{
  "url": "https://dantelabs.com/el/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": "Νόσος Pelizaeus-Merzbacher και υπομυελινωτικές λευκοδystροφίες",
        "diseases": [
          {
            "mondoId": "MONDO:0859378",
            "name": "Υπομυελινωτική λευκοδystροφία 25 (TMEM163)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Σπάνια κληρονομική μορφή υπομυελινωτικής λευκοδystροφίας, κατά την οποία η μυελίνη του εγκεφάλου δεν σχηματίζεται φυσιολογικά, προκαλώντας καθυστερημένη ανάπτυξη και κινητικά προβλήματα.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies"
      },
      {
        "slug": "leukodystrophy",
        "name": "Άλλες κληρονομικές λευκοδystrοφίες",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Λευκοδυστροφία (άλλοι και μη προσδιορισμένοι τύποι)",
            "genes": 80,
            "inheritance": null,
            "description": "Κληρονομικές παθήσεις που βλάπτουν ή εμποδίζουν τον φυσιολογικό σχηματισμό της μυελίνης, της λευκής ουσίας του εγκεφάλου και του νωτιαίου μυελού. Οι διαφορετικοί τύποι ακολουθούν αυτοσωμική υπολειπόμενη, αυτοσωμική επικρατή ή X-συνδεδεμένη κληρονομικότητα, ανάλογα με το εμπλεκόμενο γονίδιο.",
            "management": "Η γνώση της συγκεκριμένης γενετικής αιτίας μπορεί να τερματίσει τη διαγνωστική αναζήτηση, να καθοδηγήσει τη υποστηρικτική φροντίδα και την παρακολούθηση, να δείξει αν υπάρχει συγκεκριμένη θεραπεία και να επιτρέψει τον έλεγχο των συγγενών.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/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/el/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/abcd1"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/adar"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aimp2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aldh3a2"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/arsa"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "name": "aspartoacylase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aspa"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atp11a"
      },
      {
        "slug": "clcn2",
        "symbol": "CLCN2",
        "name": "chloride voltage-gated channel 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/clcn2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}