{
  "url": "https://dantelabs.com/el/genes/gjb1",
  "gene": {
    "slug": "gjb1",
    "symbol": "GJB1",
    "name": "gap junction protein beta 1",
    "hgnc": "HGNC:4283",
    "summary": null,
    "location": "Xq13.1",
    "locusType": "gene with protein product",
    "aliases": [
      "CX32"
    ],
    "previousSymbols": [
      "CMTX1",
      "CMTX"
    ],
    "ensemblId": "ENSG00000169562",
    "entrezId": 2705,
    "omim": [
      "304040"
    ],
    "uniprot": [
      "P08034"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 71223224,
      "end": 71225516,
      "strand": "+",
      "ensemblTranscript": "ENST00000361726.7",
      "refseqTranscript": "NM_000166.6",
      "ensemblProtein": "ENSP00000354900.6",
      "refseqProtein": "NP_000157.1",
      "exons": [
        {
          "start": 71223224,
          "end": 71223335
        },
        {
          "start": 71223692,
          "end": 71225516
        }
      ],
      "cds": {
        "start": 71223708,
        "end": 71224559
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 70435044,
      "end": 70445366,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 70724370,
      "end": 71724369,
      "genes": [
        {
          "symbol": "TEX11",
          "ensemblId": "ENSG00000120498",
          "biotype": "protein_coding",
          "start": 70528940,
          "end": 70908711,
          "strand": "-",
          "slug": "tex11"
        },
        {
          "symbol": "SLC7A3",
          "ensemblId": "ENSG00000165349",
          "biotype": "protein_coding",
          "start": 70925556,
          "end": 70931149,
          "strand": "-",
          "slug": "slc7a3"
        },
        {
          "symbol": "SNX12",
          "ensemblId": "ENSG00000147164",
          "biotype": "protein_coding",
          "start": 70963111,
          "end": 71073426,
          "strand": "-",
          "slug": "snx12"
        },
        {
          "symbol": "FOXO4",
          "ensemblId": "ENSG00000184481",
          "biotype": "protein_coding",
          "start": 71095839,
          "end": 71103535,
          "strand": "+",
          "slug": "foxo4"
        },
        {
          "symbol": "CXorf65",
          "ensemblId": "ENSG00000204165",
          "biotype": "protein_coding",
          "start": 71103889,
          "end": 71106788,
          "strand": "-",
          "slug": "cxorf65"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285171",
          "biotype": "protein_coding",
          "start": 71103987,
          "end": 71111575,
          "strand": "-"
        },
        {
          "symbol": "IL2RG",
          "ensemblId": "ENSG00000147168",
          "biotype": "protein_coding",
          "start": 71107404,
          "end": 71112108,
          "strand": "-",
          "slug": "il2rg"
        },
        {
          "symbol": "MED12",
          "ensemblId": "ENSG00000184634",
          "biotype": "protein_coding",
          "start": 71118543,
          "end": 71144103,
          "strand": "+",
          "slug": "med12"
        },
        {
          "symbol": "NLGN3",
          "ensemblId": "ENSG00000196338",
          "biotype": "protein_coding",
          "start": 71143286,
          "end": 71175306,
          "strand": "+",
          "slug": "nlgn3"
        },
        {
          "symbol": "ZMYM3",
          "ensemblId": "ENSG00000147130",
          "biotype": "protein_coding",
          "start": 71239617,
          "end": 71255269,
          "strand": "-",
          "slug": "zmym3"
        },
        {
          "symbol": "NONO",
          "ensemblId": "ENSG00000147140",
          "biotype": "protein_coding",
          "start": 71254270,
          "end": 71301522,
          "strand": "+",
          "slug": "nono"
        },
        {
          "symbol": "ITGB1BP2",
          "ensemblId": "ENSG00000147166",
          "biotype": "protein_coding",
          "start": 71301717,
          "end": 71305371,
          "strand": "+",
          "slug": "itgb1bp2"
        },
        {
          "symbol": "TAF1",
          "ensemblId": "ENSG00000147133",
          "biotype": "protein_coding",
          "start": 71366129,
          "end": 71532374,
          "strand": "+",
          "slug": "taf1"
        },
        {
          "symbol": "OGT",
          "ensemblId": "ENSG00000147162",
          "biotype": "protein_coding",
          "start": 71533068,
          "end": 71575892,
          "strand": "+",
          "slug": "ogt"
        },
        {
          "symbol": "GCNA",
          "ensemblId": "ENSG00000147174",
          "biotype": "protein_coding",
          "start": 71578436,
          "end": 71613590,
          "strand": "+",
          "slug": "gcna"
        },
        {
