{
  "url": "https://dantelabs.com/tr/genes/timmdc1",
  "gene": {
    "slug": "timmdc1",
    "symbol": "TIMMDC1",
    "name": "translocase of inner mitochondrial membrane domain containing 1",
    "hgnc": "HGNC:1321",
    "summary": null,
    "location": "3q13.33",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ22597"
    ],
    "previousSymbols": [
      "C3orf1"
    ],
    "ensemblId": "ENSG00000113845",
    "entrezId": 51300,
    "omim": [
      "615534"
    ],
    "uniprot": [
      "Q9NPL8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 119498547,
      "end": 119525090,
      "strand": "+",
      "ensemblTranscript": "ENST00000494664.6",
      "refseqTranscript": "NM_016589.4",
      "ensemblProtein": "ENSP00000418803.1",
      "refseqProtein": "NP_057673.2",
      "exons": [
        {
          "start": 119498547,
          "end": 119498927
        },
        {
          "start": 119500695,
          "end": 119500860
        },
        {
          "start": 119503532,
          "end": 119503620
        },
        {
          "start": 119503954,
          "end": 119504021
        },
        {
          "start": 119513641,
          "end": 119513719
        },
        {
          "start": 119517205,
          "end": 119517315
        },
        {
          "start": 119523606,
          "end": 119525090
        }
      ],
      "cds": {
        "start": 119498734,
        "end": 119523756
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 119217379,
      "end": 119243937,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 119011819,
      "end": 120011818,
      "genes": [
        {
          "symbol": "IGSF11",
          "ensemblId": "ENSG00000144847",
          "biotype": "protein_coding",
          "start": 118900557,
          "end": 119146068,
          "strand": "-",
          "slug": "igsf11"
        },
        {
          "symbol": "TEX55",
          "ensemblId": "ENSG00000163424",
          "biotype": "protein_coding",
          "start": 119146151,
          "end": 119160042,
          "strand": "+",
          "slug": "tex55"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000251012",
          "biotype": "protein_coding",
          "start": 119147375,
          "end": 119187807,
          "strand": "+"
        },
        {
          "symbol": "UPK1B",
          "ensemblId": "ENSG00000114638",
          "biotype": "protein_coding",
          "start": 119173516,
          "end": 119205758,
          "strand": "+",
          "slug": "upk1b"
        },
        {
          "symbol": "B4GALT4",
          "ensemblId": "ENSG00000121578",
          "biotype": "protein_coding",
          "start": 119208851,
          "end": 119240952,
          "strand": "-",
          "slug": "b4galt4"
        },
        {
          "symbol": "ARHGAP31",
          "ensemblId": "ENSG00000031081",
          "biotype": "protein_coding",
          "start": 119294031,
          "end": 119420824,
          "strand": "+",
          "slug": "arhgap31"
        },
        {
          "symbol": "TMEM39A",
          "ensemblId": "ENSG00000176142",
          "biotype": "protein_coding",
          "start": 119428949,
          "end": 119468854,
          "strand": "-",
          "slug": "tmem39a"
        },
        {
          "symbol": "POGLUT1",
          "ensemblId": "ENSG00000163389",
          "biotype": "protein_coding",
          "start": 119468791,
          "end": 119494708,
          "strand": "+",
          "slug": "poglut1"
        },
        {
          "symbol": "CD80",
          "ensemblId": "ENSG00000121594",
          "biotype": "protein_coding",
          "start": 119523073,
          "end": 119580616,
          "strand": "-",
          "slug": "cd80"
        },
        {
          "symbol": "ADPRH",
          "ensemblId": "ENSG00000144843",
          "biotype": "protein_coding",
          "start": 119579268,
          "end": 119590165,
          "strand": "+",
          "slug": "adprh"
        },
        {
          "symbol": "PLA1A",
          "ensemblId": "ENSG00000144837",
          "biotype": "protein_coding",
          "start": 119597808,
          "end": 119629818,
          "strand": "+",
          "slug": "pla1a"
        },
        {
          "symbol": "POPDC2",
          "ensemblId": "ENSG00000121577",
          "biotype": "protein_coding",
          "start": 119636457,
          "end": 119665324,
          "strand": "-",
          "slug": "popdc2"
        },
        {
          "symbol": "COX17",
          "ensemblId": "ENSG00000138495",
          "biotype": "protein_coding",
          "start": 119654513,
          "end": 119677621,
          "strand": "-",
          "slug": "cox17"
        },
        {
          "symbol": "CFAP91",
          "ensemblId": "ENSG00000183833",
          "biotype": "protein_coding",
          "start": 119702990,
          "end": 119767102,
          "strand": "+",
          "slug": "cfap91"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285585",
          "biotype": "protein_coding",
