{
  "url": "https://dantelabs.com/cs/genes/c9orf72",
  "gene": {
    "slug": "c9orf72",
    "symbol": "C9orf72",
    "name": "C9orf72-SMCR8 complex subunit",
    "hgnc": "HGNC:28337",
    "summary": null,
    "location": "9p21.2",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC23980",
      "DENNL72",
      "DENND9"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000147894",
    "entrezId": 203228,
    "omim": [
      "614260"
    ],
    "uniprot": [
      "Q96LT7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 27546546,
      "end": 27573481,
      "strand": "-",
      "ensemblTranscript": "ENST00000380003.8",
      "refseqTranscript": "NM_018325.5",
      "ensemblProtein": "ENSP00000369339.3",
      "refseqProtein": "NP_060795.1",
      "exons": [
        {
          "start": 27546546,
          "end": 27548422
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        {
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        },
        {
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        {
          "start": 27556561,
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        {
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          "end": 27558607
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        {
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        {
          "start": 27561585,
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        },
        {
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        {
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        },
        {
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        },
        {
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        }
      ],
      "cds": {
        "start": 27548236,
        "end": 27567120
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 27546544,
      "end": 27573864,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 27060014,
      "end": 28060013,
      "genes": [
        {
          "symbol": "IFT74",
          "ensemblId": "ENSG00000096872",
          "biotype": "protein_coding",
          "start": 26947039,
          "end": 27066198,
          "strand": "+",
          "slug": "ift74"
        },
        {
          "symbol": "TEK",
          "ensemblId": "ENSG00000120156",
          "biotype": "protein_coding",
          "start": 27109030,
          "end": 27232092,
          "strand": "+",
          "slug": "tek"
        },
        {
          "symbol": "EQTN",
          "ensemblId": "ENSG00000120160",
          "biotype": "protein_coding",
          "start": 27284654,
          "end": 27297150,
          "strand": "-",
          "slug": "eqtn"
        },
        {
          "symbol": "MOB3B",
          "ensemblId": "ENSG00000120162",
          "biotype": "protein_coding",
          "start": 27325209,
          "end": 27529829,
          "strand": "-",
          "slug": "mob3b"
        },
        {
          "symbol": "IFNK",
          "ensemblId": "ENSG00000147896",
          "biotype": "protein_coding",
          "start": 27524290,
          "end": 27526498,
          "strand": "+",
          "slug": "ifnk"
        },
        {
          "symbol": "LINGO2",
          "ensemblId": "ENSG00000174482",
          "biotype": "protein_coding",
          "start": 27937617,
          "end": 29213913,
          "strand": "-",
          "slug": "lingo2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "amyotrophic-lateral-sclerosis",
        "name": "Amyotrophic Lateral Sclerosis (ALS)",
        "diseases": [
          {
            "mondoId": "MONDO:0004976",
            "name": "Amyotrophic Lateral Sclerosis",
            "genes": 29,
            "inheritance": null,
            "description": "A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.",
            "management": "Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/amyotrophic-lateral-sclerosis"
      },
      {
        "slug": "frontotemporal-dementia",
        "name": "Frontotemporal Dementia",
        "diseases": [
          {
            "mondoId": "MONDO:0030923",
            "name": "Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis",
            "genes": 9,
            "inheritance": "autosomal-dominant",
            "description": "Umbrella term for the genetic frontotemporal dementia and ALS spectrum, including forms caused by C9orf72, TBK1, VCP, SQSTM1 and other genes.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/frontotemporal-dementia"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Inherited Neurodegenerative Disorders",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "KIF5A-Related Neurodegenerative Disorder",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Caused by changes in one copy of KIF5A, which encodes a motor protein with a cargo-binding tail. Different types of change lead to different conditions: hereditary spastic paraplegia type 10, an axonal form of Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis (ALS).",
