{
  "url": "https://dantelabs.com/no/genes/flvcr2",
  "gene": {
    "slug": "flvcr2",
    "symbol": "FLVCR2",
    "name": "FLVCR choline and putative heme transporter 2",
    "hgnc": "HGNC:20105",
    "summary": null,
    "location": "14q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ20371",
      "MFSD7C",
      "SLC49A2",
      "CCT"
    ],
    "previousSymbols": [
      "C14orf58"
    ],
    "ensemblId": "ENSG00000119686",
    "entrezId": 55640,
    "omim": [
      "610865"
    ],
    "uniprot": [
      "Q9UPI3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 75578620,
      "end": 75648167,
      "strand": "+",
      "ensemblTranscript": "ENST00000238667.9",
      "refseqTranscript": "NM_017791.3",
      "ensemblProtein": "ENSP00000238667.4",
      "refseqProtein": "NP_060261.2",
      "exons": [
        {
          "start": 75578620,
          "end": 75579641
        },
        {
          "start": 75622079,
          "end": 75622220
        },
        {
          "start": 75624612,
          "end": 75624752
        },
        {
          "start": 75633629,
          "end": 75633696
        },
        {
          "start": 75634910,
          "end": 75635013
        },
        {
          "start": 75639352,
          "end": 75639462
        },
        {
          "start": 75640955,
          "end": 75641060
        },
        {
          "start": 75641182,
          "end": 75641293
        },
        {
          "start": 75641843,
          "end": 75641898
        },
        {
          "start": 75646401,
          "end": 75648167
        }
      ],
      "cds": {
        "start": 75578973,
        "end": 75646472
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 76044960,
      "end": 76129557,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 75113394,
      "end": 76113393,
      "genes": [
        {
          "symbol": "ZC2HC1C",
          "ensemblId": "ENSG00000119703",
          "biotype": "protein_coding",
          "start": 75064109,
          "end": 75119502,
          "strand": "+",
          "slug": "zc2hc1c"
        },
        {
          "symbol": "NEK9",
          "ensemblId": "ENSG00000119638",
          "biotype": "protein_coding",
          "start": 75079353,
          "end": 75127344,
          "strand": "-",
          "slug": "nek9"
        },
        {
          "symbol": "TMED10",
          "ensemblId": "ENSG00000170348",
          "biotype": "protein_coding",
          "start": 75131106,
          "end": 75176652,
          "strand": "-",
          "slug": "tmed10"
        },
        {
          "symbol": "FOS",
          "ensemblId": "ENSG00000170345",
          "biotype": "protein_coding",
          "start": 75278821,
          "end": 75283190,
          "strand": "+",
          "slug": "fos"
        },
        {
          "symbol": "JDP2",
          "ensemblId": "ENSG00000140044",
          "biotype": "protein_coding",
          "start": 75427716,
          "end": 75474111,
          "strand": "+",
          "slug": "jdp2"
        },
        {
          "symbol": "BATF",
          "ensemblId": "ENSG00000156127",
          "biotype": "protein_coding",
          "start": 75522455,
          "end": 75546993,
          "strand": "+",
          "slug": "batf"
        },
        {
          "symbol": "TTLL5",
          "ensemblId": "ENSG00000119685",
          "biotype": "protein_coding",
          "start": 75633625,
          "end": 75955084,
          "strand": "+",
          "slug": "ttll5"
        },
        {
          "symbol": "ERG28",
          "ensemblId": "ENSG00000133935",
          "biotype": "protein_coding",
          "start": 75648079,
          "end": 75661570,
          "strand": "-",
          "slug": "erg28"
        },
        {
          "symbol": "IFT43",
          "ensemblId": "ENSG00000119650",
          "biotype": "protein_coding",
          "start": 75902136,
          "end": 76084611,
          "strand": "+",
          "slug": "ift43"
        },
        {
          "symbol": "TGFB3",
          "ensemblId": "ENSG00000119699",
          "biotype": "protein_coding",
          "start": 75958066,
          "end": 75983026,
          "strand": "-",
          "slug": "tgfb3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "fowler-syndrome",
        "name": "Fowler-syndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0009168",
            "name": "Fowler-syndrom",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Forårsaket av endringer i begge kopiene av FLVCR2, en transportør som trengs for normal utvikling av blodkar i hjernen. Kalles også proliferativ vaskulopati og hydranencefali-hydrocefalus-syndrom.",
            "management": "Diagnosen gir grunnlag for informerte beslutninger og veiledning rundt svangerskap. Bærertesting av slektninger og testing i fremtidige svangerskap, herunder tidlig prenatal testing eller preimplantasjonsdiagnostikk, er mulig når begge familiens varianter er kjent.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/fowler-syndrome"
      }
    ],
    "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"
        ],
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "akinesia",
        "name": "Akinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/akinesia"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cystic-hygroma",
        "name": "Cystic hygroma",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cystic-hygroma"
      },
      {
        "slug": "dandy-walker-malformation",
        "name": "Dandy-Walker malformation",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "hydranencephaly",
        "name": "Hydranencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydranencephaly"
      },
      {
        "slug": "joint-contracture",
        "name": "Joint contracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-contracture"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "hypoplasia-of-the-musculature",
        "name": "Poorly developed skeletal musculature",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-musculature"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "pterygium",
        "name": "Pterygium",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pterygium"
      },
      {
        "slug": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "talipes",
        "name": "Talipes",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/talipes"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}