{
  "url": "https://dantelabs.com/nl/genes/tfg",
  "gene": {
    "slug": "tfg",
    "symbol": "TFG",
    "name": "trafficking from ER to golgi regulator",
    "hgnc": "HGNC:11758",
    "summary": null,
    "location": "3q12.2",
    "locusType": "gene with protein product",
    "aliases": [
      "TF6",
      "FLJ36137",
      "SPG57"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000114354",
    "entrezId": 10342,
    "omim": [
      "602498"
    ],
    "uniprot": [
      "Q92734"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 100709494,
      "end": 100748964,
      "strand": "+",
      "ensemblTranscript": "ENST00000240851.9",
      "refseqTranscript": "NM_006070.6",
      "ensemblProtein": "ENSP00000240851.4",
      "refseqProtein": "NP_006061.2",
      "exons": [
        {
          "start": 100709494,
          "end": 100709721
        },
        {
          "start": 100713643,
          "end": 100713869
        },
        {
          "start": 100719975,
          "end": 100720058
        },
        {
          "start": 100728712,
          "end": 100728858
        },
        {
          "start": 100732508,
          "end": 100732672
        },
        {
          "start": 100736576,
          "end": 100736716
        },
        {
          "start": 100744833,
          "end": 100744931
        },
        {
          "start": 100748149,
          "end": 100748964
        }
      ],
      "cds": {
        "start": 100713686,
        "end": 100748531
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 100428205,
      "end": 100467810,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 100229229,
      "end": 101229228,
      "genes": [
        {
          "symbol": "TBC1D23",
          "ensemblId": "ENSG00000036054",
          "biotype": "protein_coding",
          "start": 100260780,
          "end": 100325251,
          "strand": "+",
          "slug": "tbc1d23"
        },
        {
          "symbol": "NIT2",
          "ensemblId": "ENSG00000114021",
          "biotype": "protein_coding",
          "start": 100334625,
          "end": 100361635,
          "strand": "+",
          "slug": "nit2"
        },
        {
          "symbol": "TOMM70",
          "ensemblId": "ENSG00000154174",
          "biotype": "protein_coding",
          "start": 100363431,
          "end": 100401423,
          "strand": "-",
          "slug": "tomm70"
        },
        {
          "symbol": "LNP1",
          "ensemblId": "ENSG00000206535",
          "biotype": "protein_coding",
          "start": 100401192,
          "end": 100457739,
          "strand": "+",
          "slug": "lnp1"
        },
        {
          "symbol": "TMEM45A",
          "ensemblId": "ENSG00000181458",
          "biotype": "protein_coding",
          "start": 100492219,
          "end": 100579281,
          "strand": "+",
          "slug": "tmem45a"
        },
        {
          "symbol": "ADGRG7",
          "ensemblId": "ENSG00000144820",
          "biotype": "protein_coding",
          "start": 100609596,
          "end": 100695479,
          "strand": "+",
          "slug": "adgrg7"
        },
        {
          "symbol": "ABI3BP",
          "ensemblId": "ENSG00000154175",
          "biotype": "protein_coding",
          "start": 100749155,
          "end": 100993517,
          "strand": "-",
          "slug": "abi3bp"
        },
        {
          "symbol": "IMPG2",
          "ensemblId": "ENSG00000081148",
          "biotype": "protein_coding",
          "start": 101222546,
          "end": 101320575,
          "strand": "-",
          "slug": "impg2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Erfelijke spastische paraplegie",
        "diseases": [
          {
            "mondoId": "MONDO:0019064",
            "name": "Hereditaire spastische paraplegie (alle typen)",
            "genes": 66,
            "inheritance": null,
            "description": "Overkoepelende term voor alle hereditaire spastische paraplegieën, waaronder SPG4 (SPAST), de meest voorkomende dominante vorm, en SPG5A, SPG6, SPG10, SPG18, SPG30 en SPG31.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/hereditary-spastic-paraplegia"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Erfelijke neurodegeneratieve aandoeningen",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "Met KIF5A samenhangende neurodegeneratieve aandoening",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Veroorzaakt door veranderingen in één kopie van KIF5A, een motoreiwit met een staart die vracht bindt. Verschillende soorten veranderingen leiden tot verschillende aandoeningen: hereditaire spastische paraplegie type 10, een axonale vorm van de ziekte van Charcot-Marie-Tooth en amyotrofe laterale sclerose (ALS).",
            "management": "De zorg is symptomatisch en hangt af van het ziektebeeld; zij omvat fysiotherapie, medicijnen tegen spasticiteit en multidisciplinaire ALS-zorg. Elk kind van een aangedane persoon heeft een kans van 1 op 2 om de verandering te erven; erfelijkheidsadvies helpt gezinnen dit te begrijpen.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Zeldzame erfelijke perifere neuropathieën",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Erfelijke perifere neuropathie",
            "genes": 233,
            "inheritance": null,
            "description": "Veroorzaakt door veranderingen in een van de vele genen die nodig zijn om lange zenuwvezels gezond te houden. In dit rapport gaat het onder meer om IGHMBP2 en PLEKHG5, die recessief zijn.",
            "management": "Fysiotherapie, orthesen en ergotherapie helpen de beweeglijkheid te behouden; bij voetmisvormingen kan een operatie nodig zijn. Sommige vormen vragen om controle van de ademhaling. Erfelijkheidsadvies begeleidt het testen van familieleden volgens het overervingspatroon van het betrokken gen.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cranial-nerve-physiology",
        "name": "Abnormal cranial nerve physiology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cranial-nerve-physiology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-glucose-homeostasis",
        "name": "Abnormal glucose homeostasis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-glucose-homeostasis"
      },
      {
        "slug": "abnormal-myelination",
        "name": "Abnormal myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-myelination"
      },
      {
        "slug": "abnormal-peripheral-action-potential-amplitude",
        "name": "Abnormal peripheral action potential amplitude",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-peripheral-action-potential-amplitude"
      },
      {
        "slug": "abnormal-seventh-cranial-physiology",
        "name": "Abnormal seventh cranial physiology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-seventh-cranial-physiology"
      },
      {
        "slug": "abnormality-of-peripheral-nerve-conduction",
        "name": "Abnormality of peripheral nerve conduction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormality-of-peripheral-nerve-conduction"
      },
      {
        "slug": "abnormal-achilles-tendon-morphology",
        "name": "Abnormality of the Achilles tendon",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-achilles-tendon-morphology"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "aspiration-pneumonia",
        "name": "Aspiration pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aspiration-pneumonia"
      },
      {
