{
  "url": "https://dantelabs.com/sv/genes/gjc2",
  "gene": {
    "slug": "gjc2",
    "symbol": "GJC2",
    "name": "gap junction protein gamma 2",
    "hgnc": "HGNC:17494",
    "summary": null,
    "location": "1q42.13",
    "locusType": "gene with protein product",
    "aliases": [
      "CX47",
      "CX46.6",
      "SPG44"
    ],
    "previousSymbols": [
      "GJA12"
    ],
    "ensemblId": "ENSG00000198835",
    "entrezId": 57165,
    "omim": [
      "608803"
    ],
    "uniprot": [
      "Q5T442"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 228149930,
      "end": 228159826,
      "strand": "+",
      "ensemblTranscript": "ENST00000366714.3",
      "refseqTranscript": "NM_020435.4",
      "ensemblProtein": "ENSP00000355675.2",
      "refseqProtein": "NP_065168.2",
      "exons": [
        {
          "start": 228149930,
          "end": 228150007
        },
        {
          "start": 228157740,
          "end": 228159826
        }
      ],
      "cds": {
        "start": 228157759,
        "end": 228159078
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 228337553,
      "end": 228347527,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 227654878,
      "end": 228654877,
      "genes": [
        {
          "symbol": "ZNF678",
          "ensemblId": "ENSG00000181450",
          "biotype": "protein_coding",
          "start": 227542091,
          "end": 227679669,
          "strand": "+",
          "slug": "znf678"
        },
        {
          "symbol": "SNAP47",
          "ensemblId": "ENSG00000143740",
          "biotype": "protein_coding",
          "start": 227728200,
          "end": 227781826,
          "strand": "+",
          "slug": "snap47"
        },
        {
          "symbol": "JMJD4",
          "ensemblId": "ENSG00000081692",
          "biotype": "protein_coding",
          "start": 227730412,
          "end": 227735413,
          "strand": "-",
          "slug": "jmjd4"
        },
        {
          "symbol": "PRSS38",
          "ensemblId": "ENSG00000185888",
          "biotype": "protein_coding",
          "start": 227815675,
          "end": 227846478,
          "strand": "+",
          "slug": "prss38"
        },
        {
          "symbol": "WNT9A",
          "ensemblId": "ENSG00000143816",
          "biotype": "protein_coding",
          "start": 227918656,
          "end": 227947939,
          "strand": "-",
          "slug": "wnt9a"
        },
        {
          "symbol": "WNT3A",
          "ensemblId": "ENSG00000154342",
          "biotype": "protein_coding",
          "start": 228006924,
          "end": 228061328,
          "strand": "+",
          "slug": "wnt3a"
        },
        {
          "symbol": "ARF1",
          "ensemblId": "ENSG00000143761",
          "biotype": "protein_coding",
          "start": 228081841,
          "end": 228099212,
          "strand": "+",
          "slug": "arf1"
        },
        {
          "symbol": "C1orf35",
          "ensemblId": "ENSG00000143793",
          "biotype": "protein_coding",
          "start": 228099030,
          "end": 228105411,
          "strand": "-",
          "slug": "c1orf35"
        },
        {
          "symbol": "MRPL55",
          "ensemblId": "ENSG00000162910",
          "biotype": "protein_coding",
          "start": 228105949,
          "end": 228109358,
          "strand": "-",
          "slug": "mrpl55"
        },
        {
          "symbol": "GUK1",
          "ensemblId": "ENSG00000143774",
          "biotype": "protein_coding",
          "start": 228139962,
          "end": 228148984,
          "strand": "+",
          "slug": "guk1"
        },
        {
          "symbol": "IBA57",
          "ensemblId": "ENSG00000181873",
          "biotype": "protein_coding",
          "start": 228165777,
          "end": 228182257,
          "strand": "+",
          "slug": "iba57"
        },
        {
          "symbol": "OBSCN",
          "ensemblId": "ENSG00000154358",
          "biotype": "protein_coding",
          "start": 228208026,
          "end": 228378876,
          "strand": "+",
          "slug": "obscn"
        },
        {
          "symbol": "TRIM11",
          "ensemblId": "ENSG00000154370",
          "biotype": "protein_coding",
          "start": 228393672,
          "end": 228406841,
          "strand": "-",
          "slug": "trim11"
        },
        {
          "symbol": "TRIM17",
          "ensemblId": "ENSG00000162931",
          "biotype": "protein_coding",
          "start": 228406860,
          "end": 228416902,
          "strand": "-",
          "slug": "trim17"
        },
        {
          "symbol": "H3-4",
          "ensemblId": "ENSG00000168148",
          "biotype": "protein_coding",
          "start": 228424845,
          "end": 228425360,
          "strand": "-",
          "slug": "h3-4"
        },
        {
          "symbol": "H2AC25",
          "ensemblId": "ENSG00000181218",
          "biotype": "protein_coding",
          "start": 228434777,
          "end": 228457873,
          "strand": "-",
          "slug": "h2ac25"
        },
        {
          "symbol": "H2BC26",
          "ensemblId": "ENSG00000196890",
          "biotype": "protein_coding",
          "start": 228458103,
          "end": 228463104,
