{
  "url": "https://dantelabs.com/nl/genes/lipt2",
  "gene": {
    "slug": "lipt2",
    "symbol": "LIPT2",
    "name": "lipoyl(octanoyl) transferase 2",
    "hgnc": "HGNC:37216",
    "summary": null,
    "location": "11q13.4",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000175536",
    "entrezId": 387787,
    "omim": [
      "617659"
    ],
    "uniprot": [
      "A6NK58"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 74490519,
      "end": 74493724,
      "strand": "-",
      "ensemblTranscript": "ENST00000310109.5",
      "refseqTranscript": "NM_001144869.3",
      "ensemblProtein": "ENSP00000309463.4",
      "refseqProtein": "NP_001138341.1",
      "exons": [
        {
          "start": 74490519,
          "end": 74492364
        },
        {
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          "end": 74493724
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      ],
      "cds": {
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        "end": 74493703
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 74202757,
      "end": 74204778,
      "strand": "-"
    },
    "neighbourhood": {
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      "end": 74992121,
      "genes": [
        {
          "symbol": "UCP3",
          "ensemblId": "ENSG00000175564",
          "biotype": "protein_coding",
          "start": 74000277,
          "end": 74009241,
          "strand": "-",
          "slug": "ucp3"
        },
        {
          "symbol": "C2CD3",
          "ensemblId": "ENSG00000168014",
          "biotype": "protein_coding",
          "start": 74012718,
          "end": 74171210,
          "strand": "-",
          "slug": "c2cd3"
        },
        {
          "symbol": "PPME1",
          "ensemblId": "ENSG00000214517",
          "biotype": "protein_coding",
          "start": 74171083,
          "end": 74254714,
          "strand": "+",
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        },
        {
          "symbol": "P4HA3",
          "ensemblId": "ENSG00000149380",
          "biotype": "protein_coding",
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          "end": 74311685,
          "strand": "-",
          "slug": "p4ha3"
        },
        {
          "symbol": "PGM2L1",
          "ensemblId": "ENSG00000165434",
          "biotype": "protein_coding",
          "start": 74330315,
          "end": 74398473,
          "strand": "-",
          "slug": "pgm2l1"
        },
        {
          "symbol": "KCNE3",
          "ensemblId": "ENSG00000175538",
          "biotype": "protein_coding",
          "start": 74454841,
          "end": 74467743,
          "strand": "-",
          "slug": "kcne3"
        },
        {
          "symbol": "POLD3",
          "ensemblId": "ENSG00000077514",
          "biotype": "protein_coding",
          "start": 74493851,
          "end": 74669117,
          "strand": "+",
          "slug": "pold3"
        },
        {
          "symbol": "CHRDL2",
          "ensemblId": "ENSG00000054938",
          "biotype": "protein_coding",
          "start": 74696429,
          "end": 74731625,
          "strand": "-",
          "slug": "chrdl2"
        },
        {
          "symbol": "RNF169",
          "ensemblId": "ENSG00000166439",
          "biotype": "protein_coding",
          "start": 74748832,
          "end": 74842413,
          "strand": "+",
          "slug": "rnf169"
        },
        {
          "symbol": "XRRA1",
          "ensemblId": "ENSG00000166435",
          "biotype": "protein_coding",
          "start": 74807739,
          "end": 74949200,
          "strand": "-",
          "slug": "xrra1"
        },
        {
          "symbol": "SPCS2",
          "ensemblId": "ENSG00000118363",
          "biotype": "protein_coding",
          "start": 74949259,
          "end": 74981633,
          "strand": "+",
          "slug": "spcs2"
        },
        {
          "symbol": "NEU3",
          "ensemblId": "ENSG00000162139",
          "biotype": "protein_coding",
          "start": 74984361,
          "end": 75020679,
          "strand": "+",
          "slug": "neu3"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "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": "absent-posterior-alpha-rhythm",
        "name": "Absent posterior alpha rhythm",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-posterior-alpha-rhythm"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "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": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "diminished-alpha-ketoglutarate-dehydrogenase-activity-in-cultured-fibroblasts",
        "name": "Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/diminished-alpha-ketoglutarate-dehydrogenase-activity-in-cultured-fibroblasts"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "hyperglycinemia",
        "name": "Elevated blood glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperglycinemia"
      },
      {
        "slug": "elevated-brain-lactate-level-by-mrs",
        "name": "Elevated brain lactate level by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-brain-lactate-level-by-mrs"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "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-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hyperalaninemia",
        "name": "Increased blood alanine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperalaninemia"
      },
      {
        "slug": "increased-circulating-pyruvate-concentration",
        "name": "Increased circulating pyruvate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "lateral-ventricle-dilatation",
        "name": "Lateral ventricle dilatation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "periventricular-cysts",
        "name": "Periventricular cysts",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/periventricular-cysts"
      },
      {
        "slug": "profound-global-developmental-delay",
        "name": "Profound global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/profound-global-developmental-delay"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "simplified-gyral-pattern",
        "name": "Simplified gyral pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/simplified-gyral-pattern"
      },
      {
        "slug": "spastic-tetraparesis",
        "name": "Spastic tetraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-tetraparesis"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}