          "symbol": "CXCR3",
          "ensemblId": "ENSG00000186810",
          "biotype": "protein_coding",
          "start": 71615912,
          "end": 71618545,
          "strand": "-",
          "slug": "cxcr3"
        },
        {
          "symbol": "CXorf49C",
          "ensemblId": "ENSG00000283599",
          "biotype": "protein_coding",
          "start": 71667542,
          "end": 71671527,
          "strand": "+",
          "slug": "cxorf49c"
        },
        {
          "symbol": "CXorf49",
          "ensemblId": "ENSG00000215115",
          "biotype": "protein_coding",
          "start": 71714369,
          "end": 71718307,
          "strand": "-",
          "slug": "cxorf49"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Νόσος Charcot-Marie-Tooth",
        "diseases": [
          {
            "mondoId": "MONDO:0015626",
            "name": "Νόσος Charcot-Marie-Tooth",
            "genes": 62,
            "inheritance": null,
            "description": "Μια ομάδα κληρονομικών περιφερικών νευροπαθειών που προκαλούν προοδευτική αδυναμία και ατροφία των απομακρυσμένων μυών και απώλεια αισθητικότητας, κυρίως στα πόδια και στα χέρια.",
            "management": "Γενετική συμβουλευτική, παρακολούθηση ανάλογα με τον υποτύπο, φυσικοθεραπεία, ορθωτικές συσκευές, αποφυγή νευροτοξικών φαρμάκων, κλινικές μελέτες ειδικές για συγκεκριμένα γονίδια, επιτήρηση για συναφή χαρακτηριστικά",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Σπάνιες κληρονομικές περιφερικές νευροπάθειες",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Κληρονομική περιφερική νευροπάθεια",
            "genes": 233,
            "inheritance": null,
            "description": "Προκαλείται από μεταβολές σε ένα από τα πολλά γονίδια που είναι απαραίτητα για τη διατήρηση της υγείας των μακριών νευρικών ινών. Σε αυτή την αναφορά, μεταξύ αυτών περιλαμβάνονται τα IGHMBP2 και PLEKHG5, τα οποία είναι υπολειπόμενα.",
            "management": "Η φυσικοθεραπεία, οι ορθώσεις και η εργοθεραπεία βοηθούν στη διατήρηση της κινητικότητας, με χειρουργική επέμβαση για παραμορφώσεις των ποδιών όταν χρειάζεται. Ορισμένες μορφές απαιτούν παρακολούθηση της αναπνοής. Η γενετική συμβουλευτική καθοδηγεί τον έλεγχο της οικογένειας σύμφωνα με τον τρόπο κληρονομικότητας του εμπλεκόμενου γονιδίου.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-nerve-conduction-velocity",
        "name": "Abnormal nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-nerve-conduction-velocity"
      },
      {
        "slug": "absent-achilles-reflex",
        "name": "Absent ankle reflexes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-achilles-reflex"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "axonal-degeneration",
        "name": "Axonal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/axonal-degeneration"
      },
      {
        "slug": "axonal-loss",
        "name": "Axonal loss",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axonal-loss"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "cerebellar-vermis-atrophy",
        "name": "Cerebellar vermis atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy"
      },
      {
        "slug": "clumsiness",
        "name": "Clumsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clumsiness"
      },
      {
        "slug": "sensory-neuropathy",
        "name": "Damage to nerves that sense feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensory-neuropathy"
      },
      {
        "slug": "decreased-motor-nerve-conduction-velocity",
        "name": "Decreased motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity"
      },
      {
        "slug": "decreased-number-of-peripheral-myelinated-nerve-fibers",
        "name": "Decreased number of peripheral myelinated nerve fibers",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-number-of-peripheral-myelinated-nerve-fibers"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "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": "decreased-absent-ankle-reflexes",
        "name": "Decreased/absent ankle reflexes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-absent-ankle-reflexes"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dysdiadochokinesis",
        "name": "Difficulty performing quick and alternating movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysdiadochokinesis"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      },
      {
        "slug": "distal-lower-limb-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "distal-upper-limb-amyotrophy",
        "name": "Distal upper limb amyotrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/distal-upper-limb-amyotrophy"
      },
      {
        "slug": "emg-neuropathic-changes",
