{
  "url": "https://dantelabs.com/no/genes/tmem163",
  "gene": {
    "slug": "tmem163",
    "symbol": "TMEM163",
    "name": "transmembrane protein 163",
    "hgnc": "HGNC:25380",
    "summary": null,
    "location": "2q21.3",
    "locusType": "gene with protein product",
    "aliases": [
      "DKFZP566N034",
      "SV31",
      "SLC30A11"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000152128",
    "entrezId": 81615,
    "omim": [
      "618978"
    ],
    "uniprot": [
      "Q8TC26"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 134455759,
      "end": 134719000,
      "strand": "-",
      "ensemblTranscript": "ENST00000281924.6",
      "refseqTranscript": "NM_030923.5",
      "ensemblProtein": "ENSP00000281924.6",
      "refseqProtein": "NP_112185.1",
      "exons": [
        {
          "start": 134455759,
          "end": 134456776
        },
        {
          "start": 134458032,
          "end": 134458173
        },
        {
          "start": 134466114,
          "end": 134466225
        },
        {
          "start": 134502901,
          "end": 134502997
        },
        {
          "start": 134550570,
          "end": 134550661
        },
        {
          "start": 134552048,
          "end": 134552091
        },
        {
          "start": 134713200,
          "end": 134713319
        },
        {
          "start": 134718734,
          "end": 134719000
        }
      ],
      "cds": {
        "start": 134456716,
        "end": 134718935
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 135213330,
      "end": 135476570,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 134087380,
      "end": 135087379,
      "genes": [
        {
          "symbol": "MGAT5",
          "ensemblId": "ENSG00000152127",
          "biotype": "protein_coding",
          "start": 134119892,
          "end": 134454621,
          "strand": "+",
          "slug": "mgat5"
        },
        {
          "symbol": "ACMSD",
          "ensemblId": "ENSG00000153086",
          "biotype": "protein_coding",
          "start": 134838312,
          "end": 134902910,
          "strand": "+",
          "slug": "acmsd"
        },
        {
          "symbol": "CCNT2",
          "ensemblId": "ENSG00000082258",
          "biotype": "protein_coding",
          "start": 134918235,
          "end": 134999446,
          "strand": "+",
          "slug": "ccnt2"
        },
        {
          "symbol": "MAP3K19",
          "ensemblId": "ENSG00000176601",
          "biotype": "protein_coding",
          "start": 134964485,
          "end": 135047468,
          "strand": "-",
          "slug": "map3k19"
        },
        {
          "symbol": "RAB3GAP1",
          "ensemblId": "ENSG00000115839",
          "biotype": "protein_coding",
          "start": 135052265,
          "end": 135176667,
          "strand": "+",
          "slug": "rab3gap1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies",
        "name": "Pelizaeus-Merzbacher-sykdom og hypomyeliniserende leukodystrofier",
        "diseases": [
          {
            "mondoId": "MONDO:0859378",
            "name": "Hypomyeliniserende leukodystrofi 25 (TMEM163)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "En sjelden arvelig form av hypomyeliniserende leukodystrofi, der myelinen i hjernen ikke dannes normalt, noe som gir forsinket utvikling og bevegelsesproblemer.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies"
      },
      {
        "slug": "leukodystrophy",
        "name": "Andre arvelige leukodystrofier",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leukodystrofi (andre og uspesifiserte typer)",
            "genes": 80,
            "inheritance": null,
            "description": "Arvelige tilstander som skader eller hindrer normal dannelse av myelin, den hvite substansen i hjernen og ryggmargen. De ulike typene arves autosomalt recessivt, autosomalt dominant eller X-bundet, avhengig av genet som er involvert.",
            "management": "Kjennskap til den spesifikke genetiske årsaken kan avslutte en diagnostisk leting, veilede støttende behandling og oppfølging, vise om en spesifikk behandling finnes, og gjøre det mulig å teste slektninger.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/leukodystrophy"
      }
    ],
    "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": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "blue-sclerae",
        "name": "Blue outer white part of eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blue-sclerae"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "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": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "diminished-ability-to-concentrate",
        "name": "Poor concentration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diminished-ability-to-concentrate"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/abcd1"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/adar"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aimp2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aldh3a2"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/arsa"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "name": "aspartoacylase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aspa"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp11a"
      },
      {
        "slug": "clcn2",
        "symbol": "CLCN2",
        "name": "chloride voltage-gated channel 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/clcn2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}