{
  "url": "https://dantelabs.com/pl/genes/etfa",
  "gene": {
    "slug": "etfa",
    "symbol": "ETFA",
    "name": "electron transfer flavoprotein subunit alpha",
    "hgnc": "HGNC:3481",
    "summary": null,
    "location": "15q24.2-q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "GA2",
      "EMA",
      "MADD"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000140374",
    "entrezId": 2108,
    "omim": [
      "608053"
    ],
    "uniprot": [
      "P13804"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 76215353,
      "end": 76311469,
      "strand": "-",
      "ensemblTranscript": "ENST00000557943.6",
      "refseqTranscript": "NM_000126.4",
      "ensemblProtein": "ENSP00000452762.1",
      "refseqProtein": "NP_000117.1",
      "exons": [
        {
          "start": 76215353,
          "end": 76216597
        },
        {
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        },
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          "start": 76274412,
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        },
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        },
        {
          "start": 76285637,
          "end": 76285738
        },
        {
          "start": 76286371,
          "end": 76286481
        },
        {
          "start": 76287846,
          "end": 76287945
        },
        {
          "start": 76292431,
          "end": 76292513
        },
        {
          "start": 76292619,
          "end": 76292700
        },
        {
          "start": 76295591,
          "end": 76295737
        },
        {
          "start": 76311350,
          "end": 76311469
        }
      ],
      "cds": {
        "start": 76216559,
        "end": 76311388
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 76507696,
      "end": 76603813,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 75763411,
      "end": 76763410,
      "genes": [
        {
          "symbol": "UBE2Q2",
          "ensemblId": "ENSG00000140367",
          "biotype": "protein_coding",
          "start": 75843110,
          "end": 75901116,
          "strand": "+",
          "slug": "ube2q2"
        },
        {
          "symbol": "FBXO22",
          "ensemblId": "ENSG00000167196",
          "biotype": "protein_coding",
          "start": 75903853,
          "end": 75942511,
          "strand": "+",
          "slug": "fbxo22"
        },
        {
          "symbol": "NRG4",
          "ensemblId": "ENSG00000169752",
          "biotype": "protein_coding",
          "start": 75935192,
          "end": 76059800,
          "strand": "-",
          "slug": "nrg4"
        },
        {
          "symbol": "TMEM266",
          "ensemblId": "ENSG00000169758",
          "biotype": "protein_coding",
          "start": 76059916,
          "end": 76229121,
          "strand": "+",
          "slug": "tmem266"
        },
        {
          "symbol": "ISL2",
          "ensemblId": "ENSG00000159556",
          "biotype": "protein_coding",
          "start": 76336724,
          "end": 76342475,
          "strand": "+",
          "slug": "isl2"
        },
        {
          "symbol": "SCAPER",
          "ensemblId": "ENSG00000140386",
          "biotype": "protein_coding",
          "start": 76347904,
          "end": 76905970,
          "strand": "-",
          "slug": "scaper"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "fatty-acid-oxidation-and-carnitine-cycle-disorders",
        "name": "Zaburzenia utleniania kwasów tłuszczowych i cyklu karnityny",
        "diseases": [
          {
            "mondoId": "MONDO:0017713",
            "name": "Zaburzenia utleniania kwasów tłuszczowych i ketogenezy",
            "genes": 13,
            "inheritance": "autosomal-recessive",
            "description": "Grupa defektów enzymów i transporterów, w tym niedobór MCAD, VLCAD, LCHAD, SCAD i HADH, pierwotny niedobór karnityny oraz niedobór translokazy karnityna-acylokarnityna, które mogą powodować niski poziom cukru we krwi, rozpad mięśni oraz problemy serca i wątroby w okresach głodzenia lub choroby.",
            "management": "Znajomość schorzenia pozwala unikać długotrwałego głodzenia, przygotować plan postępowania na wypadek choroby oraz, jeśli to właściwe, modyfikować podaż karnityny lub tłuszczu w diecie, co może zapobiegać epizodom zagrażającym życiu.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/fatty-acid-oxidation-and-carnitine-cycle-disorders"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Kardiomiopatia przerostowa",
        "diseases": [
          {
            "mondoId": "MONDO:0005045",
            "name": "Kardiomiopatia przerostowa",
            "genes": 62,
            "inheritance": "autosomal-dominant",
            "description": "Schorzenie, w którym mięsień sercowy ulega przerostowi bez oczywistej przyczyny. Przerost jest zazwyczaj asymetryczny i może wiązać się z zaburzeniem odpływu z komory.",
            "management": "Beta-blokery, niedihydropirydynowe blokery kanału wapniowego, ograniczenie aktywności fizycznej, poradnictwo genetyczne",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/hypertrophic-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormality-of-the-genital-system",
        "name": "Abnormality of the reproductive system",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-genital-system"
      },
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "acidosis",
        "name": "Acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/acidosis"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "hypoglycemic-coma",
