{
  "url": "https://dantelabs.com/nl/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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          "end": 116388772
        },
        {
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          "end": 116389019
        },
        {
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        },
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        },
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          "end": 116390891
        },
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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
        },
        {
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          "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": "Familiaire hypomagnesiëmie",
        "diseases": [
          {
            "mondoId": "MONDO:0018100",
            "name": "Familiaire primaire hypomagnesiëmie",
            "genes": 9,
            "inheritance": null,
            "description": "Een groep erfelijke aandoeningen waarbij magnesium via de urine verloren gaat, veroorzaakt door varianten in genen zoals CLDN16, CLDN19, TRPM6, CNNM2 en FXYD2. De vormen door CLDN16- en CLDN19-varianten kunnen zich ontwikkelen tot chronische nierziekte.",
            "management": "Magnesiumsuppletie kan de klachten onder controle houden. Bij sommige vormen is controle van de nierfunctie en van de ogen nodig.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/familial-hypomagnesemia"
      },
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Charcot-Marie-Tooth-ziekte",
        "diseases": [
          {
            "mondoId": "MONDO:0015626",
            "name": "Charcot-Marie-Tooth-ziekte",
            "genes": 62,
            "inheritance": null,
            "description": "Een groep erfelijke perifere neuropathieën die progressieve zwakte en spierafbraak van de distale spieren en gevoelsverlies veroorzaken, vooral in de voeten en handen.",
            "management": "Erfelijkheidsadvies, subtype-specifieke controles, fysiotherapie, orthesen, vermijden van neurotoxische geneesmiddelen, genspecifieke klinische studies, controle op bijbehorende verschijnselen",
            "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/nl/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Zeldzame erfelijke perifere neuropathieën",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Erfelijke perifere neuropathie",
            "genes": 233,
            "inheritance": null,
            "description": "Veroorzaakt door veranderingen in een van de vele genen die nodig zijn om lange zenuwvezels gezond te houden. In dit rapport gaat het onder meer om IGHMBP2 en PLEKHG5, die recessief zijn.",
            "management": "Fysiotherapie, orthesen en ergotherapie helpen de beweeglijkheid te behouden; bij voetmisvormingen kan een operatie nodig zijn. Sommige vormen vragen om controle van de ademhaling. Erfelijkheidsadvies begeleidt het testen van familieleden volgens het overervingspatroon van het betrokken gen.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "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": 2,
        "url": "https://dantelabs.com/nl/genes/aars1"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/aifm1"
      },
      {
        "slug": "cadm3",
        "symbol": "CADM3",
        "name": "cell adhesion molecule 3",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/cadm3"
      },
      {
        "slug": "cox6a1",
        "symbol": "COX6A1",
        "name": "cytochrome c oxidase subunit 6A1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/cox6a1"
      },
      {
        "slug": "dhtkd1",
        "symbol": "DHTKD1",
        "name": "dehydrogenase E1 and transketolase domain containing 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/dhtkd1"
      },
      {
        "slug": "dhx9",
        "symbol": "DHX9",
        "name": "DExH-box helicase 9",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/dhx9"
      },
      {
        "slug": "dnm2",
        "symbol": "DNM2",
        "name": "dynamin 2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/dnm2"
      },
      {
        "slug": "drp2",
        "symbol": "DRP2",
        "name": "dystrophin related protein 2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/drp2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/dync1h1"
      },
      {
        "slug": "egr2",
        "symbol": "EGR2",
        "name": "early growth response 2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/egr2"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "name": "fibulin 5",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/fbln5"
      },
      {
        "slug": "fgd4",
        "symbol": "FGD4",
        "name": "FYVE, RhoGEF and PH domain containing 4",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/fgd4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}