{
  "url": "https://dantelabs.com/no/genes/sigmar1",
  "gene": {
    "slug": "sigmar1",
    "symbol": "SIGMAR1",
    "name": "sigma receptor chaperone 1",
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    "summary": null,
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      "OPRS1"
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      "601978"
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    "uniprot": [
      "Q99720"
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      "release": "v1.5",
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      "strand": "-",
      "ensemblTranscript": "ENST00000277010.9",
      "refseqTranscript": "NM_005866.4",
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      "build": "GRCh37",
      "release": "87",
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      "end": 34637806,
      "strand": "-"
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    "neighbourhood": {
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        {
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          "ensemblId": "ENSG00000165006",
          "biotype": "protein_coding",
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          "end": 34252523,
          "strand": "+",
          "slug": "ubap1"
        },
        {
          "symbol": "KIF24",
          "ensemblId": "ENSG00000186638",
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          "start": 34248327,
          "end": 34329282,
          "strand": "-",
          "slug": "kif24"
        },
        {
          "symbol": "NUDT2",
          "ensemblId": "ENSG00000164978",
          "biotype": "protein_coding",
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          "end": 34343713,
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        {
          "symbol": "MYORG",
          "ensemblId": "ENSG00000164976",
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          "end": 34377150,
          "strand": "-",
          "slug": "myorg"
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        {
          "symbol": "SPMIP6",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "spmip6"
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        {
          "symbol": "FAM219A",
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        {
          "symbol": "DNAI1",
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          "strand": "+",
          "slug": "dnai1"
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        {
          "symbol": "ENHO",
          "ensemblId": "ENSG00000168913",
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          "end": 34523174,
          "strand": "-",
          "slug": "enho"
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        {
          "symbol": "CNTFR",
          "ensemblId": "ENSG00000122756",
          "biotype": "protein_coding",
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        {
          "symbol": "RPP25L",
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        {
          "symbol": "DCTN3",
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        {
          "symbol": "ARID3C",
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        {
          "symbol": "GALT",
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        {
          "symbol": "",
          "ensemblId": "ENSG00000258728",
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        {
          "symbol": "IL11RA",
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          "slug": "il11ra"
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        {
          "symbol": "CCL27",
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        {
          "symbol": "",
          "ensemblId": "ENSG00000187186",
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        {
          "symbol": "CCL19",
          "ensemblId": "ENSG00000172724",
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        {
          "symbol": "CCL21",
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        {
          "symbol": "SPATA31F1",
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          "biotype": "protein_coding",
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        {
          "symbol": "SPATA31F3",
          "ensemblId": "ENSG00000187791",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "spata31f3"
        },
        {
          "symbol": "PHF24",
          "ensemblId": "ENSG00000122733",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "phf24"
        },
        {
          "symbol": "DNAJB5",
          "ensemblId": "ENSG00000137094",
          "biotype": "protein_coding",
          "start": 34989641,
          "end": 34999403,
          "strand": "+",
          "slug": "dnajb5"
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        {
          "symbol": "SPATA31G1",
          "ensemblId": "ENSG00000174038",
          "biotype": "protein_coding",
          "start": 35041095,
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          "strand": "+",
          "slug": "spata31g1"
        },
        {
          "symbol": "VCP",
          "ensemblId": "ENSG00000165280",
          "biotype": "protein_coding",
          "start": 35053928,
          "end": 35072725,
          "strand": "-",
          "slug": "vcp"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288699",
          "biotype": "protein_coding",
          "start": 35065339,
          "end": 35074175,
          "strand": "-"
        },
        {
          "symbol": "FANCG",
          "ensemblId": "ENSG00000221829",
          "biotype": "protein_coding",
          "start": 35073793,
          "end": 35082444,
          "strand": "-",
          "slug": "fancg"
        },
        {
          "symbol": "PIGO",
          "ensemblId": "ENSG00000165282",
          "biotype": "protein_coding",
          "start": 35085492,
