{
  "url": "https://dantelabs.com/es/genes/arl6ip1",
  "gene": {
    "slug": "arl6ip1",
    "symbol": "ARL6IP1",
    "name": "ARL6 interacting reticulophagy regulator 1",
    "hgnc": "HGNC:697",
    "summary": null,
    "location": "16p12.3",
    "locusType": "gene with protein product",
    "aliases": [
      "AIP1",
      "ARMER",
      "KIAA0069",
      "SPG61"
    ],
    "previousSymbols": [
      "ARL6IP"
    ],
    "ensemblId": "ENSG00000170540",
    "entrezId": 23204,
    "omim": [
      "607669"
    ],
    "uniprot": [
      "Q15041"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 18791669,
      "end": 18801549,
      "strand": "-",
      "ensemblTranscript": "ENST00000304414.12",
      "refseqTranscript": "NM_015161.3",
      "ensemblProtein": "ENSP00000306788.7",
      "refseqProtein": "NP_055976.1",
      "exons": [
        {
          "start": 18791669,
          "end": 18793370
        },
        {
          "start": 18794599,
          "end": 18794683
        },
        {
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        {
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        }
      ],
      "cds": {
        "start": 18793252,
        "end": 18801466
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 18802991,
      "end": 18813000,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 18296609,
      "end": 19296608,
      "genes": [
        {
          "symbol": "NPIPA8",
          "ensemblId": "ENSG00000214940",
          "biotype": "protein_coding",
          "start": 18317919,
          "end": 18336736,
          "strand": "-",
          "slug": "npipa8"
        },
        {
          "symbol": "NPIPA9",
          "ensemblId": "ENSG00000233024",
          "biotype": "protein_coding",
          "start": 18358086,
          "end": 18379331,
          "strand": "-",
          "slug": "npipa9"
        },
        {
          "symbol": "NOMO2",
          "ensemblId": "ENSG00000185164",
          "biotype": "protein_coding",
          "start": 18417325,
          "end": 18562211,
          "strand": "-",
          "slug": "nomo2"
        },
        {
          "symbol": "RPS15A",
          "ensemblId": "ENSG00000134419",
          "biotype": "protein_coding",
          "start": 18775365,
          "end": 18790420,
          "strand": "-",
          "slug": "rps15a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000260342",
          "biotype": "protein_coding",
          "start": 18788063,
          "end": 18801519,
          "strand": "-"
        },
        {
          "symbol": "SMG1",
          "ensemblId": "ENSG00000157106",
          "biotype": "protein_coding",
          "start": 18804860,
          "end": 18926459,
          "strand": "-",
          "slug": "smg1"
        },
        {
          "symbol": "TMC7",
          "ensemblId": "ENSG00000170537",
          "biotype": "protein_coding",
          "start": 18983928,
          "end": 19063947,
          "strand": "+",
          "slug": "tmc7"
        },
        {
          "symbol": "COQ7",
          "ensemblId": "ENSG00000167186",
          "biotype": "protein_coding",
          "start": 19067564,
          "end": 19082190,
          "strand": "+",
          "slug": "coq7"
        },
        {
          "symbol": "ITPRIPL2",
          "ensemblId": "ENSG00000205730",
          "biotype": "protein_coding",
          "start": 19113932,
          "end": 19121629,
          "strand": "+",
          "slug": "itpripl2"
        },
        {
          "symbol": "SYT17",
          "ensemblId": "ENSG00000103528",
          "biotype": "protein_coding",
          "start": 19167971,
          "end": 19268334,
          "strand": "+",
          "slug": "syt17"
        },
        {
          "symbol": "CLEC19A",
          "ensemblId": "ENSG00000261210",
          "biotype": "protein_coding",
          "start": 19285731,
          "end": 19322145,
          "strand": "+",
          "slug": "clec19a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Paraplejia espástica hereditaria",
        "diseases": [
          {
            "mondoId": "MONDO:0019064",
            "name": "Paraplejía espástica hereditaria (todos los tipos)",
            "genes": 66,
            "inheritance": null,
            "description": "Término general que engloba todas las paraplejías espásticas hereditarias, incluidas SPG4 (SPAST), la forma dominante más frecuente, y SPG5A, SPG6, SPG10, SPG18, SPG30 y SPG31.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/es/conditions/hereditary-spastic-paraplegia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-achilles-tendon-morphology",
        "name": "Abnormality of the Achilles tendon",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-achilles-tendon-morphology"
      },
      {
        "slug": "abnormality-of-the-knee",
        "name": "Abnormality of the knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-knee"
      },
      {
        "slug": "absent-achilles-reflex",
        "name": "Absent ankle reflexes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-achilles-reflex"
      },
      {
        "slug": "hyperactive-patellar-reflex",
        "name": "Brisk knee jerk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperactive-patellar-reflex"
      },
      {
        "slug": "sensory-neuropathy",
        "name": "Damage to nerves that sense feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensory-neuropathy"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "motor-polyneuropathy",
        "name": "Motor polyneuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-polyneuropathy"
      },
      {
        "slug": "polyneuropathy",
        "name": "Peripheral nerve disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyneuropathy"
      },
      {
        "slug": "scissor-gait",
        "name": "Scissor gait",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/scissor-gait"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      }
    ],
    "related": [
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/abcd1"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/abhd16a"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/aldh18a1"
      },
      {
        "slug": "amfr",
        "symbol": "AMFR",
        "name": "autocrine motility factor receptor",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/amfr"
      },
      {
        "slug": "ap4b1",
        "symbol": "AP4B1",
        "name": "adaptor related protein complex 4 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/ap4b1"
      },
      {
        "slug": "ap4e1",
        "symbol": "AP4E1",
        "name": "adaptor related protein complex 4 subunit epsilon 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/ap4e1"
      },
      {
        "slug": "ap4m1",
        "symbol": "AP4M1",
        "name": "adaptor related protein complex 4 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/ap4m1"
      },
      {
        "slug": "ap4s1",
        "symbol": "AP4S1",
        "name": "adaptor related protein complex 4 subunit sigma 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/ap4s1"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/ap5z1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/atl1"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "name": "ATPase cation transporting 13A2",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/atp13a2"
      },
      {
        "slug": "b4galnt1",
        "symbol": "B4GALNT1",
        "name": "beta-1,4-N-acetyl-galactosaminyltransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/b4galnt1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}