSG00000067560",
          "biotype": "protein_coding",
          "start": 49359136,
          "end": 49412998,
          "strand": "-",
          "slug": "rhoa"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "fatty-acid-oxidation-and-carnitine-cycle-disorders",
        "name": "Rasvahappojen hapettumisen ja karnitiinikierron häiriöt",
        "diseases": [
          {
            "mondoId": "MONDO:0017713",
            "name": "Rasvahappojen hapettumisen ja ketogeneesin häiriöt",
            "genes": 13,
            "inheritance": "autosomal-recessive",
            "description": "Joukko entsyymi- ja kuljetusproteiinivirheitä, joihin kuuluvat MCAD-, VLCAD-, LCHAD-, SCAD- ja HADH-puutos, primaarinen karnitiinipuutos sekä karnitiini-asyylikarnitiinitranslokaasin puutos. Ne voivat aiheuttaa paastoaikana tai sairastaessa matalan verensokerin, lihasten hajoamista sekä sydän- ja maksaongelmia.",
            "management": "Kun sairaus on tiedossa, pitkittynyttä paastoa voidaan välttää, sairastumisen varalle voidaan laatia hätäsuunnitelma ja tarvittaessa voidaan muuttaa karnitiinin käyttöä tai ruokavalion rasvaa. Näin voidaan ehkäistä henkeä uhkaavia jaksoja.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/fatty-acid-oxidation-and-carnitine-cycle-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "cyanosis",
        "name": "Blue discoloration of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cyanosis"
      },
      {
        "slug": "rhabdomyolysis",
        "name": "Breakdown of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/rhabdomyolysis"
      },
      {
        "slug": "cardiorespiratory-arrest",
        "name": "Cardiorespiratory arrest",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/cardiorespiratory-arrest"
      },
      {
        "slug": "decreased-circulating-carnitine-concentration",
        "name": "Carnitine deficiency",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-carnitine-concentration"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-circulating-fatty-acylcarnitine-concentration",
        "name": "Elevated circulating fatty acylcarnitine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-fatty-acylcarnitine-concentration"
      },
      {
        "slug": "elevated-creatine-kinase-after-exercise",
        "name": "Elevated creatine kinase after exercise",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-creatine-kinase-after-exercise"
      },
      {
        "slug": "elevated-urinary-dicarboxylic-acid-level",
        "name": "Elevated urinary dicarboxylic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-dicarboxylic-acid-level"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "premature-ventricular-contraction",
        "name": "Extra heart beat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/premature-ventricular-contraction"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "cardiac-arrest",
        "name": "Heart stops beating",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cardiac-arrest"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hypoketotic-hypoglycemia",
        "name": "Hypoketotic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoketotic-hypoglycemia"
      },
      {
        "slug": "hypothermia",
        "name": "Hypothermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothermia"
      },
      {
        "slug": "atrioventricular-block",
        "name": "Interruption of electrical communication between upper and lower chambers of heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/atrioventricular-block"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "hypotension",
        "name": "Low blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotension"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "neonatal-hypoglycemia",
        "name": "Low blood sugar in newborn",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neonatal-hypoglycemia"
      },
      {
        "slug": "fasting-hypoglycemia",
        "name": "Low blood sugar when fasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fasting-hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "oliguria",
        "name": "Oliguria",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oliguria"
      },
      {
        "slug": "reduced-circulating-6-pyruvoyltetrahydropterin-synthase-activity",
        "name": "Reduced circulating 6-pyruvoyltetrahydropterin synthase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-circulating-6-pyruvoyltetrahydropterin-synthase-activity"
      },
      {
        "slug": "reduced-tissue-carnitine-acylcarnitine-translocase-activity",
        "name": "Reduced tissue carnitine-acylcarnitine translocase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-tissue-carnitine-acylcarnitine-translocase-activity"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "sudden-episodic-apnea",
        "name": "Sudden episodic apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sudden-episodic-apnea"
      },
      {
        "slug": "ventricular-hypertrophy",
        "name": "Ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/ventricular-hypertrophy"
      },
      {
        "slug": "ventricular-tachycardia",
        "name": "Ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ventricular-tachycardia"
      }
    ],
    "related": [
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/acad9"
      },
      {
        "slug": "acadm",
        "symbol": "ACADM",
        "name": "acyl-CoA dehydrogenase medium chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/acadm"
      },
      {
        "slug": "acads",
        "symbol": "ACADS",
        "name": "acyl-CoA dehydrogenase short chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/acads"
      },
      {
        "slug": "acadvl",
        "symbol": "ACADVL",
        "name": "acyl-CoA dehydrogenase very long chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/acadvl"
      },
      {
        "slug": "etfa",
        "symbol": "ETFA",
        "name": "electron transfer flavoprotein subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/etfa"
      },
      {
        "slug": "etfb",
        "symbol": "ETFB",
        "name": "electron transfer flavoprotein subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/etfb"
      },
      {
        "slug": "etfdh",
        "symbol": "ETFDH",
        "name": "electron transfer flavoprotein dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/etfdh"
      },
      {
        "slug": "hadh",
        "symbol": "HADH",
        "name": "hydroxyacyl-CoA dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/hadh"
      },
      {
        "slug": "hadha",
        "symbol": "HADHA",
        "name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/hadha"
      },
      {
        "slug": "hmgcl",
        "symbol": "HMGCL",
        "name": "3-hydroxy-3-methylglutaryl-CoA lyase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/hmgcl"
      },
      {
        "slug": "hmgcs2",
        "symbol": "HMGCS2",
        "name": "3-hydroxy-3-methylglutaryl-CoA synthase 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/hmgcs2"
      },
      {
        "slug": "slc22a5",
        "symbol": "SLC22A5",
        "name": "solute carrier family 22 member 5",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/slc22a5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}