          "start": 119703076,
          "end": 119807570,
          "strand": "+"
        },
        {
          "symbol": "NR1I2",
          "ensemblId": "ENSG00000144852",
          "biotype": "protein_coding",
          "start": 119780484,
          "end": 119818718,
          "strand": "+",
          "slug": "nr1i2"
        },
        {
          "symbol": "GSK3B",
          "ensemblId": "ENSG00000082701",
          "biotype": "protein_coding",
          "start": 119821321,
          "end": 120095712,
          "strand": "-",
          "slug": "gsk3b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primer Mitokondriyal Hastalık",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Mitokondriyal Solunum Zinciri Kompleks Eksikliği",
            "genes": 61,
            "inheritance": null,
            "description": "Nükleer ya da mitokondriyal genlerdeki varyantlardan kaynaklanan, I, II, III, IV veya V. komplekslerin izole eksiklikleridir. Beyin, kaslar, kalp, karaciğer ve enerji gereksinimi yüksek diğer organları etkileyebilir.",
            "management": "Bu durumu bilmek tanı arayışını sonlandırabilir ve etkilenen organların izlenmesine ve mitokondriler için toksik ilaçlardan kaçınılmasına yol gösterebilir.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-mitochondria-in-muscle-tissue",
        "name": "Abnormal mitochondria in muscle tissue",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-mitochondria-in-muscle-tissue"
      },
      {
        "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": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "optic-neuropathy",
        "name": "Damaged optic nerve",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-neuropathy"
      },
      {
        "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": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "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": "enlarged-cisterna-magna",
        "name": "Enlarged cisterna magna",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enlarged-cisterna-magna"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "fetal-distress",
        "name": "Fetal distress",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fetal-distress"
      },
      {
        "slug": "focal-t2-hyperintense-brainstem-lesion",
        "name": "Focal T2 hyperintense brainstem lesion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/focal-t2-hyperintense-brainstem-lesion"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "increased-circulating-pyruvate-concentration",
        "name": "Increased circulating pyruvate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "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": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "mitochondrial-myopathy",
        "name": "Mitochondrial myopathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mitochondrial-myopathy"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "paroxysmal-involuntary-eye-movements",
        "name": "Paroxysmal involuntary eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-involuntary-eye-movements"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "proximal-tubulopathy",
        "name": "Proximal tubulopathy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proximal-tubulopathy"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "progressive-neurologic-deterioration",
        "name": "Worsening neurological symptoms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration"
      }
    ],
    "related": [
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/acad9"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/atp5f1e"
      },
      {
        "slug": "bcs1l",
        "symbol": "BCS1L",
        "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/bcs1l"
      },
      {
        "slug": "coa6",
        "symbol": "COA6",
        "name": "cytochrome c oxidase assembly factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/coa6"
      },
      {
        "slug": "coa8",
        "symbol": "COA8",
        "name": "cytochrome c oxidase assembly factor 8",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/coa8"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/cox10"
      },
      {
        "slug": "cox15",
        "symbol": "COX15",
        "name": "cytochrome c oxidase assembly factor COX15",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/cox15"
      },
      {
        "slug": "cox16",
        "symbol": "COX16",
        "name": "cytochrome c oxidase assembly factor COX16",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/cox16"
      },
      {
        "slug": "cox20",
        "symbol": "COX20",
        "name": "cytochrome c oxidase assembly factor COX20",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/cox20"
      },
      {
        "slug": "cox6b1",
        "symbol": "COX6B1",
        "name": "cytochrome c oxidase subunit 6B1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/cox6b1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}