{
  "url": "https://dantelabs.com/fr/genes/sigmar1",
  "gene": {
    "slug": "sigmar1",
    "symbol": "SIGMAR1",
    "name": "sigma receptor chaperone 1",
    "hgnc": "HGNC:8157",
    "summary": null,
    "location": "9p13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "S1R",
      "SIGMA1R",
      "SR-BP1"
    ],
    "previousSymbols": [
      "OPRS1"
    ],
    "ensemblId": "ENSG00000147955",
    "entrezId": 10280,
    "omim": [
      "601978"
    ],
    "uniprot": [
      "Q99720"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 34634722,
      "end": 34637787,
      "strand": "-",
      "ensemblTranscript": "ENST00000277010.9",
      "refseqTranscript": "NM_005866.4",
      "ensemblProtein": "ENSP00000277010.4",
      "refseqProtein": "NP_005857.1",
      "exons": [
        {
          "start": 34634722,
          "end": 34635858
        },
        {
          "start": 34636997,
          "end": 34637089
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        {
          "start": 34637220,
          "end": 34637420
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        {
          "start": 34637547,
          "end": 34637787
        }
      ],
      "cds": {
        "start": 34635632,
        "end": 34637697
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 34634719,
      "end": 34637806,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 34136255,
      "end": 35136254,
      "genes": [
        {
          "symbol": "UBAP1",
          "ensemblId": "ENSG00000165006",
          "biotype": "protein_coding",
          "start": 34179005,
          "end": 34252523,
          "strand": "+",
          "slug": "ubap1"
        },
        {
          "symbol": "KIF24",
          "ensemblId": "ENSG00000186638",
          "biotype": "protein_coding",
          "start": 34248327,
          "end": 34329282,
          "strand": "-",
          "slug": "kif24"
        },
        {
          "symbol": "NUDT2",
          "ensemblId": "ENSG00000164978",
          "biotype": "protein_coding",
          "start": 34329496,
          "end": 34343713,
          "strand": "+",
          "slug": "nudt2"
        },
        {
          "symbol": "MYORG",
          "ensemblId": "ENSG00000164976",
          "biotype": "protein_coding",
          "start": 34366623,
          "end": 34377150,
          "strand": "-",
          "slug": "myorg"
        },
        {
          "symbol": "SPMIP6",
          "ensemblId": "ENSG00000164972",
          "biotype": "protein_coding",
          "start": 34379019,
          "end": 34397828,
          "strand": "-",
          "slug": "spmip6"
        },
        {
          "symbol": "FAM219A",
          "ensemblId": "ENSG00000164970",
          "biotype": "protein_coding",
          "start": 34398184,
          "end": 34458591,
          "strand": "-",
          "slug": "fam219a"
        },
        {
          "symbol": "DNAI1",
          "ensemblId": "ENSG00000122735",
          "biotype": "protein_coding",
          "start": 34457414,
          "end": 34520988,
          "strand": "+",
          "slug": "dnai1"
        },
        {
          "symbol": "ENHO",
          "ensemblId": "ENSG00000168913",
          "biotype": "protein_coding",
          "start": 34521043,
          "end": 34523174,
          "strand": "-",
          "slug": "enho"
        },
        {
          "symbol": "CNTFR",
          "ensemblId": "ENSG00000122756",
          "biotype": "protein_coding",
          "start": 34551423,
          "end": 34593478,
          "strand": "-",
          "slug": "cntfr"
        },
        {
          "symbol": "RPP25L",
          "ensemblId": "ENSG00000164967",
          "biotype": "protein_coding",
          "start": 34610486,
          "end": 34612605,
          "strand": "-",
          "slug": "rpp25l"
        },
        {
          "symbol": "DCTN3",
          "ensemblId": "ENSG00000137100",
          "biotype": "protein_coding",
          "start": 34613545,
          "end": 34620529,
          "strand": "-",
          "slug": "dctn3"
        },
        {
          "symbol": "ARID3C",
          "ensemblId": "ENSG00000205143",
          "biotype": "protein_coding",
          "start": 34621049,
          "end": 34630503,
          "strand": "-",
          "slug": "arid3c"
        },
        {
          "symbol": "GALT",
          "ensemblId": "ENSG00000213930",
          "biotype": "protein_coding",
          "start": 34637367,
          "end": 34651754,
          "strand": "+",
          "slug": "galt"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000258728",
          "biotype": "protein_coding",
          "start": 34646631,
          "end": 34661886,
          "strand": "+"
        },
        {
          "symbol": "IL11RA",
          "ensemblId": "ENSG00000137070",
          "biotype": "protein_coding",
          "start": 34651582,
          "end": 34661902,
          "strand": "+",
          "slug": "il11ra"
        },
        {
          "symbol": "CCL27",
          "ensemblId": "ENSG00000213927",
          "biotype": "protein_coding",
          "start": 34661880,
          "end": 34664048,
          "strand": "-",
          "slug": "ccl27"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000187186",
          "biotype": "protein_coding",
          "start": 34664163,
          "end": 34666122,
          "strand": "-"
        },
        {
          "symbol": "CCL19",
          "ensemblId": "ENSG00000172724",
          "biotype": "protein_coding",
          "start": 34689562,
          "end": 34691355,
          "strand": "-",
          "slug": "ccl19"
        },
        {
          "symbol": "CCL21",
          "ensemblId": "ENSG00000137077",
          "biotype": "protein_coding",
          "start": 34709005,
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          "strand": "-",
          "slug": "ccl21"
        },
        {
          "symbol": "SPATA31F1",
          "ensemblId": "ENSG00000205108",
          "biotype": "protein_coding",
          "start": 34719196,
          "end": 34729538,
          "strand": "-",
          "slug": "spata31f1"
        },
        {
          "symbol": "SPATA31F3",
          "ensemblId": "ENSG00000187791",
          "biotype": "protein_coding",
          "start": 34889062,
          "end": 34895797,
          "strand": "-",
          "slug": "spata31f3"
        },
        {
          "symbol": "PHF24",