          "strand": "+",
          "slug": "h2bc26"
        },
        {
          "symbol": "RNF187",
          "ensemblId": "ENSG00000168159",
          "biotype": "protein_coding",
          "start": 228487357,
          "end": 228499899,
          "strand": "+",
          "slug": "rnf187"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies",
        "name": "Pelizaeus-Merzbacher-sjukdom och hypomyeliniserande leukodystrofier",
        "diseases": [
          {
            "mondoId": "MONDO:0017226",
            "name": "Pelizaeus-Merzbacher-liknande sjukdom (GJC2 och andra)",
            "genes": 3,
            "inheritance": "autosomal-recessive",
            "description": "Ett tillstånd som till stor del liknar Pelizaeus-Merzbacher-sjukdom, oftast orsakat av förändringar i GJC2, med tidigt nystagmus, försenad utveckling och senare spasticitet.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies"
      },
      {
        "slug": "primary-lymphoedema-lymphatic-malformations",
        "name": "Primär lymfödem och lymfatiska missbildningar",
        "diseases": [
          {
            "mondoId": "MONDO:0013278",
            "name": "Lymfatisk missbildning 3",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Ärftligt lymfödem orsakat av förändringar i GJC2, vanligtvis med debut i barndom eller ungdom.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/primary-lymphoedema-lymphatic-malformations"
      },
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Hereditär spastisk paraplegi",
        "diseases": [
          {
            "mondoId": "MONDO:0019064",
            "name": "Hereditär spastisk paraplegi (alla typer)",
            "genes": 66,
            "inheritance": null,
            "description": "Samlingsbegrepp för alla hereditära spastiska paraplegier, inklusive SPG4 (SPAST), den vanligaste dominanta formen, samt SPG5A, SPG6, SPG10, SPG18, SPG30 och SPG31.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/hereditary-spastic-paraplegia"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Ärftliga neurodegenerativa sjukdomar",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "KIF5A-relaterad neurodegenerativ sjukdom",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Orsakas av förändringar i en kopia av KIF5A, som kodar för ett motorprotein med en svans som binder lastmolekyler. Olika typer av förändringar leder till olika tillstånd: hereditär spastisk paraplegi typ 10, en axonal form av Charcot-Marie-Tooths sjukdom och amyotrofisk lateralskleros (ALS).",
            "management": "Vården är symtomlindrande och beror på hur sjukdomen visar sig, och omfattar bland annat sjukgymnastik, läkemedel mot spasticitet och multidisciplinär ALS-vård. Varje barn till en drabbad person har 1 av 2 chans att ärva förändringen; genetisk rådgivning hjälper familjer att förstå detta.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "leukodystrophy",
        "name": "Andra ärftliga leukodystrofier",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leukodystrofi (andra och ej specificerade typer)",
            "genes": 80,
            "inheritance": null,
            "description": "Ärftliga tillstånd som skadar eller förhindrar den normala bildningen av myelin, den vita substansen i hjärnan och ryggmärgen. Olika typer följer autosomalt recessiv, autosomalt dominant eller X-kopplad nedärvning beroende på vilken gen som är inblandad.",
            "management": "Att känna till den specifika genetiska orsaken kan avsluta en diagnostisk sökning, vägleda stödjande vård och uppföljning, visa om en specifik behandling finns och göra det möjligt att testa släktingar.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/leukodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-auditory-evoked-potentials",
        "name": "Abnormal auditory evoked potentials",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-auditory-evoked-potentials"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-lymphatic-vessel-morphology",
        "name": "Abnormal lymphatic vessel morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-lymphatic-vessel-morphology"
      },
      {
        "slug": "abnormal-motor-evoked-potentials",
        "name": "Abnormal motor evoked potentials",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-motor-evoked-potentials"
      },
      {
        "slug": "abnormality-of-somatosensory-evoked-potentials",
        "name": "Abnormality of somatosensory evoked potentials",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-somatosensory-evoked-potentials"
      },
      {
        "slug": "abnormality-of-visual-evoked-potentials",
        "name": "Abnormality of visual evoked potentials",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-visual-evoked-potentials"
      },
      {
        "slug": "ankle-swelling",
        "name": "Ankle swelling",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ankle-swelling"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "cerebral-hypomyelination",
        "name": "Cerebral hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-hypomyelination"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cns-hypomyelination",
