{
  "url": "https://dantelabs.com/el/genes/elp1",
  "gene": {
    "slug": "elp1",
    "symbol": "ELP1",
    "name": "elongator acetyltransferase complex subunit 1",
    "hgnc": "HGNC:5959",
    "summary": null,
    "location": "9q31.3",
    "locusType": "gene with protein product",
    "aliases": [
      "IKAP",
      "TOT1",
      "IKI3"
    ],
    "previousSymbols": [
      "DYS",
      "IKBKAP"
    ],
    "ensemblId": "ENSG00000070061",
    "entrezId": 8518,
    "omim": [
      "603722"
    ],
    "uniprot": [
      "O95163"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 108867517,
      "end": 108934124,
      "strand": "-",
      "ensemblTranscript": "ENST00000374647.10",
      "refseqTranscript": "NM_003640.5",
      "ensemblProtein": "ENSP00000363779.5",
      "refseqProtein": "NP_003631.2",
      "exons": [
        {
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        },
        {
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        },
        {
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        {
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        },
        {
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        },
        {
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        },
        {
          "start": 108898671,
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        },
        {
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        },
        {
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        },
        {
          "start": 108901425,
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
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        },
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          "end": 108917670
        },
        {
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        },
        {
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        },
        {
          "start": 108922842,
          "end": 108922927
        },
        {
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          "end": 108926603
        },
        {
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        },
        {
          "start": 108929769,
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        },
        {
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        },
        {
          "start": 108933864,
          "end": 108934124
        }
      ],
      "cds": {
        "start": 108869115,
        "end": 108931146
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 111629797,
      "end": 111696396,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 108400821,
      "end": 109400820,
      "genes": [
        {
          "symbol": "ACTL7B",
          "ensemblId": "ENSG00000148156",
          "biotype": "protein_coding",
          "start": 108854588,
          "end": 108855986,
          "strand": "-",
          "slug": "actl7b"
        },
        {
          "symbol": "ACTL7A",
          "ensemblId": "ENSG00000187003",
          "biotype": "protein_coding",
          "start": 108862266,
          "end": 108863756,
          "strand": "+",
          "slug": "actl7a"
        },
        {
          "symbol": "ABITRAM",
          "ensemblId": "ENSG00000119328",
          "biotype": "protein_coding",
          "start": 108934130,
          "end": 108950941,
          "strand": "+",
          "slug": "abitram"
        },
        {
          "symbol": "CTNNAL1",
          "ensemblId": "ENSG00000119326",
          "biotype": "protein_coding",
          "start": 108942569,
          "end": 109013645,
          "strand": "-",
          "slug": "ctnnal1"
        },
        {
          "symbol": "TMEM245",
          "ensemblId": "ENSG00000106771",
          "biotype": "protein_coding",
          "start": 109015135,
          "end": 109119975,
          "strand": "-",
          "slug": "tmem245"
        },
        {
          "symbol": "FRRS1L",
          "ensemblId": "ENSG00000260230",
          "biotype": "protein_coding",
          "start": 109130293,
          "end": 109167249,
          "strand": "-",
          "slug": "frrs1l"
        },
        {
          "symbol": "EPB41L4B",
          "ensemblId": "ENSG00000095203",
          "biotype": "protein_coding",
          "start": 109171463,
          "end": 109321068,
          "strand": "-",
          "slug": "epb41l4b"
        },
        {
          "symbol": "PTPN3",
          "ensemblId": "ENSG00000070159",
          "biotype": "protein_coding",
          "start": 109375464,
          "end": 109498343,
          "strand": "-",
          "slug": "ptpn3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-sensory-and-autonomic-neuropathies",
        "name": "Κληρονομικές αισθητικές και αυτονομές νευροπάθειες (συμπεριλαμβανομένης της Οικογενούς Δυσαυτονομίας)",
        "diseases": [
          {
            "mondoId": "MONDO:0015364",
            "name": "Κληρονομική αισθητική και αυτονομή νευροπάθεια",
            "genes": 21,
            "inheritance": null,
            "description": "Μια ομάδα νευροπαθειών, που περιλαμβάνει την οικογενή δυσαυτονομία (ELP1), την HSAN1 (SPTLC1/SPTLC2), την HSAN2 (WNK1, RETREG1) και τη συγγενή αναλγησία (NTRK1, SCN9A, PRDM12). Οι περισσότερες από αυτές είναι υπολειπόμενες, ενώ η HSAN1 είναι επικρατής.",
            "management": "Προστασία από απαρατήρητους τραυματισμούς, εγκαύματα και λοιμώξεις, διαχείριση των αυτονομών συμπτωμάτων και έλεγχος φορέα για συγγενείς (η οικογενής δυσαυτονομία περιλαμβάνεται στον έλεγχο φορέων Ασκενάζι Εβραϊκής καταγωγής).",
            "evidence": {
              "gencc": [
                "G2P",
                "Natera"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hereditary-sensory-and-autonomic-neuropathies"
      },
      {
        "slug": "medulloblastoma",
        "name": "Μεδουλλοβλάστωμα",
        "diseases": [
          {
            "mondoId": "MONDO:0007959",
            "name": "μεδουλλοβλάστωμα",
            "genes": 3,
            "inheritance": "autosomal-dominant",
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/medulloblastoma"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-renal-physiology",
        "name": "Abnormal kidney function",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-renal-physiology"
      },
      {
        "slug": "abnormal-peritoneum-morphology",
        "name": "Abnormal peritoneum morphology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-peritoneum-morphology"
      },
      {
        "slug": "abnormal-pleura-morphology",
        "name": "Abnormal pleura morphology",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pleura-morphology"
      },
      {
        "slug": "abnormality-of-the-kidney",
