{
  "url": "https://dantelabs.com/no/genes/tor1aip1",
  "gene": {
    "slug": "tor1aip1",
    "symbol": "TOR1AIP1",
    "name": "torsin 1A interacting protein 1",
    "hgnc": "HGNC:29456",
    "summary": null,
    "location": "1q25.2",
    "locusType": "gene with protein product",
    "aliases": [
      "LAP1B",
      "FLJ13142",
      "LAP1",
      "LAP1C"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000143337",
    "entrezId": 26092,
    "omim": [
      "614512"
    ],
    "uniprot": [
      "Q5JTV8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 179882285,
      "end": 179920076,
      "strand": "+",
      "ensemblTranscript": "ENST00000606911.7",
      "refseqTranscript": "NM_015602.4",
      "ensemblProtein": "ENSP00000476687.1",
      "refseqProtein": "NP_056417.2",
      "exons": [
        {
          "start": 179882285,
          "end": 179882977
        },
        {
          "start": 179884692,
          "end": 179884769
        },
        {
          "start": 179889313,
          "end": 179889369
        },
        {
          "start": 179900126,
          "end": 179900167
        },
        {
          "start": 179901302,
          "end": 179901388
        },
        {
          "start": 179903966,
          "end": 179904022
        },
        {
          "start": 179907823,
          "end": 179907864
        },
        {
          "start": 179908605,
          "end": 179908673
        },
        {
          "start": 179913998,
          "end": 179914054
        },
        {
          "start": 179917452,
          "end": 179920076
        }
      ],
      "cds": {
        "start": 179882503,
        "end": 179918239
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 179851177,
      "end": 179894135,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 179401181,
      "end": 180401180,
      "genes": [
        {
          "symbol": "AXDND1",
          "ensemblId": "ENSG00000162779",
          "biotype": "protein_coding",
          "start": 179365720,
          "end": 179554735,
          "strand": "+",
          "slug": "axdnd1"
        },
        {
          "symbol": "NPHS2",
          "ensemblId": "ENSG00000116218",
          "biotype": "protein_coding",
          "start": 179550494,
          "end": 179575954,
          "strand": "-",
          "slug": "nphs2"
        },
        {
          "symbol": "TDRD5",
          "ensemblId": "ENSG00000162782",
          "biotype": "protein_coding",
          "start": 179591613,
          "end": 179691272,
          "strand": "+",
          "slug": "tdrd5"
        },
        {
          "symbol": "FAM163A",
          "ensemblId": "ENSG00000143340",
          "biotype": "protein_coding",
          "start": 179742877,
          "end": 179817055,
          "strand": "+",
          "slug": "fam163a"
        },
        {
          "symbol": "TOR1AIP2",
          "ensemblId": "ENSG00000169905",
          "biotype": "protein_coding",
          "start": 179839967,
          "end": 179883034,
          "strand": "-",
          "slug": "tor1aip2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000293564",
          "biotype": "protein_coding",
          "start": 179882316,
          "end": 179882393,
          "strand": "+"
        },
        {
          "symbol": "CEP350",
          "ensemblId": "ENSG00000135837",
          "biotype": "protein_coding",
          "start": 179954674,
          "end": 180114880,
          "strand": "+",
          "slug": "cep350"
        },
        {
          "symbol": "QSOX1",
          "ensemblId": "ENSG00000116260",
          "biotype": "protein_coding",
          "start": 180154806,
          "end": 180204030,
          "strand": "+",
          "slug": "qsox1"
        },
        {
          "symbol": "LHX4",
          "ensemblId": "ENSG00000121454",
          "biotype": "protein_coding",
          "start": 180228787,
          "end": 180278984,
          "strand": "+",
          "slug": "lhx4"
        },
        {
          "symbol": "ACBD6",
          "ensemblId": "ENSG00000230124",
          "biotype": "protein_coding",
          "start": 180269653,
          "end": 180502954,
          "strand": "-",
          "slug": "acbd6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "limb-girdle-muscular-dystrophy",
        "name": "Gördelmuskeldystrofi",
        "diseases": [
          {
            "mondoId": "MONDO:0016971",
            "name": "Gördelmuskeldystrofi",
            "genes": 33,
            "inheritance": null,
            "description": "Gördelmuskeldystrofi defineres som en samling av mange undertyper med ulike arvemønstre (der også grunnlaget for diagnose varierer). Bærere av varianter knyttet til sykdommen bør søke veiledning hos en spesialist i muskel- og skjelettsykdommer for en endelig diagnose.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/limb-girdle-muscular-dystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ankle-flexion-contracture",
        "name": "Ankle flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ankle-flexion-contracture"
      },
      {
        "slug": "centrally-nucleated-skeletal-muscle-fibers",
        "name": "Centrally nucleated skeletal muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers"
      },
      {
        "slug": "contracture-of-the-distal-interphalangeal-joint-of-the-fingers",
        "name": "Contracture of the distal interphalangeal joint of the fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/contracture-of-the-distal-interphalangeal-joint-of-the-fingers"
      },
      {
        "slug": "decreased-forced-expiratory-flow-25-75",
        "name": "Decreased forced expiratory flow 25-75%",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-forced-expiratory-flow-25-75"
      },
      {
        "slug": "difficulty-climbing-stairs",
        "name": "Difficulty walking up stairs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/difficulty-climbing-stairs"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "premature-ventricular-contraction",
        "name": "Extra heart beat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-ventricular-contraction"
      },
      {
        "slug": "increased-endomysial-connective-tissue",
        "name": "Increased endomysial connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-endomysial-connective-tissue"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "interosseus-muscle-atrophy",
        "name": "Interosseus muscle atrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/interosseus-muscle-atrophy"
      },
      {
        "slug": "joint-contracture",
        "name": "Joint contracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-contracture"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "muscular-dystrophy",
        "name": "Muscular dystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscular-dystrophy"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "spinal-rigidity",
        "name": "Reduced spine movement",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spinal-rigidity"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ano5"
      },
      {
        "slug": "capn3",
        "symbol": "CAPN3",
        "name": "calpain 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/capn3"
      },
      {
        "slug": "col6a1",
        "symbol": "COL6A1",
        "name": "collagen type VI alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/col6a1"
      },
      {
        "slug": "col6a2",
        "symbol": "COL6A2",
        "name": "collagen type VI alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/col6a2"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/col6a3"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "name": "dystroglycan 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dag1"
      },
      {
        "slug": "dnajb6",
        "symbol": "DNAJB6",
        "name": "DnaJ heat shock protein family (Hsp40) member B6",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dnajb6"
      },
      {
        "slug": "dysf",
        "symbol": "DYSF",
        "name": "dysferlin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dysf"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "name": "fukutin related protein",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "name": "fukutin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/fktn"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "name": "GDP-mannose pyrophosphorylase B",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gmppb"
      },
      {
        "slug": "hmgcr",
        "symbol": "HMGCR",
        "name": "3-hydroxy-3-methylglutaryl-CoA reductase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/hmgcr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}