        "name": "Coma caused by low blood sugar",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoglycemic-coma"
      },
      {
        "slug": "telecanthus",
        "name": "Corners of eye widely separated",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/telecanthus"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "electron-transfer-flavoprotein-ubiquinone-oxidoreductase-defect",
        "name": "Electron transfer flavoprotein-ubiquinone oxidoreductase defect",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/electron-transfer-flavoprotein-ubiquinone-oxidoreductase-defect"
      },
      {
        "slug": "elevated-circulating-glutaric-acid-concentration",
        "name": "Elevated circulating glutaric acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-glutaric-acid-concentration"
      },
      {
        "slug": "elevated-urinary-5-hydroxyhexanoic-acid-level",
        "name": "Elevated urinary 5-hydroxyhexanoic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-urinary-5-hydroxyhexanoic-acid-level"
      },
      {
        "slug": "elevated-urine-3-methyladipic-acid-level",
        "name": "Elevated urine 3-methyladipic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-urine-3-methyladipic-acid-level"
      },
      {
        "slug": "elevated-urine-suberic-acid-level",
        "name": "Elevated urine suberic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urine-suberic-acid-level"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "ethylmalonic-aciduria",
        "name": "Ethylmalonic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/ethylmalonic-aciduria"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "generalized-aminoaciduria",
        "name": "Generalized aminoaciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-aminoaciduria"
      },
      {
        "slug": "gliosis",
        "name": "Gliosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gliosis"
      },
      {
        "slug": "glycosuria",
        "name": "Glucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/glycosuria"
      },
      {
        "slug": "glutaric-aciduria",
        "name": "Glutaric aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glutaric-aciduria"
      },
      {
        "slug": "hepatic-periportal-necrosis",
        "name": "Hepatic periportal necrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatic-periportal-necrosis"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "intermittent-diarrhea",
        "name": "Intermittent diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intermittent-diarrhea"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "methylmalonic-aciduria",
        "name": "Methylmalonic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/methylmalonic-aciduria"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "pancreatitis",
        "name": "Pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatitis"
      },
      {
        "slug": "polycystic-kidney-dysplasia",
        "name": "Polycystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polycystic-kidney-dysplasia"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "proximal-tubulopathy",
        "name": "Proximal tubulopathy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/proximal-tubulopathy"
      },
      {
        "slug": "renal-cortical-cysts",
        "name": "Renal cortical cysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-cortical-cysts"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "wide-anterior-fontanel",
        "name": "Wider-than-typical soft spot of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/wide-anterior-fontanel"
      }
    ],
    "related": [
      {
        "slug": "acadvl",
        "symbol": "ACADVL",
        "name": "acyl-CoA dehydrogenase very long chain",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/acadvl"
      },
      {
        "slug": "etfb",
        "symbol": "ETFB",
        "name": "electron transfer flavoprotein subunit beta",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/etfb"
      },
      {
        "slug": "etfdh",
        "symbol": "ETFDH",
        "name": "electron transfer flavoprotein dehydrogenase",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/etfdh"
      },
      {
        "slug": "hadha",
        "symbol": "HADHA",
        "name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/hadha"
      },
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/acad9"
      },
      {
        "slug": "acadm",
        "symbol": "ACADM",
        "name": "acyl-CoA dehydrogenase medium chain",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/acadm"
      },
      {
        "slug": "acads",
        "symbol": "ACADS",
        "name": "acyl-CoA dehydrogenase short chain",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/acads"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/actc1"
      },
      {
        "slug": "alpk3",
        "symbol": "ALPK3",
        "name": "alpha kinase 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/alpk3"
      },
      {
        "slug": "braf",
        "symbol": "BRAF",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/braf"
      },
      {
        "slug": "cdkn1c",
        "symbol": "CDKN1C",
        "name": "cyclin dependent kinase inhibitor 1C",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cdkn1c"
      },
      {
        "slug": "csrp3",
        "symbol": "CSRP3",
        "name": "cysteine and glycine rich protein 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/csrp3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}