{
  "url": "https://dantelabs.com/fi/genes/app",
  "gene": {
    "slug": "app",
    "symbol": "APP",
    "name": "amyloid beta precursor protein",
    "hgnc": "HGNC:620",
    "summary": null,
    "location": "21q21.3",
    "locusType": "gene with protein product",
    "aliases": [
      "alpha-sAPP"
    ],
    "previousSymbols": [
      "AD1"
    ],
    "ensemblId": "ENSG00000142192",
    "entrezId": 351,
    "omim": [
      "104760"
    ],
    "uniprot": [
      "P05067"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "21",
      "start": 25880550,
      "end": 26170770,
      "strand": "-",
      "ensemblTranscript": "ENST00000346798.8",
      "refseqTranscript": "NM_000484.4",
      "ensemblProtein": "ENSP00000284981.4",
      "refseqProtein": "NP_000475.1",
      "exons": [
        {
          "start": 25880550,
          "end": 25881771
        },
        {
          "start": 25891722,
          "end": 25891868
        },
        {
          "start": 25897573,
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        },
        {
          "start": 25905024,
          "end": 25905077
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        {
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        },
        {
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        {
          "start": 25955627,
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        },
        {
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        },
        {
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        },
        {
          "start": 25982344,
          "end": 25982477
        },
        {
          "start": 25997360,
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        },
        {
          "start": 26000015,
          "end": 26000182
        },
        {
          "start": 26021840,
          "end": 26022042
        },
        {
          "start": 26051000,
          "end": 26051193
        },
        {
          "start": 26053236,
          "end": 26053348
        },
        {
          "start": 26089943,
          "end": 26090072
        },
        {
          "start": 26111979,
          "end": 26112146
        },
        {
          "start": 26170564,
          "end": 26170770
        }
      ],
      "cds": {
        "start": 25881670,
        "end": 26170620
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "21",
      "start": 27252861,
      "end": 27543446,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 25525660,
      "end": 26525659,
      "genes": [
        {
          "symbol": "MRPL39",
          "ensemblId": "ENSG00000154719",
          "biotype": "protein_coding",
          "start": 25572145,
          "end": 25607588,
          "strand": "-",
          "slug": "mrpl39"
        },
        {
          "symbol": "JAM2",
          "ensemblId": "ENSG00000154721",
          "biotype": "protein_coding",
          "start": 25639258,
          "end": 25717783,
          "strand": "+",
          "slug": "jam2"
        },
        {
          "symbol": "ATP5PF",
          "ensemblId": "ENSG00000154723",
          "biotype": "protein_coding",
          "start": 25693623,
          "end": 25735721,
          "strand": "-",
          "slug": "atp5pf"
        },
        {
          "symbol": "GABPA",
          "ensemblId": "ENSG00000154727",
          "biotype": "protein_coding",
          "start": 25734570,
          "end": 25772460,
          "strand": "+",
          "slug": "gabpa"
        },
        {
          "symbol": "CYYR1",
          "ensemblId": "ENSG00000166265",
          "biotype": "protein_coding",
          "start": 26466209,
          "end": 26573314,
          "strand": "-",
          "slug": "cyyr1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "alzheimer-disease",
        "name": "Alzheimerin tauti",
        "diseases": [
          {
            "mondoId": "MONDO:0004975",
            "name": "Alzheimerin tauti",
            "genes": 5,
            "inheritance": null,
            "description": null,
            "management": "Tehostettu seulonta, kognitiivinen aktiivisuus, sydän- ja verisuoniterveyden optimointi, amyloidia vastaan kohdistuvat hoidot (lekanemabi), osallistumiskelpoisuus ennaltaehkäisytutkimuksiin",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/alzheimer-disease"
      },
      {
        "slug": "cerebral-amyloid-angiopathy",
        "name": "Aivojen amyloidiangiopatia",
        "diseases": [
          {
            "mondoId": "MONDO:0005620",
            "name": "Aivojen amyloidiangiopatia",
            "genes": 3,
            "inheritance": "autosomal-dominant",
