{
  "url": "https://dantelabs.com/tr/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 Hastalığı ve Hipomiyelinize Lökodistrofiler",
        "diseases": [
          {
            "mondoId": "MONDO:0017226",
            "name": "Pelizaeus-Merzbacher benzeri hastalık (GJC2 ve diğerleri)",
            "genes": 3,
            "inheritance": "autosomal-recessive",
            "description": "Pelizaeus-Merzbacher hastalığına çok benzeyen bir durum; en sık GJC2'deki değişikliklerden kaynaklanır. Erken dönem nistagmus, gecikmiş gelişim ve daha sonra spastisite ile seyreder.",
            "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/tr/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies"
      },
      {
        "slug": "primary-lymphoedema-lymphatic-malformations",
        "name": "Primer Lenfödem ve Lenfatik Malformasyonlar",
        "diseases": [
          {
            "mondoId": "MONDO:0013278",
            "name": "Lenfatik Malformasyon 3",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "GJC2'deki değişikliklerden kaynaklanan, genellikle çocukluk veya ergenlik döneminde başlayan kalıtsal lenfödem.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/primary-lymphoedema-lymphatic-malformations"
      },
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Kalıtsal Spastik Paraplezi",
        "diseases": [
          {
            "mondoId": "MONDO:0019064",
            "name": "Herediter Spastik Parapleji (Tüm Tipler)",
            "genes": 66,
            "inheritance": null,
            "description": "SPG4 (SPAST), en yaygın dominant form olmak üzere ve SPG5A, SPG6, SPG10, SPG18, SPG30 ile SPG31 dahil olmak üzere tüm herediter spastik paraplejileri kapsayan şemsiye terim.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/hereditary-spastic-paraplegia"
      },
      {
        "slug": "leukodystrophy",
        "name": "Diğer Kalıtsal Lökodistrofiler",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Lökodistrofi (diğer ve belirtilmemiş tipler)",
            "genes": 80,
            "inheritance": null,
            "description": "Beynin ve omuriliğin beyaz maddesi olan miyelinin hasar görmesine veya normal oluşumunun engellenmesine yol açan kalıtsal hastalıklar. Tipler, ilgili gene bağlı olarak otozomal resesif, otozomal dominant veya X’e bağlı kalıtım gösterir.",
            "management": "Spesifik genetik nedenin bilinmesi tanı arayışını sonlandırabilir, destekleyici bakım ve izlemeye yön verebilir, belirli bir tedavinin var olup olmadığını gösterebilir ve akrabaların test edilmesine olanak tanıyabilir.",
            "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/tr/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/tr/genes/hspd1"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/abcd1"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/aimp1"
      },
      {
        "slug": "plp1",
        "symbol": "PLP1",
        "name": "proteolipid protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/plp1"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/aars2"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/abhd16a"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/adar"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/aimp2"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/aldh18a1"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/aldh3a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}