        "name": "CNS hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cns-hypomyelination"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "decreased-motor-nerve-conduction-velocity",
        "name": "Decreased motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity"
      },
      {
        "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": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "demyelinating-motor-neuropathy",
        "name": "Demyelinating motor neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/demyelinating-motor-neuropathy"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "edema-of-the-dorsum-of-hands",
        "name": "Edema of the dorsum of hands",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/edema-of-the-dorsum-of-hands"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "facial-edema",
        "name": "Facial puffiness",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-edema"
      },
      {
        "slug": "pedal-edema",
        "name": "Fluid accumulation in lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pedal-edema"
      },
      {
        "slug": "focal-aware-seizure",
        "name": "Focal aware seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-aware-seizure"
      },
      {
        "slug": "focal-impaired-awareness-seizure",
        "name": "Focal impaired awareness seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure"
      },
      {
        "slug": "genital-edema",
        "name": "Genital edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/genital-edema"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "head-titubation",
        "name": "Head titubation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/head-titubation"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "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": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/poor-speech"
      },
      {
        "slug": "venous-insufficiency",
        "name": "Poorly functioning veins",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/venous-insufficiency"
      },
      {
        "slug": "predominantly-lower-limb-lymphedema",
        "name": "Predominantly lower limb lymphedema",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/predominantly-lower-limb-lymphedema"
      },
      {
        "slug": "progressive-spasticity",
        "name": "Progressive spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-spasticity"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "rotary-nystagmus",
        "name": "Rotary nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/rotary-nystagmus"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "sensory-axonal-neuropathy",
        "name": "Sensory axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensory-axonal-neuropathy"
      },
      {
        "slug": "slow-saccadic-eye-movements",
        "name": "Slow eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slow-saccadic-eye-movements"
      },
      {
        "slug": "somatic-sensory-dysfunction",
        "name": "Somatic sensory dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction"
      },
      {
        "slug": "spastic-paraparesis",
        "name": "Spastic paraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-paraparesis"
      },
      {
        "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": "spastic-gait",
        "name": "Spastic walk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "lymphedema",
        "name": "Swelling caused by excess lymph fluid under skin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/lymphedema"
      },
      {
        "slug": "upper-limb-spasticity",
        "name": "Uncontrollable movement in upper arms",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/upper-limb-spasticity"
      },
      {
        "slug": "hypoplasia-of-lymphatic-vessels",
        "name": "Underdeveloped lymphatic vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-lymphatic-vessels"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "urinary-bladder-sphincter-dysfunction",
        "name": "Urinary bladder sphincter dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urinary-bladder-sphincter-dysfunction"
      },
      {
        "slug": "varicose-veins",
        "name": "Varicose veins",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/varicose-veins"
      }
    ],
    "related": [
      {
        "slug": "hspd1",
        "symbol": "HSPD1",
        "name": "heat shock protein family D (Hsp60) member 1",
        "shared": 4,
        "url": "https://dantelabs.com/sv/genes/hspd1"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/abcd1"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/aimp1"
      },
      {
        "slug": "plp1",
        "symbol": "PLP1",
        "name": "proteolipid protein 1",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/plp1"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/aars2"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/abhd16a"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/adar"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/aimp2"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/aldh18a1"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/aldh3a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}