            "description": "Perinnöllinen aivoverenvuoto amyloidoosin vuoksi (HCHWA) on joukko harvinaisia suvussa esiintyviä keskushermoston sairauksia, joille on ominaista amyloidin kertyminen aivojen verisuoniin. Tämä johtaa verenvuotoon tai ei-verenvuotoon liittyviin aivoinfarkteihin, paikallisiin neurologisiin oireisiin sekä etenevään kognitiiviseen heikkenemiseen, joka lopulta johtaa dementiaan.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/cerebral-amyloid-angiopathy"
      },
      {
        "slug": "hereditary-amyloidosis-145",
        "name": "Perinnöllinen amyloidoosi",
        "diseases": [
          {
            "mondoId": "MONDO:0018634",
            "name": "Perinnöllinen amyloidoosi",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "Perinnöllinen amyloidoosi tarkoittaa joukkoa periytyviä sairauksia, jotka muodostavat yhden amyloidoosin alatyypin. Perinnöllisessä amyloidoosissa elimistön useisiin elimiin kertyy epänormaalia amyloidi-nimistä proteiinia sinne, missä sitä ei pitäisi olla. Tämä häiritsee elinkudosten rakennetta ja toimintaa. Perinnöllisessä amyloidoosissa amyloidikertymiä esiintyy useimmin sydämen, munuaisten ja hermoston kudoksissa. Perinnöllisen amyloidoosin oireet voivat alkaa jo lapsuudessa, mutta useimmilla ihmisillä oireita ei ilmene ennen aikuisikää.\n\nPerinnöllisiä amyloidoosimuotoja on monia, ja ne liittyvät eri geenimutaatioihin ja epänormaaleihin proteiineihin. Yleisin perinnöllisen amyloidoosin muoto on transtyretiiniamyloidoosi (ATTR). Siinä amyloidikertymät koostuvat useimmiten maksassa muodostuvasta transtyretiiniproteiinista. Muita perinnöllisen amyloidoosin esimerkkejä ovat muun muassa apolipoproteiini AI -amyloidoosi (A ApoAI), gelsoliiniamyloidoosi (A Gel), lysotsyymiamyloidoosi (A Lys), kystatiini C -amyloidoosi (A Cys), fibrinogeenin Aα-ketjun amyloidoosi (A Fib) ja apolipoproteiini AII -amyloidoosi (A ApoAII).",
            "management": "Tafamidis (kineettinen stabilisaattori), patisiraani (RNAi), vutisiraani (RNAi), inotersen (antisense), maksansiirto",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/hereditary-amyloidosis-145"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Perinnölliset neurodegeneratiiviset sairaudet",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "KIF5A-geenin aiheuttama neurodegeneratiivinen sairaus",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Aiheutuu muutoksesta yhdessä KIF5A-geenin kopiossa. Geeni koodaa motorista proteiinia, jolla on rakenteeseen sitoutuva häntäosa. Eri tyyppiset muutokset johtavat eri sairauksiin: perinnölliseen spastiseen parapleginen tyyppiin 10, Charcot-Marie-Toothin taudin aksonaaliseen muotoon ja amyotrofiseen lateraaliskleroosiin (ALS).",
            "management": "Hoito on oireenmukaista ja riippuu oireista. Siihen kuuluvat fysioterapia, spastisuuden lääkitys ja moniammatillinen ALS-hoito. Sairastuneen jokaisella lapsella on 1/2 todennäköisyys periä muutos. Perinnöllisyysneuvonta auttaa perheitä ymmärtämään tätä.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/inherited-neurodegenerative-disorders-selected-genes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-social-behavior",
        "name": "Abnormal social behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-social-behavior"
      },
      {
        "slug": "abnormality-of-mental-function",
        "name": "Abnormality of mental function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-mental-function"
      },
      {
        "slug": "abnormal-cerebral-vascular-morphology",
        "name": "Abnormality of the cerebral blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-vascular-morphology"
      },
      {
        "slug": "abnormality-of-vision",
        "name": "Abnormality of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-vision"
      },
      {
        "slug": "agitation",
        "name": "Agitation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/agitation"
      },
      {
        "slug": "alzheimer-disease",
        "name": "Alzheimer disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/alzheimer-disease"
      },
      {
        "slug": "apraxia",
        "name": "Apraxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apraxia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "cerebral-hemorrhage",
        "name": "Bleeding in brain",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebral-hemorrhage"
      },
      {
        "slug": "cerebellar-hemorrhage",
        "name": "Cerebellar hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-hemorrhage"
      },
      {
        "slug": "cerebral-amyloid-angiopathy",
        "name": "Cerebral amyloid angiopathy",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-amyloid-angiopathy"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "confusion",
        "name": "Confusion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/confusion"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "decreased-circulating-gaba-concentration",