          "end": 35096632,
          "strand": "-",
          "slug": "pigo"
        },
        {
          "symbol": "STOML2",
          "ensemblId": "ENSG00000165283",
          "biotype": "protein_coding",
          "start": 35099469,
          "end": 35103195,
          "strand": "-",
          "slug": "stoml2"
        },
        {
          "symbol": "ATOSB",
          "ensemblId": "ENSG00000005238",
          "biotype": "protein_coding",
          "start": 35104112,
          "end": 35116357,
          "strand": "-",
          "slug": "atosb"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "amyotrophic-lateral-sclerosis",
        "name": "Amyotrofisk lateral sklerose (ALS)",
        "diseases": [
          {
            "mondoId": "MONDO:0004976",
            "name": "Amyotrofisk lateral sklerose",
            "genes": 29,
            "inheritance": null,
            "description": "En nevrodegenerativ lidelse i øvre og nedre motoriske nevroner, som forekommer i sporadiske og familiære former.",
            "management": "Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO-studier for C9orf72 og FUS; riluzol; edaravon; AMX0035 (natriumfenylbutyrat-taurursodiol); oppfølging ved multidisiplinær ALS-klinikk; respirasjonsstøtte; genetisk veiledning for familiemedlemmer",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/amyotrophic-lateral-sclerosis"
      },
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Charcot-Marie-Tooth-sykdom",
        "diseases": [
          {
            "mondoId": "MONDO:0018894",
            "name": "Distal hereditær motorisk nevropati",
            "genes": 22,
            "inheritance": null,
            "description": "Arvelige nevropatier som hovedsakelig rammer motoriske nerver og gir svakhet og muskelatrofi i hender og føtter, inkludert SORD-relatert nevropati.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "spinal-muscular-atrophy",
        "name": "Spinal muskelatrofi",
        "diseases": [
          {
            "mondoId": "MONDO:0001516",
            "name": "Spinal muskelatrofi",
            "genes": 28,
            "inheritance": null,
            "description": "En gruppe sykdommer preget av degenerasjon av fremre hornceller i ryggmargen, som fører til progressiv muskelsvakhet og muskelatrofi.",
            "management": "Genterapi (onasemnogen abeparvovec), antisense-oligonukleotidbehandling (nusinersen), oral splicing-modifikator (risdiplam), støttende behandling",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/spinal-muscular-atrophy"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Arvelige nevrodegenerative sykdommer",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "KIF5A-relatert nevrodegenerativ sykdom",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Forårsaket av endringer i én kopi av KIF5A, som koder for et motorprotein med en halevedel som binder last. Ulike typer endringer fører til ulike tilstander: hereditær spastisk paraplegi type 10, en aksonal form av Charcot-Marie-Tooths sykdom og amyotrofisk lateralsklerose (ALS).",
            "management": "Behandlingen er symptomatisk og avhenger av sykdomsbildet, og omfatter fysioterapi, legemidler mot spastisitet og tverrfaglig ALS-oppfølging. Hvert barn av en berørt person har 1 av 2 sjanse for å arve endringen; genetisk veiledning hjelper familier å forstå dette.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Sjeldne arvelige perifere nevropatier",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Arvelig perifer nevropati",
            "genes": 233,
            "inheritance": null,
            "description": "Forårsaket av endringer i ett av mange gener som trengs for å holde lange nervefibre friske. I denne rapporten gjelder dette blant annet IGHMBP2 og PLEKHG5, som er recessive.",
            "management": "Fysioterapi, ortoser og ergoterapi bidrar til å opprettholde bevegelighet, og kirurgi for fotdeformiteter gjøres ved behov. Noen former krever oppfølging av pusten. Genetisk veiledning hjelper til med testing av familie etter arvemønsteret for det aktuelle genet.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "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-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "abnormal-cerebellum-morphology",
        "name": "Abnormality of the cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology"
      },
      {
        "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": "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": "arm-dystonia",
        "name": "Arm dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arm-dystonia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "axial-dystonia",
        "name": "Axial dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/axial-dystonia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "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": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "bulbar-signs",
        "name": "Bulbar signs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bulbar-signs"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "claw-hand-deformity",
        "name": "Claw hand deformity",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/claw-hand-deformity"
      },
      {
        "slug": "clonus",
        "name": "Clonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clonus"
      },
      {
        "slug": "cns-hypomyelination",
        "name": "CNS hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cns-hypomyelination"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "decreased-compound-muscle-action-potential-amplitude",
        "name": "Decreased compound muscle action potential amplitude",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-compound-muscle-action-potential-amplitude"
      },
      {
        "slug": "decreased-motor-nerve-conduction-velocity",
