{
  "url": "https://dantelabs.com/fi/genes/coq7",
  "gene": {
    "slug": "coq7",
    "symbol": "COQ7",
    "name": "coenzyme Q7, hydroxylase",
    "hgnc": "HGNC:2244",
    "summary": null,
    "location": "16p12.3",
    "locusType": "gene with protein product",
    "aliases": [
      "CLK-1",
      "CAT5"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000167186",
    "entrezId": 10229,
    "omim": [
      "601683"
    ],
    "uniprot": [
      "Q99807"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 19067614,
      "end": 19080095,
      "strand": "+",
      "ensemblTranscript": "ENST00000321998.10",
      "refseqTranscript": "NM_016138.5",
      "ensemblProtein": "ENSP00000322316.5",
      "refseqProtein": "NP_057222.2",
      "exons": [
        {
          "start": 19067614,
          "end": 19067737
        },
        {
          "start": 19071928,
          "end": 19072106
        },
        {
          "start": 19073921,
          "end": 19074035
        },
        {
          "start": 19075721,
          "end": 19075860
        },
        {
          "start": 19077306,
          "end": 19077374
        },
        {
          "start": 19078081,
          "end": 19080095
        }
      ],
      "cds": {
        "start": 19067665,
        "end": 19078158
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 19078921,
      "end": 19091417,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 18573855,
      "end": 19573854,
      "genes": [
        {
          "symbol": "RPS15A",
          "ensemblId": "ENSG00000134419",
          "biotype": "protein_coding",
          "start": 18775365,
          "end": 18790420,
          "strand": "-",
          "slug": "rps15a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000260342",
          "biotype": "protein_coding",
          "start": 18788063,
          "end": 18801519,
          "strand": "-"
        },
        {
          "symbol": "ARL6IP1",
          "ensemblId": "ENSG00000170540",
          "biotype": "protein_coding",
          "start": 18791609,
          "end": 18801572,
          "strand": "-",
          "slug": "arl6ip1"
        },
        {
          "symbol": "SMG1",
          "ensemblId": "ENSG00000157106",
          "biotype": "protein_coding",
          "start": 18804860,
          "end": 18926459,
          "strand": "-",
          "slug": "smg1"
        },
        {
          "symbol": "TMC7",
          "ensemblId": "ENSG00000170537",
          "biotype": "protein_coding",
          "start": 18983928,
          "end": 19063947,
          "strand": "+",
          "slug": "tmc7"
        },
        {
          "symbol": "ITPRIPL2",
          "ensemblId": "ENSG00000205730",
          "biotype": "protein_coding",
          "start": 19113932,
          "end": 19121629,
          "strand": "+",
          "slug": "itpripl2"
        },
        {
          "symbol": "SYT17",
          "ensemblId": "ENSG00000103528",
          "biotype": "protein_coding",
          "start": 19167971,
          "end": 19268334,
          "strand": "+",
          "slug": "syt17"
        },
        {
          "symbol": "CLEC19A",
          "ensemblId": "ENSG00000261210",
          "biotype": "protein_coding",
          "start": 19285731,
          "end": 19322145,
          "strand": "+",
          "slug": "clec19a"
        },
        {
          "symbol": "TMC5",
          "ensemblId": "ENSG00000103534",
          "biotype": "protein_coding",
          "start": 19410428,
          "end": 19499117,
          "strand": "+",
          "slug": "tmc5"
        },
        {
          "symbol": "GDE1",
          "ensemblId": "ENSG00000006007",
          "biotype": "protein_coding",
          "start": 19501681,
          "end": 19522132,
          "strand": "-",
          "slug": "gde1"
        },
        {
          "symbol": "CCP110",
          "ensemblId": "ENSG00000103540",
          "biotype": "protein_coding",
          "start": 19523808,
          "end": 19553408,
          "strand": "+",
          "slug": "ccp110"
        },
        {
          "symbol": "VPS35L",
          "ensemblId": "ENSG00000103544",
          "biotype": "protein_coding",
          "start": 19555240,
          "end": 19706793,
          "strand": "+",
          "slug": "vps35l"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Charcot-Marie-Tooth-tauti",
        "diseases": [
          {
            "mondoId": "MONDO:0018894",
            "name": "Distaalinen perinnöllinen motorinen neuropatia",
            "genes": 22,
            "inheritance": null,
            "description": "Perinnölliset neuropatiat, jotka vaikuttavat pääasiassa motorisiin hermoihin ja aiheuttavat käsien ja jalkojen heikkoutta ja surkastumista. Ryhmään kuuluu myös SORD-geeniin liittyvä neuropatia.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Strong",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primaarinen mitokondriosairaus",
        "diseases": [
          {
            "mondoId": "MONDO:0018151",
            "name": "Koentsyymi Q10:n puutos",
            "genes": 8,
            "inheritance": "autosomal-recessive",
            "description": "Aiheuttajina ovat koentsyymi Q10:n valmistukseen tarvittavien geenien, kuten COQ2, COQ8A ja PDSS2, variantit. Ne voivat aiheuttaa munuaissairauden, tasapainoongelmia, lihasheikkoutta tai aivosairauden.",