        "name": "EMG: neuropathic changes",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emg-neuropathic-changes"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "hand-muscle-weakness",
        "name": "Hand muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hand-muscle-weakness"
      },
      {
        "slug": "hand-tremor",
        "name": "Hand tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hand-tremor"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "impaired-pain-sensation",
        "name": "Impaired pain sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-pain-sensation"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "language-impairment",
        "name": "Language impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/language-impairment"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "expressive-aphasia",
        "name": "Loss of expressive speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/expressive-aphasia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "onion-bulb-formation",
        "name": "Onion bulb formation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/onion-bulb-formation"
      },
      {
        "slug": "lower-limb-hyperreflexia",
        "name": "Overactive lower leg reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia"
      },
      {
        "slug": "paraparesis",
        "name": "Partial paralysis of legs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/paraparesis"
      },
      {
        "slug": "peripheral-axonal-degeneration",
        "name": "Peripheral axonal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-axonal-degeneration"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "progressive-cerebellar-ataxia",
        "name": "Progressive cerebellar ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia"
      },
      {
        "slug": "progressive-gait-ataxia",
        "name": "Progressive gait ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-gait-ataxia"
      },
      {
        "slug": "saccadic-smooth-pursuit-interruptions",
        "name": "Saccadic smooth pursuit interruptions",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/saccadic-smooth-pursuit-interruptions"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "achilles-tendon-contracture",
        "name": "Shortening of the achilles tendon",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/achilles-tendon-contracture"
      },
      {
        "slug": "spastic-dysarthria",
        "name": "Spastic dysarthria",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-dysarthria"
      },
      {
        "slug": "spinocerebellar-tract-degeneration",
        "name": "Spinocerebellar tract degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spinocerebellar-tract-degeneration"
      },
      {
        "slug": "tip-toe-gait",
        "name": "Toe walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tip-toe-gait"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/aars1"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/aifm1"
      },
      {
        "slug": "atp1a1",
        "symbol": "ATP1A1",
        "name": "ATPase Na+/K+ transporting subunit alpha 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/atp1a1"
      },
      {
        "slug": "cadm3",
        "symbol": "CADM3",
        "name": "cell adhesion molecule 3",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/cadm3"
      },
      {
        "slug": "cox6a1",
        "symbol": "COX6A1",
        "name": "cytochrome c oxidase subunit 6A1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/cox6a1"
      },
      {
        "slug": "dhtkd1",
        "symbol": "DHTKD1",
        "name": "dehydrogenase E1 and transketolase domain containing 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/dhtkd1"
      },
      {
        "slug": "dhx9",
        "symbol": "DHX9",
        "name": "DExH-box helicase 9",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/dhx9"
      },
      {
        "slug": "dnm2",
        "symbol": "DNM2",
        "name": "dynamin 2",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/dnm2"
      },
      {
        "slug": "drp2",
        "symbol": "DRP2",
        "name": "dystrophin related protein 2",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/drp2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/dync1h1"
      },
      {
        "slug": "egr2",
        "symbol": "EGR2",
        "name": "early growth response 2",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/egr2"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "name": "fibulin 5",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/fbln5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}