{
  "url": "https://dantelabs.com/sv/genes/rab11a",
  "gene": {
    "slug": "rab11a",
    "symbol": "RAB11A",
    "name": "RAB11A, member RAS oncogene family",
    "hgnc": "HGNC:9760",
    "summary": null,
    "location": "15q22.31",
    "locusType": "gene with protein product",
    "aliases": [
      "YL8"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000103769",
    "entrezId": 8766,
    "omim": [
      "605570"
    ],
    "uniprot": [
      "P62491"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 65869491,
      "end": 65891989,
      "strand": "+",
      "ensemblTranscript": "ENST00000261890.7",
      "refseqTranscript": "NM_004663.5",
      "ensemblProtein": "ENSP00000261890.2",
      "refseqProtein": "NP_004654.1",
      "exons": [
        {
          "start": 65869491,
          "end": 65869625
        },
        {
          "start": 65877332,
          "end": 65877527
        },
        {
          "start": 65877762,
          "end": 65877955
        },
        {
          "start": 65879671,
          "end": 65879751
        },
        {
          "start": 65887701,
          "end": 65891989
        }
      ],
      "cds": {
        "start": 65869586,
        "end": 65887840
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 66018392,
      "end": 66184329,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 65380740,
      "end": 66380739,
      "genes": [
        {
          "symbol": "IGDCC4",
          "ensemblId": "ENSG00000103742",
          "biotype": "protein_coding",
          "start": 65381479,
          "end": 65423083,
          "strand": "-",
          "slug": "igdcc4"
        },
        {
          "symbol": "DPP8",
          "ensemblId": "ENSG00000074603",
          "biotype": "protein_coding",
          "start": 65442463,
          "end": 65517757,
          "strand": "-",
          "slug": "dpp8"
        },
        {
          "symbol": "HACD3",
          "ensemblId": "ENSG00000074696",
          "biotype": "protein_coding",
          "start": 65530418,
          "end": 65578353,
          "strand": "+",
          "slug": "hacd3"
        },
        {
          "symbol": "INTS14",
          "ensemblId": "ENSG00000138614",
          "biotype": "protein_coding",
          "start": 65578753,
          "end": 65611615,
          "strand": "-",
          "slug": "ints14"
        },
        {
          "symbol": "SLC24A1",
          "ensemblId": "ENSG00000074621",
          "biotype": "protein_coding",
          "start": 65611366,
          "end": 65662034,
          "strand": "+",
          "slug": "slc24a1"
        },
        {
          "symbol": "DENND4A",
          "ensemblId": "ENSG00000174485",
          "biotype": "protein_coding",
          "start": 65658046,
          "end": 65792307,
          "strand": "-",
          "slug": "dennd4a"
        },
        {
          "symbol": "MEGF11",
          "ensemblId": "ENSG00000157890",
          "biotype": "protein_coding",
          "start": 65895079,
          "end": 66253811,
          "strand": "-",
          "slug": "megf11"
        },
        {
          "symbol": "DIS3L",
          "ensemblId": "ENSG00000166938",
          "biotype": "protein_coding",
          "start": 66293217,
          "end": 66333906,
          "strand": "+",
          "slug": "dis3l"
        },
        {
          "symbol": "TIPIN",
          "ensemblId": "ENSG00000075131",
          "biotype": "protein_coding",
          "start": 66336191,
          "end": 66386756,
          "strand": "-",
          "slug": "tipin"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "complex-neurodevelopmental-disorder-motor-features",
        "name": "Komplex neuroutvecklingsstörning med motoriska drag",
        "diseases": [
          {
            "mondoId": "MONDO:0100516",
            "name": "Komplex neuroutvecklingsstörning med motoriska drag",
            "genes": 9,
            "inheritance": null,
            "description": "Orsakas av förändringar i en av flera gener som är involverade i hjärnans utveckling och nervsignalering. Förändringar i en kopia av KMT2B eller EMC1, ofta nya hos barnet, ger dominanta former; förändringar i båda kopiorna av ELP2, EMC1 eller PSMF1 ger recessiva former.",
            "management": "Vården anpassas efter genen och symtomen, med neurologi, sjukgymnastik och stöd för utvecklingen. Djup hjärnstimulering hjälper ofta vid KMT2B-relaterad dystoni. Genetisk rådgivning vägleder testning av familjen: testning av föräldrar vid dominanta former och bärartestning vid recessiva former.",
            "evidence": {
              "gencc": [],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/complex-neurodevelopmental-disorder-motor-features"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [],
    "related": [
      {
        "slug": "add3",
        "symbol": "ADD3",
        "name": "adducin 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/add3"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cacna1a"
      },
      {
        "slug": "cacna1b",
        "symbol": "CACNA1B",
        "name": "calcium voltage-gated channel subunit alpha1 B",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cacna1b"
      },
      {
        "slug": "elp2",
        "symbol": "ELP2",
        "name": "elongator acetyltransferase complex subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/elp2"
      },
      {
        "slug": "emc1",
        "symbol": "EMC1",
        "name": "ER membrane protein complex subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/emc1"
      },
      {
        "slug": "kmt2b",
        "symbol": "KMT2B",
        "name": "lysine methyltransferase 2B",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/kmt2b"
      },
      {
        "slug": "psmf1",
        "symbol": "PSMF1",
        "name": "proteasome inhibitor subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/psmf1"
      },
      {
        "slug": "tubb2a",
        "symbol": "TUBB2A",
        "name": "tubulin beta 2A class IIa",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/tubb2a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}