            "management": "Care is symptomatic and depends on the presentation, including physiotherapy, antispasticity medicines and multidisciplinary ALS care. Each child of an affected person has a 1 in 2 chance of inheriting the change; genetic counselling helps families understand this.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/inherited-neurodegenerative-disorders-selected-genes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-lower-motor-neuron-morphology",
        "name": "Abnormal lower motor neuron morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-lower-motor-neuron-morphology"
      },
      {
        "slug": "apraxia",
        "name": "Apraxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/apraxia"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delusion",
        "name": "Delusions",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delusion"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dyscalculia",
        "name": "Difficulty making arithmetical calculations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dyscalculia"
      },
      {
        "slug": "extrapyramidal-dyskinesia",
        "name": "Extrapyramidal dyskinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/extrapyramidal-dyskinesia"
      },
      {
        "slug": "frontotemporal-dementia",
        "name": "Frontotemporal dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/frontotemporal-dementia"
      },
      {
        "slug": "gliosis",
        "name": "Gliosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gliosis"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "apathy",
        "name": "Lack of feeling, emotion, interest",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/apathy"
      },
      {
        "slug": "neuronal-loss-in-central-nervous-system",
        "name": "Loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/neuronal-loss-in-central-nervous-system"
      },
      {
        "slug": "amyotrophic-lateral-sclerosis",
        "name": "Lou Gehrig's disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/amyotrophic-lateral-sclerosis"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "paraparesis",
        "name": "Partial paralysis of legs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/paraparesis"
      },
      {
        "slug": "supranuclear-gaze-palsy",
        "name": "Supranuclear gaze palsy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supranuclear-gaze-palsy"
      },
      {
        "slug": "tetraparesis",
        "name": "Tetraparesis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tetraparesis"
      }
    ],
    "related": [
      {
        "slug": "ccnf",
        "symbol": "CCNF",
        "name": "cyclin F",
        "shared": 3,
        "url": "https://dantelabs.com/cs/genes/ccnf"
      },
      {
        "slug": "chchd10",
        "symbol": "CHCHD10",
        "name": "coiled-coil-helix-coiled-coil-helix domain containing 10",
        "shared": 3,
        "url": "https://dantelabs.com/cs/genes/chchd10"
      },
      {
        "slug": "chmp2b",
        "symbol": "CHMP2B",
        "name": "charged multivesicular body protein 2B",
        "shared": 3,
        "url": "https://dantelabs.com/cs/genes/chmp2b"
      },
      {
        "slug": "cyld",
        "symbol": "CYLD",
        "name": "CYLD lysine 63 deubiquitinase",
        "shared": 3,
        "url": "https://dantelabs.com/cs/genes/cyld"
      },
      {
        "slug": "sqstm1",
        "symbol": "SQSTM1",
        "name": "sequestosome 1",
        "shared": 3,
        "url": "https://dantelabs.com/cs/genes/sqstm1"
      },
      {
        "slug": "tbk1",
        "symbol": "TBK1",
        "name": "TANK binding kinase 1",
        "shared": 3,
        "url": "https://dantelabs.com/cs/genes/tbk1"
      },
      {
        "slug": "vcp",
        "symbol": "VCP",
        "name": "valosin containing protein",
        "shared": 3,
        "url": "https://dantelabs.com/cs/genes/vcp"
      },
      {
        "slug": "als2",
        "symbol": "ALS2",
        "name": "alsin Rho guanine nucleotide exchange factor ALS2",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/als2"
      },
      {
        "slug": "ang",
        "symbol": "ANG",
        "name": "angiogenin",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/ang"
      },
      {
        "slug": "anxa11",
        "symbol": "ANXA11",
        "name": "annexin A11",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/anxa11"
      },
      {
        "slug": "dctn1",
        "symbol": "DCTN1",
        "name": "dynactin subunit 1",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/dctn1"
      },
      {
        "slug": "erbb4",
        "symbol": "ERBB4",
        "name": "erb-b2 receptor tyrosine kinase 4",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/erbb4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}