            "management": "Tieto on hyödynnettävissä: primaarinen koentsyymi Q10:n puutos voi reagoida suurina annoksina otettaviin koentsyymi Q10 -lisäravinteisiin, erityisesti kun hoito aloitetaan varhain.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/primary-mitochondrial-disease"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Perinnölliset neurodegeneratiiviset sairaudet",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "KIF5A-geenin aiheuttama neurodegeneratiivinen sairaus",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Aiheutuu muutoksesta yhdessä KIF5A-geenin kopiossa. Geeni koodaa motorista proteiinia, jolla on rakenteeseen sitoutuva häntäosa. Eri tyyppiset muutokset johtavat eri sairauksiin: perinnölliseen spastiseen parapleginen tyyppiin 10, Charcot-Marie-Toothin taudin aksonaaliseen muotoon ja amyotrofiseen lateraaliskleroosiin (ALS).",
            "management": "Hoito on oireenmukaista ja riippuu oireista. Siihen kuuluvat fysioterapia, spastisuuden lääkitys ja moniammatillinen ALS-hoito. Sairastuneen jokaisella lapsella on 1/2 todennäköisyys periä muutos. Perinnöllisyysneuvonta auttaa perheitä ymmärtämään tätä.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Strong",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Harvinaiset perinnölliset perifeeriset neuropatiat",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Perinnöllinen perifeerinen neuropatia",
            "genes": 233,
            "inheritance": null,
            "description": "Sen aiheuttavat muutokset jossakin monista geeneistä, joita tarvitaan pitkien hermosyiden terveenä pitämiseen. Tässä raportissa näihin kuuluvat IGHMBP2 ja PLEKHG5, jotka periytyvät resessiivisesti.",
            "management": "Fysioterapia, ortoosit ja toimintaterapia auttavat ylläpitämään liikkumiskykyä, ja jalkojen epämuodostumiin voidaan tarvittaessa tehdä leikkaus. Joissakin muodoissa tarvitaan hengityksen seurantaa. Geneettinen neuvonta ohjaa sukulaisten testaamista sen geenin periytymistavan mukaan.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Strong",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-renal-corticomedullary-differentiation",
        "name": "Abnormal renal corticomedullary differentiation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-renal-corticomedullary-differentiation"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "distal-lower-limb-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "distal-upper-limb-muscle-weakness",
        "name": "Distal upper limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-upper-limb-muscle-weakness"
      },
      {
        "slug": "elevated-circulating-creatinine-concentration",
        "name": "Elevated creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gowers-sign",
        "name": "Gowers sign",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gowers-sign"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hoffmann-sign",
        "name": "Hoffmann sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hoffmann-sign"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "lower-limb-amyotrophy",
        "name": "Lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-amyotrophy"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "fasciculations",
        "name": "Muscle twitch",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fasciculations"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "pain",
        "name": "Pain",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/pain"
      },
      {
        "slug": "peripheral-demyelination",
        "name": "Peripheral demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-demyelination"
      },
      {
        "slug": "polyneuropathy",
        "name": "Peripheral nerve disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/polyneuropathy"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "proximal-lower-limb-muscle-weakness",
        "name": "Proximal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proximal-lower-limb-muscle-weakness"
      },
      {
        "slug": "renal-dysplasia",
        "name": "Renal dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-dysplasia"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/atp7a"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/bscl2"
      },
      {
        "slug": "coq8a",
        "symbol": "COQ8A",
        "name": "coenzyme Q8A",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/coq8a"
      },
      {
        "slug": "dctn1",
        "symbol": "DCTN1",
        "name": "dynactin subunit 1",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/dctn1"
      },
      {
        "slug": "dnajb2",
        "symbol": "DNAJB2",
        "name": "DnaJ heat shock protein family (Hsp40) member B2",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/dnajb2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/dync1h1"
      },
      {
        "slug": "emilin1",
        "symbol": "EMILIN1",
        "name": "elastin microfibril interfacer 1",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/emilin1"
      },
      {
        "slug": "fbxo38",
        "symbol": "FBXO38",
        "name": "F-box protein 38",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/fbxo38"
      },
      {
        "slug": "gars1",
        "symbol": "GARS1",
        "name": "glycyl-tRNA synthetase 1",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/gars1"
      },
      {
        "slug": "hspb8",
        "symbol": "HSPB8",
        "name": "heat shock protein family B (small) member 8",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/hspb8"
      },
      {
        "slug": "ighmbp2",
        "symbol": "IGHMBP2",
        "name": "immunoglobulin mu DNA binding protein 2",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/ighmbp2"
      },
      {
        "slug": "plekhg5",
        "symbol": "PLEKHG5",
        "name": "pleckstrin homology and RhoGEF domain containing G5",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/plekhg5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}