{
  "url": "https://dantelabs.com/el/genes/atp1a1",
  "gene": {
    "slug": "atp1a1",
    "symbol": "ATP1A1",
    "name": "ATPase Na+/K+ transporting subunit alpha 1",
    "hgnc": "HGNC:799",
    "summary": null,
    "location": "1p13.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000163399",
    "entrezId": 476,
    "omim": [
      "182310"
    ],
    "uniprot": [
      "P05023"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 116373244,
      "end": 116404774,
      "strand": "+",
      "ensemblTranscript": "ENST00000295598.10",
      "refseqTranscript": "NM_000701.8",
      "ensemblProtein": "ENSP00000295598.5",
      "refseqProtein": "NP_000692.2",
      "exons": [
        {
          "start": 116373244,
          "end": 116373523
        },
        {
          "start": 116384014,
          "end": 116384124
        },
        {
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        },
        {
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          "end": 116387491
        },
        {
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          "end": 116388244
        },
        {
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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": 116395285
        },
        {
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        },
        {
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        },
        {
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          "end": 116398789
        },
        {
          "start": 116398930,
          "end": 116399084
        },
        {
          "start": 116399420,
          "end": 116399543
        },
        {
          "start": 116400861,
          "end": 116401006
        },
        {
          "start": 116401130,
          "end": 116401260
        },
        {
          "start": 116401554,
          "end": 116401655
        },
        {
          "start": 116403884,
          "end": 116403975
        },
        {
          "start": 116404416,
          "end": 116404774
        }
      ],
      "cds": {
        "start": 116373512,
        "end": 116404444
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 116915290,
      "end": 116952883,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 115889009,
      "end": 116889008,
      "genes": [
        {
          "symbol": "SLC22A15",
          "ensemblId": "ENSG00000163393",
          "biotype": "protein_coding",
          "start": 115976310,
          "end": 116072747,
          "strand": "+",
          "slug": "slc22a15"
        },
        {
          "symbol": "MAB21L3",
          "ensemblId": "ENSG00000173212",
          "biotype": "protein_coding",
          "start": 116111068,
          "end": 116138149,
          "strand": "+",
          "slug": "mab21l3"
        },
        {
          "symbol": "CD58",
          "ensemblId": "ENSG00000116815",
          "biotype": "protein_coding",
          "start": 116499485,
          "end": 116571061,
          "strand": "-",
          "slug": "cd58"
        },
        {
          "symbol": "IGSF3",
          "ensemblId": "ENSG00000143061",
          "biotype": "protein_coding",
          "start": 116574393,
          "end": 116667820,
          "strand": "-",
          "slug": "igsf3"
        },
        {
          "symbol": "CD2",
          "ensemblId": "ENSG00000116824",
          "biotype": "protein_coding",
          "start": 116754370,
          "end": 116769229,
          "strand": "+",
          "slug": "cd2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-hypomagnesemia",
        "name": "Οικογενής υπομαγνησιαιμία",
        "diseases": [
          {
            "mondoId": "MONDO:0018100",
            "name": "Οικογενής πρωτοπαθής υπομαγνησιαιμία",
            "genes": 9,
            "inheritance": null,
            "description": "Ομάδα κληρονομικών διαταραχών απώλειας μαγνησίου που προκαλούνται από μεταλλάξεις σε γονίδια όπως τα CLDN16, CLDN19, TRPM6, CNNM2 και FXYD2· οι μορφές που σχετίζονται με τα CLDN16 και CLDN19 μπορεί να εξελιχθούν σε χρόνια νεφρική νόσο.",
            "management": "Η συμπληρωματική χορήγηση μαγνησίου μπορεί να ελέγξει τα συμπτώματα, και ορισμένες μορφές απαιτούν παρακολούθηση της νεφρικής λειτουργίας και της όρασης.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/familial-hypomagnesemia"
      },
      {
        "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": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/charcot-marie-tooth-disease-type-1"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "generalized-onset-seizure",
        "name": "Generalized-onset seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-onset-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "steppage-gait",
        "name": "High stepping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/steppage-gait"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "impaired-distal-vibration-sensation",
        "name": "Impaired distal vibration sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "hypomagnesemia",
        "name": "Low blood magnesium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypomagnesemia"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-speech"
      },
      {
        "slug": "episodic-hypokalemia",
        "name": "Recurrent low potassium",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-hypokalemia"
      },
      {
        "slug": "renal-magnesium-wasting",
        "name": "Renal magnesium wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-magnesium-wasting"
      },
      {
        "slug": "renal-potassium-wasting",
        "name": "Renal potassium wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-potassium-wasting"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "self-biting",
        "name": "Self-biting",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/self-biting"
      },
      {
        "slug": "cerebral-hypoplasia",
        "name": "Small cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-hypoplasia"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aars1"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aifm1"
      },
      {
        "slug": "cadm3",
        "symbol": "CADM3",
        "name": "cell adhesion molecule 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cadm3"
      },
      {
        "slug": "cldn16",
        "symbol": "CLDN16",
        "name": "claudin 16",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cldn16"
      },
      {
        "slug": "cldn19",
        "symbol": "CLDN19",
        "name": "claudin 19",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cldn19"
      },
      {
        "slug": "cnnm2",
        "symbol": "CNNM2",
        "name": "cyclin and CBS domain divalent metal cation transport mediator 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cnnm2"
      },
      {
        "slug": "cox6a1",
        "symbol": "COX6A1",
        "name": "cytochrome c oxidase subunit 6A1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cox6a1"
      },
      {
        "slug": "dhtkd1",
        "symbol": "DHTKD1",
        "name": "dehydrogenase E1 and transketolase domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dhtkd1"
      },
      {
        "slug": "dhx9",
        "symbol": "DHX9",
        "name": "DExH-box helicase 9",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dhx9"
      },
      {
        "slug": "dnm2",
        "symbol": "DNM2",
        "name": "dynamin 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dnm2"
      },
      {
        "slug": "drp2",
        "symbol": "DRP2",
        "name": "dystrophin related protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/drp2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dync1h1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}