{
  "url": "https://dantelabs.com/pl/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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        },
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        },
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        },
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        },
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        },
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          "end": 116399084
        },
        {
          "start": 116399420,
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        },
        {
          "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": "Hipomagnezemia rodzinna",
        "diseases": [
          {
            "mondoId": "MONDO:0018100",
            "name": "Pierwotna hipomagnezemia rodzinna",
            "genes": 9,
            "inheritance": null,
            "description": "Grupa dziedzicznych zaburzeń polegających na nadmiernym wydalaniu magnezu, wywoływanych przez warianty w genach takich jak CLDN16, CLDN19, TRPM6, CNNM2 i FXYD2. Postacie związane z genami CLDN16 i CLDN19 mogą prowadzić do przewlekłej choroby nerek.",
            "management": "Suplementacja magnezem może kontrolować objawy, a niektóre postacie wymagają monitorowania czynności nerek i oczu.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/familial-hypomagnesemia"
      },
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Choroba Charcota-Mariego-Tootha",
        "diseases": [
          {
            "mondoId": "MONDO:0015626",
            "name": "Choroba Charcota-Mariego-Tootha",
            "genes": 62,
            "inheritance": null,
            "description": "Grupa dziedzicznych neuropatii obwodowych, prowadzących do postępującego osłabienia i zaniku mięśni dystalnych oraz utraty czucia, głównie w stopach i dłoniach.",
            "management": "Poradnictwo genetyczne, monitorowanie zależne od podtypu, fizjoterapia, ortezy, unikanie leków neurotoksycznych, badania kliniczne ukierunkowane na konkretne geny, kontrola cech towarzyszących",
            "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/pl/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/pl/genes/aars1"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/aifm1"
      },
      {
        "slug": "cadm3",
        "symbol": "CADM3",
        "name": "cell adhesion molecule 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cadm3"
      },
      {
        "slug": "cldn16",
        "symbol": "CLDN16",
        "name": "claudin 16",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cldn16"
      },
      {
        "slug": "cldn19",
        "symbol": "CLDN19",
        "name": "claudin 19",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cldn19"
      },
      {
        "slug": "cnnm2",
        "symbol": "CNNM2",
        "name": "cyclin and CBS domain divalent metal cation transport mediator 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cnnm2"
      },
      {
        "slug": "cox6a1",
        "symbol": "COX6A1",
        "name": "cytochrome c oxidase subunit 6A1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cox6a1"
      },
      {
        "slug": "dhtkd1",
        "symbol": "DHTKD1",
        "name": "dehydrogenase E1 and transketolase domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dhtkd1"
      },
      {
        "slug": "dhx9",
        "symbol": "DHX9",
        "name": "DExH-box helicase 9",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dhx9"
      },
      {
        "slug": "dnm2",
        "symbol": "DNM2",
        "name": "dynamin 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dnm2"
      },
      {
        "slug": "drp2",
        "symbol": "DRP2",
        "name": "dystrophin related protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/drp2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dync1h1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}