          "ensemblId": "ENSG00000122733",
          "biotype": "protein_coding",
          "start": 34957608,
          "end": 34982544,
          "strand": "+",
          "slug": "phf24"
        },
        {
          "symbol": "DNAJB5",
          "ensemblId": "ENSG00000137094",
          "biotype": "protein_coding",
          "start": 34989641,
          "end": 34999403,
          "strand": "+",
          "slug": "dnajb5"
        },
        {
          "symbol": "SPATA31G1",
          "ensemblId": "ENSG00000174038",
          "biotype": "protein_coding",
          "start": 35041095,
          "end": 35045986,
          "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": "Sclérose latérale amyotrophique (SLA)",
        "diseases": [
          {
            "mondoId": "MONDO:0004976",
            "name": "Sclérose latérale amyotrophique",
            "genes": 29,
            "inheritance": null,
            "description": "Un trouble neurodégénératif touchant les motoneurones supérieurs et inférieurs, se présentant sous des formes sporadiques ou familiales.",
            "management": "Tofersen (Qalsody, autorisation FDA 2023) pour la SLA liée à SOD1 ; essais d'ASO pour C9orf72 et FUS ; riluzole ; édaravone ; AMX0035 (phénylbutyrate de sodium-taurursodiol) ; prise en charge multidisciplinaire en centre expert SLA ; assistance respiratoire ; conseil génétique pour les membres de la famille",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/amyotrophic-lateral-sclerosis"
      },
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Maladie de Charcot-Marie-Tooth",
        "diseases": [
          {
            "mondoId": "MONDO:0018894",
            "name": "Neuropathie motrice héréditaire distale",
            "genes": 22,
            "inheritance": null,
            "description": "Neuropathies héréditaires touchant principalement les nerfs moteurs, provoquant une faiblesse et une atrophie des mains et des pieds, y compris la neuropathie liée à SORD.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "spinal-muscular-atrophy",
        "name": "Amyotrophie spinale",
        "diseases": [
          {
            "mondoId": "MONDO:0001516",
            "name": "Amyotrophie spinale",
            "genes": 28,
            "inheritance": null,
            "description": "Groupe d'affections caractérisées par la dégénérescence des cellules de la corne antérieure de la moelle épinière, entraînant une faiblesse et une atrophie musculaires progressives.",
            "management": "Thérapie génique (onasemnogene abeparvovec), traitement par oligonucléotides antisens (nusinersen), modulateur d'épissage par voie orale (risdiplam), soins de support",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/spinal-muscular-atrophy"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Maladies neurodégénératives héréditaires",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "Maladie neurodégénérative liée à KIF5A",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Causée par des modifications d'une copie du gène KIF5A, qui code une protéine motrice dotée d'une queue de liaison à sa cargaison. Différents types de modifications entraînent différentes affections : la paraplégie spastique héréditaire de type 10, une forme axonale de la maladie de Charcot-Marie-Tooth et la sclérose latérale amyotrophique (SLA).",
            "management": "La prise en charge est symptomatique et dépend de la forme clinique ; elle comprend la kinésithérapie, des médicaments contre la spasticité et un suivi pluridisciplinaire de la SLA. Chaque enfant d'une personne atteinte a une chance sur 2 d'hériter de la modification ; le conseil génétique aide les familles à comprendre ce risque.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Neuropathies périphériques héréditaires rares",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Neuropathie périphérique héréditaire",
            "genes": 233,
            "inheritance": null,
            "description": "Causée par des modifications dans l'un des nombreux gènes nécessaires au maintien en bon état des longues fibres nerveuses. Dans ce rapport, ces gènes comprennent IGHMBP2 et PLEKHG5, dont la transmission est récessive.",
            "management": "La kinésithérapie, les orthèses et l'ergothérapie aident à préserver la mobilité, avec une chirurgie des déformations du pied si nécessaire. Certaines formes nécessitent une surveillance respiratoire. Le conseil génétique oriente le dépistage familial selon le mode de transmission du gène concerné.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/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/fr/genes/dctn1"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/atp7a"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/bscl2"
      },
      {
        "slug": "chchd10",
        "symbol": "CHCHD10",
        "name": "coiled-coil-helix-coiled-coil-helix domain containing 10",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/chchd10"
      },
      {
        "slug": "dnajb2",
        "symbol": "DNAJB2",
        "name": "DnaJ heat shock protein family (Hsp40) member B2",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/dnajb2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/dync1h1"
      },
      {
        "slug": "emilin1",
        "symbol": "EMILIN1",
        "name": "elastin microfibril interfacer 1",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/emilin1"
      },
      {
        "slug": "fbxo38",
        "symbol": "FBXO38",
        "name": "F-box protein 38",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/fbxo38"
      },
      {
        "slug": "gars1",
        "symbol": "GARS1",
        "name": "glycyl-tRNA synthetase 1",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/gars1"
      },
      {
        "slug": "hspb8",
        "symbol": "HSPB8",
        "name": "heat shock protein family B (small) member 8",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/hspb8"
      },
      {
        "slug": "ighmbp2",
        "symbol": "IGHMBP2",
        "name": "immunoglobulin mu DNA binding protein 2",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/ighmbp2"
      },
      {
        "slug": "plekhg5",
        "symbol": "PLEKHG5",
        "name": "pleckstrin homology and RhoGEF domain containing G5",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/plekhg5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}