        "name": "Abnormality of the kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-kidney"
      },
      {
        "slug": "abnormal-pupil-morphology",
        "name": "Abnormality of the pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pupil-morphology"
      },
      {
        "slug": "alacrima",
        "name": "Absence of tears in the eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/alacrima"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "osteolysis",
        "name": "Breakdown of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteolysis"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "corneal-ulceration",
        "name": "Corneal ulceration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/corneal-ulceration"
      },
      {
        "slug": "corneal-erosion",
        "name": "Damage to outer layer of the cornea of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-erosion"
      },
      {
        "slug": "avascular-necrosis",
        "name": "Death of bone due to decreased blood supply",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/avascular-necrosis"
      },
      {
        "slug": "orthostatic-hypotension",
        "name": "Decrease in blood pressure upon standing up",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/orthostatic-hypotension"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "slug": "decreased-corneal-reflex",
        "name": "Decreased corneal reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/decreased-corneal-reflex"
      },
      {
        "slug": "decreased-number-of-large-peripheral-myelinated-nerve-fibers",
        "name": "Decreased number of large peripheral myelinated nerve fibers",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-number-of-large-peripheral-myelinated-nerve-fibers"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "decreased-sensitivity-to-hypoxemia",
        "name": "Decreased sensitivity to hypoxemia",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-sensitivity-to-hypoxemia"
      },
      {
        "slug": "hypogeusia",
        "name": "Decreased taste",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypogeusia"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "heterochromia-iridis",
        "name": "Different colored eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/heterochromia-iridis"
      },
      {
        "slug": "elevated-circulating-creatinine-concentration",
        "name": "Elevated creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "glomerular-sclerosis",
        "name": "Glomerular sclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/glomerular-sclerosis"
      },
      {
        "slug": "glomerulopathy",
        "name": "Glomerulopathy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glomerulopathy"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "impaired-pain-sensation",
        "name": "Impaired pain sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-pain-sensation"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "increased-blood-urea-nitrogen",
        "name": "Increased blood urea nitrogen",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-blood-urea-nitrogen"
      },
      {
        "slug": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "malignant-hyperthermia",
        "name": "Malignant hyperthermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malignant-hyperthermia"
      },
      {
        "slug": "medulloblastoma",
        "name": "Medulloblastoma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/medulloblastoma"
      },
      {
        "slug": "neuropathic-arthropathy",
        "name": "Neuropathic arthropathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/neuropathic-arthropathy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "acrocyanosis",
        "name": "Persistent blue color of hands or feet",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acrocyanosis"
      },
      {
        "slug": "pupillary-hypersensitivity-to-parasympathomimetic-agents",
        "name": "Pupillary hypersensitivity to parasympathomimetic agents",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/pupillary-hypersensitivity-to-parasympathomimetic-agents"
      },
      {
        "slug": "recurrent-corneal-erosions",
        "name": "Recurrent breakdown of clear protective layer of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/recurrent-corneal-erosions"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "recurrent-infections-due-to-aspiration",
        "name": "Recurrent infections due to aspiration",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-infections-due-to-aspiration"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "episodic-hyperhidrosis",
        "name": "Sporadic excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/episodic-hyperhidrosis"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aifm1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atl1"
      },
      {
        "slug": "atl3",
        "symbol": "ATL3",
        "name": "atlastin GTPase 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atl3"
      },
      {
        "slug": "clcf1",
        "symbol": "CLCF1",
        "name": "cardiotrophin like cytokine factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/clcf1"
      },
      {
        "slug": "crlf1",
        "symbol": "CRLF1",
        "name": "cytokine receptor like factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/crlf1"
      },
      {
        "slug": "dnmt1",
        "symbol": "DNMT1",
        "name": "DNA methyltransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dnmt1"
      },
      {
        "slug": "dst",
        "symbol": "DST",
        "name": "dystonin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dst"
      },
      {
        "slug": "gpr161",
        "symbol": "GPR161",
        "name": "G protein-coupled receptor 161",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/gpr161"
      },
      {
        "slug": "kif1a",
        "symbol": "KIF1A",
        "name": "kinesin family member 1A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/kif1a"
      },
      {
        "slug": "klhl7",
        "symbol": "KLHL7",
        "name": "kelch like family member 7",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/klhl7"
      },
      {
        "slug": "ngf",
        "symbol": "NGF",
        "name": "nerve growth factor",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ngf"
      },
      {
        "slug": "ntrk1",
        "symbol": "NTRK1",
        "name": "neurotrophic receptor tyrosine kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ntrk1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}