        "slug": "axonal-degeneration",
        "name": "Axonal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/axonal-degeneration"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "bulbar-signs",
        "name": "Bulbar signs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bulbar-signs"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "sensory-neuropathy",
        "name": "Damage to nerves that sense feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensory-neuropathy"
      },
      {
        "slug": "upper-limb-muscle-weakness",
        "name": "Decreased arm strength",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/upper-limb-muscle-weakness"
      },
      {
        "slug": "decreased-number-of-peripheral-myelinated-nerve-fibers",
        "name": "Decreased number of peripheral myelinated nerve fibers",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-number-of-peripheral-myelinated-nerve-fibers"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "degeneration-of-anterior-horn-cells",
        "name": "Degeneration of anterior horn cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/degeneration-of-anterior-horn-cells"
      },
      {
        "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": "demyelinating-motor-neuropathy",
        "name": "Demyelinating motor neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/demyelinating-motor-neuropathy"
      },
      {
        "slug": "difficulty-standing",
        "name": "Difficulty in standing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/difficulty-standing"
      },
      {
        "slug": "difficulty-climbing-stairs",
        "name": "Difficulty walking up stairs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/difficulty-climbing-stairs"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      },
      {
        "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": "hyperlipidemia",
        "name": "Elevated lipids in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperlipidemia"
      },
      {
        "slug": "emg-positive-sharp-waves",
        "name": "EMG: positive sharp waves",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emg-positive-sharp-waves"
      },
      {
        "slug": "fatiguable-weakness-of-proximal-limb-muscles",
        "name": "Fatiguable weakness of proximal limb muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatiguable-weakness-of-proximal-limb-muscles"
      },
      {
        "slug": "gliosis",
        "name": "Gliosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gliosis"
      },
      {
        "slug": "hand-muscle-atrophy",
        "name": "Hand muscle degeneration",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hand-muscle-atrophy"
      },
      {
        "slug": "hand-tremor",
        "name": "Hand tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hand-tremor"
      },
      {
        "slug": "hyperglycemia",
        "name": "High blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperglycemia"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intermittent-painful-muscle-spasms",
        "name": "Intermittent painful muscle spasms",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intermittent-painful-muscle-spasms"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "limb-fasciculations",
        "name": "Limb fasciculations",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-fasciculations"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "lower-cranial-nerve-dysfunction",
        "name": "Lower cranial nerve dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-cranial-nerve-dysfunction"
      },
      {
        "slug": "lower-limb-amyotrophy",
        "name": "Lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-amyotrophy"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "lower-limb-spasticity",
        "name": "Lower limb spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "mildly-elevated-creatine-kinase",
        "name": "Mildly elevated creatine kinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/mildly-elevated-creatine-kinase"
      },
      {
        "slug": "motor-polyneuropathy",
        "name": "Motor polyneuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/motor-polyneuropathy"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "fasciculations",
        "name": "Muscle twitch",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/fasciculations"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "nasogastric-tube-feeding-in-infancy",
        "name": "Nasogastric tube feeding in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nasogastric-tube-feeding-in-infancy"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "tetraplegia",
        "name": "Paralysis of all four limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tetraplegia"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "respiratory-failure-requiring-assisted-ventilation",
        "name": "Respiratory failure requiring assisted ventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-failure-requiring-assisted-ventilation"
      },
      {
        "slug": "somatic-sensory-dysfunction",
        "name": "Somatic sensory dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "muscle-fibrillation",
        "name": "Twitching",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-fibrillation"
      },
      {
        "slug": "abnormality-of-the-urinary-system",
        "name": "Urinary tract abnormalities",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-urinary-system"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "proximal-amyotrophy",
        "name": "Wasting of muscles near the body",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/proximal-amyotrophy"
      }
    ],
    "related": [
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/atl1"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/bscl2"
      },
      {
        "slug": "fars2",
        "symbol": "FARS2",
        "name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/fars2"
      },
      {
        "slug": "hpdl",
        "symbol": "HPDL",
        "name": "4-hydroxyphenylpyruvate dioxygenase like",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/hpdl"
      },
      {
        "slug": "kif1a",
        "symbol": "KIF1A",
        "name": "kinesin family member 1A",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/kif1a"
      },
      {
        "slug": "reep1",
        "symbol": "REEP1",
        "name": "receptor accessory protein 1",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/reep1"
      },
      {
        "slug": "rtn2",
        "symbol": "RTN2",
        "name": "reticulon 2",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/rtn2"
      },
      {
        "slug": "spg11",
        "symbol": "SPG11",
        "name": "SPG11 vesicle trafficking associated, spatacsin",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/spg11"
      },
      {
        "slug": "sptan1",
        "symbol": "SPTAN1",
        "name": "spectrin alpha, non-erythrocytic 1",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/sptan1"
      },
      {
        "slug": "tecpr2",
        "symbol": "TECPR2",
        "name": "tectonin beta-propeller repeat containing 2",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/tecpr2"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/aars1"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/abcd1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}