        "name": "Decreased circulating GABA concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-gaba-concentration"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "deposits-immunoreactive-to-beta-amyloid-protein",
        "name": "Deposits immunoreactive to beta-amyloid protein",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/deposits-immunoreactive-to-beta-amyloid-protein"
      },
      {
        "slug": "aphasia",
        "name": "Difficulty finding words",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aphasia"
      },
      {
        "slug": "disinhibition",
        "name": "Disinhibition",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/disinhibition"
      },
      {
        "slug": "cerebral-ischemia",
        "name": "Disruption of blood oxygen supply to brain",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-ischemia"
      },
      {
        "slug": "dysgraphia",
        "name": "Dysgraphia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysgraphia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years",
        "name": "Febrile seizure (within the age range of 3 months to 6 years)",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
      },
      {
        "slug": "finger-agnosia",
        "name": "Finger agnosia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/finger-agnosia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "language-impairment",
        "name": "Language impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/language-impairment"
      },
      {
        "slug": "long-tract-sign",
        "name": "Long-tract sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/long-tract-sign"
      },
      {
        "slug": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "migraine",
        "name": "Migraine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/migraine"
      },
      {
        "slug": "neurodevelopmental-abnormality",
        "name": "Neurodevelopmental abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-abnormality"
      },
      {
        "slug": "neurofibrillary-tangles",
        "name": "Neurofibrillary tangles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neurofibrillary-tangles"
      },
      {
        "slug": "oculomotor-apraxia",
        "name": "Oculomotor apraxia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oculomotor-apraxia"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "paresthesia",
        "name": "Pins and needles feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/paresthesia"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "recurrent-cerebral-hemorrhage",
        "name": "Recurrent cerebral hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-cerebral-hemorrhage"
      },
      {
        "slug": "somatic-sensory-dysfunction",
        "name": "Somatic sensory dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "subarachnoid-hemorrhage",
        "name": "Subarachnoid hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage"
      },
      {
        "slug": "semantic-dementia",
        "name": "Trouble remembering words",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/semantic-dementia"
      },
      {
        "slug": "tortuous-cerebral-arteries",
        "name": "Twisted cerebral arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tortuous-cerebral-arteries"
      }
    ],
    "related": [
      {
        "slug": "itm2b",
        "symbol": "ITM2B",
        "name": "integral membrane protein 2B",
        "shared": 3,
        "url": "https://dantelabs.com/fi/genes/itm2b"
      },
      {
        "slug": "apoe",
        "symbol": "APOE",
        "name": "apolipoprotein E",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/apoe"
      },
      {
        "slug": "cst3",
        "symbol": "CST3",
        "name": "cystatin C",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/cst3"
      },
      {
        "slug": "psen1",
        "symbol": "PSEN1",
        "name": "presenilin 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/psen1"
      },
      {
        "slug": "psen2",
        "symbol": "PSEN2",
        "name": "presenilin 2",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/psen2"
      },
      {
        "slug": "trem2",
        "symbol": "TREM2",
        "name": "triggering receptor expressed on myeloid cells 2",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/trem2"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aars2"
      },
      {
        "slug": "abcb7",
        "symbol": "ABCB7",
        "name": "ATP binding cassette subfamily B member 7",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/abcb7"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/abcd1"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/abhd16a"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/acer3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}