{
  "url": "https://dantelabs.com/fi/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-Merzbacherin tauti ja hypomyelinoivat leukodystrofiat",
        "diseases": [
          {
            "mondoId": "MONDO:0017226",
            "name": "Pelizaeus-Merzbacherin tautia muistuttava tila (GJC2 ja muut geenit)",
            "genes": 3,
            "inheritance": "autosomal-recessive",
            "description": "Tila, joka muistuttaa läheisesti Pelizaeus-Merzbacherin tautia. Sitä aiheuttavat useimmiten GJC2-geenin muutokset, ja siihen liittyy varhainen nystagmus, viivästynyt kehitys ja myöhemmin spastisuus.",
            "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/fi/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies"
      },
      {
        "slug": "primary-lymphoedema-lymphatic-malformations",
        "name": "Ensisijainen lymfedeema ja lymfaattiset malformaatiot",
        "diseases": [
          {
            "mondoId": "MONDO:0013278",
            "name": "Lymfaattinen malformaatio 3",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "GJC2-geenin muutosten aiheuttama perinnöllinen lymfedeema, joka yleensä alkaa lapsuudessa tai nuoruudessa.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/primary-lymphoedema-lymphatic-malformations"
      },
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Perinnöllinen spastinen paraplegia",
        "diseases": [
          {
            "mondoId": "MONDO:0019064",
            "name": "Perinnöllinen spastinen paraplegia (kaikki tyypit)",
            "genes": 66,
            "inheritance": null,
            "description": "Yhteisnimitys kaikille perinnöllisille spastisille paraplegioille, mukaan lukien SPG4 (SPAST), yleisin dominantti muoto, sekä SPG5A, SPG6, SPG10, SPG18, SPG30 ja SPG31.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/hereditary-spastic-paraplegia"
      },
      {
        "slug": "leukodystrophy",
        "name": "Muut perinnölliset leukodystrofiat",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leukodystrofia (muut ja määrittelemättömät tyypit)",
            "genes": 80,
            "inheritance": null,
            "description": "Perinnölliset sairaudet, jotka vahingoittavat myeliinituppea eli aivojen ja selkäytimen valkeaa ainetta tai estävät sen normaalin muodostumisen. Eri tyypit periytyvät autosomaalisesti resessiivisesti, autosomaalisesti dominantisti tai X-kromosomaalisesti sen mukaan, mikä geeni on kyseessä.",
            "management": "Tiedossa oleva geneettinen syy voi lopettaa diagnoosin etsimisen, ohjata tukihoitoa ja seurantaa, osoittaa, onko olemassa tiettyä hoitoa, sekä mahdollistaa sukulaisten testauksen.",
            "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/fi/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": 3,
        "url": "https://dantelabs.com/fi/genes/hspd1"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/abcd1"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/aimp1"
      },
      {
        "slug": "plp1",
        "symbol": "PLP1",
        "name": "proteolipid protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/plp1"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aars2"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/abhd16a"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/adar"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aimp2"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aldh18a1"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aldh3a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}