{
  "url": "https://dantelabs.com/lt/genes/aco2",
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        {
          "symbol": "SREBF2",
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        {
          "symbol": "SHISA8",
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        {
          "symbol": "TNFRSF13C",
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          "biotype": "protein_coding",
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        {
          "symbol": "CENPM",
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        {
          "symbol": "SMIM45",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "SEPTIN3",
          "ensemblId": "ENSG00000100167",
          "biotype": "protein_coding",
          "start": 41969443,
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          "strand": "+",
          "slug": "septin3"
        },
        {
          "symbol": "WBP2NL",
          "ensemblId": "ENSG00000183066",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "wbp2nl"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-optic-neuropathy",
        "name": "Paveldima regos nervo neuropatija",
        "diseases": [
          {
            "mondoId": "MONDO:0043878",
            "name": "Paveldimas regos nervo atrofija",
            "genes": 13,
            "inheritance": null,
            "description": "Paveldimas regos nervo skaidulų netekimas, dažniausiai autosominė dominuojanti regos nervo atrofija, kurią sukelia OPA1 pakitimai, įskaitant retesnes formas, kurias sukelia OPA3, DNM1L, SSBP1 ir kiti genai.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/hereditary-optic-neuropathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "retinal-dystrophy",
        "name": "Breakdown of light-sensitive cells in back of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-dystrophy"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "decreased-body-weight",
        "name": "Decreased body weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-body-weight"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "demyelinating-peripheral-neuropathy",
        "name": "Demyelinating peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "athetosis",
        "name": "Involuntary writhing movements in fingers, hands, toes, and feet",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/athetosis"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "paracentral-scotoma",
        "name": "Paracentral scotoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/paracentral-scotoma"
      },
      {
        "slug": "progressive-microcephaly",
        "name": "Progressively abnormally small cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-microcephaly"
      },
      {
        "slug": "red-green-dyschromatopsia",
        "name": "Red green color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/red-green-dyschromatopsia"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/afg3l2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp1a3"
      },
      {
        "slug": "dnm1l",
        "symbol": "DNM1L",
        "name": "dynamin 1L",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/dnm1l"
      },
      {
        "slug": "mt-nd1",
        "symbol": "MT-ND1",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/mt-nd1"
      },
      {
        "slug": "mt-nd4",
        "symbol": "MT-ND4",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/mt-nd4"
      },
      {
        "slug": "mt-nd5",
        "symbol": "MT-ND5",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/mt-nd5"
      },
      {
        "slug": "mt-nd6",
        "symbol": "MT-ND6",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/mt-nd6"
      },
      {
        "slug": "opa1",
        "symbol": "OPA1",
        "name": "OPA1 mitochondrial dynamin like GTPase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/opa1"
      },
      {
        "slug": "opa3",
        "symbol": "OPA3",
        "name": "outer mitochondrial membrane lipid metabolism regulator OPA3",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/opa3"
      },
      {
        "slug": "rtn4ip1",
        "symbol": "RTN4IP1",
        "name": "reticulon 4 interacting protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/rtn4ip1"
      },
      {
        "slug": "ssbp1",
        "symbol": "SSBP1",
        "name": "single stranded DNA binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/ssbp1"
      },
      {
        "slug": "tmem126a",
        "symbol": "TMEM126A",
        "name": "transmembrane protein 126A",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/tmem126a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}