        "name": "Decreased motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "gastrostomy-tube-feeding-in-infancy",
        "name": "Gastrostomy tube feeding in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrostomy-tube-feeding-in-infancy"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hammertoe",
        "name": "Hammertoe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hammertoe"
      },
      {
        "slug": "head-titubation",
        "name": "Head titubation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/head-titubation"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "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": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "anarthria",
        "name": "Loss of articulate speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anarthria"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "amyotrophic-lateral-sclerosis",
        "name": "Lou Gehrig's disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/amyotrophic-lateral-sclerosis"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "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": "lower-limb-joint-contracture",
        "name": "Lower-limb joint contracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-limb-joint-contracture"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-fiber-atrophy",
        "name": "Muscle fiber degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-fiber-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neck-flexor-weakness",
        "name": "Neck flexion weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neck-flexor-weakness"
      },
      {
        "slug": "opisthotonus",
        "name": "Opisthotonus",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/opisthotonus"
      },
      {
        "slug": "oromandibular-dystonia",
        "name": "Oromandibular dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oromandibular-dystonia"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "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"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "retrocollis",
        "name": "Retrocollis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retrocollis"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "spastic-diplegia",
        "name": "Spastic diplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-diplegia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "spinal-muscular-atrophy",
        "name": "Spinal muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/spinal-muscular-atrophy"
      },
      {
        "slug": "supranuclear-gaze-palsy",
        "name": "Supranuclear gaze palsy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supranuclear-gaze-palsy"
      },
      {
        "slug": "tip-toe-gait",
        "name": "Toe walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tip-toe-gait"
      },
      {
        "slug": "upper-limb-spasticity",
        "name": "Uncontrollable movement in upper arms",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/upper-limb-spasticity"
      },
      {
        "slug": "upper-limb-joint-contracture",
        "name": "Upper-limb joint contracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/upper-limb-joint-contracture"
      },
      {
        "slug": "cachexia",
        "name": "Wasting syndrome",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cachexia"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      },
      {
        "slug": "weakness-of-the-intrinsic-hand-muscles",
        "name": "Weakness of the intrinsic hand muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/weakness-of-the-intrinsic-hand-muscles"
      }
    ],
    "related": [
      {
        "slug": "dctn1",
        "symbol": "DCTN1",
        "name": "dynactin subunit 1",
        "shared": 5,
        "url": "https://dantelabs.com/no/genes/dctn1"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
        "shared": 4,
        "url": "https://dantelabs.com/no/genes/atp7a"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 4,
        "url": "https://dantelabs.com/no/genes/bscl2"
      },
      {
        "slug": "chchd10",
        "symbol": "CHCHD10",
        "name": "coiled-coil-helix-coiled-coil-helix domain containing 10",
        "shared": 4,
        "url": "https://dantelabs.com/no/genes/chchd10"
      },
      {
        "slug": "dnajb2",
        "symbol": "DNAJB2",
        "name": "DnaJ heat shock protein family (Hsp40) member B2",
        "shared": 4,
        "url": "https://dantelabs.com/no/genes/dnajb2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 4,
        "url": "https://dantelabs.com/no/genes/dync1h1"
      },
      {
        "slug": "emilin1",
        "symbol": "EMILIN1",
        "name": "elastin microfibril interfacer 1",
        "shared": 4,
        "url": "https://dantelabs.com/no/genes/emilin1"
      },
      {
        "slug": "fbxo38",
        "symbol": "FBXO38",
        "name": "F-box protein 38",
        "shared": 4,
        "url": "https://dantelabs.com/no/genes/fbxo38"
      },
      {
        "slug": "gars1",
        "symbol": "GARS1",
        "name": "glycyl-tRNA synthetase 1",
        "shared": 4,
        "url": "https://dantelabs.com/no/genes/gars1"
      },
      {
        "slug": "hspb8",
        "symbol": "HSPB8",
        "name": "heat shock protein family B (small) member 8",
        "shared": 4,
        "url": "https://dantelabs.com/no/genes/hspb8"
      },
      {
        "slug": "ighmbp2",
        "symbol": "IGHMBP2",
        "name": "immunoglobulin mu DNA binding protein 2",
        "shared": 4,
        "url": "https://dantelabs.com/no/genes/ighmbp2"
      },
      {
        "slug": "plekhg5",
        "symbol": "PLEKHG5",
        "name": "pleckstrin homology and RhoGEF domain containing G5",
        "shared": 4,
        "url": "https://dantelabs.com/no/genes/plekhg5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}