{
  "url": "https://dantelabs.com/no/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,
          "end": 25897673
        },
        {
          "start": 25905024,
          "end": 25905077
        },
        {
          "start": 25911741,
          "end": 25911962
        },
        {
          "start": 25954590,
          "end": 25954689
        },
        {
          "start": 25955627,
          "end": 25955755
        },
        {
          "start": 25975070,
          "end": 25975228
        },
        {
          "start": 25975954,
          "end": 25976028
        },
        {
          "start": 25982344,
          "end": 25982477
        },
        {
          "start": 25997360,
          "end": 25997416
        },
        {
          "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": "Alzheimers sykdom",
        "diseases": [
          {
            "mondoId": "MONDO:0004975",
            "name": "Alzheimers sykdom",
            "genes": 5,
            "inheritance": null,
            "description": null,
            "management": "Utvidet screening, kognitiv stimulering, optimalisering av hjerte- og karhelse, anti-amyloide terapier (lecanemab), kvalifisering til forebyggende studier",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/alzheimer-disease"
      },
      {
        "slug": "cerebral-amyloid-angiopathy",
        "name": "Cerebral amyloid angiopati",
        "diseases": [
          {
            "mondoId": "MONDO:0005620",
            "name": "Cerebral amyloid angiopati",
            "genes": 3,
            "inheritance": "autosomal-dominant",
            "description": "Arvelig cerebral hemoragi med amyloidose (HCHWA) beskriver en gruppe sjeldne familiære sykdommer i sentralnervesystemet som kjennetegnes av amyloidavleiring i hjernens blodkar. Dette fører til hemoragiske og ikke-hemoragiske slag, fokale nevrologiske utfall og progredierende kognitiv svekkelse som til slutt fører til demens.",
            "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/no/conditions/cerebral-amyloid-angiopathy"
      },
      {
        "slug": "hereditary-amyloidosis-145",
        "name": "Hereditær amyloidose",
        "diseases": [
          {
            "mondoId": "MONDO:0018634",
            "name": "Hereditær amyloidose",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "Hereditær amyloidose er en gruppe arvelige tilstander som utgjør en av undertypene av amyloidose. Hereditær amyloidose kjennetegnes av avleiring av et unormalt protein kalt amyloid i flere organer i kroppen, der det ikke skal være, og dette fører til forstyrrelser i vevsstrukturen og organfunksjonen. Ved hereditær amyloidose forekommer amyloidavleiringene oftest i vev i hjertet, nyrene og nervesystemet. Selv om symptomer på hereditær amyloidose kan vise seg i barndommen, har de fleste ikke symptomer før i voksen alder.\n\nDet finnes mange typer hereditær amyloidose, knyttet til ulike genmutasjoner og unormale proteiner. Den vanligste typen er transthyretin-amyloidose (ATTR), en tilstand der amyloidavleiringene oftest består av proteinet transthyretin, som dannes i leveren. Andre eksempler på hereditær amyloidose omfatter, men er ikke begrenset til, apolipoprotein AI-amyloidose (A ApoAI), gelsolin-amyloidose (A Gel), lysozym-amyloidose (A Lys), cystatin C-amyloidose (A Cys), fibrinogen Aα-kjede-amyloidose (A Fib) og apolipoprotein AII-amyloidose (A ApoAII).",
            "management": "Tafamidis (kinetisk stabilisator), patisiran (RNAi), vutrisiran (RNAi), inotersen (antisens), levertransplantasjon",
            "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/no/conditions/hereditary-amyloidosis-145"
      }
    ],
    "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": "cst3",
        "symbol": "CST3",
        "name": "cystatin C",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/cst3"
      },
      {
        "slug": "itm2b",
        "symbol": "ITM2B",
        "name": "integral membrane protein 2B",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/itm2b"
      },
      {
        "slug": "apoa1",
        "symbol": "APOA1",
        "name": "apolipoprotein A1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/apoa1"
      },
      {
        "slug": "apoa4",
        "symbol": "APOA4",
        "name": "apolipoprotein A4",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/apoa4"
      },
      {
        "slug": "apoe",
        "symbol": "APOE",
        "name": "apolipoprotein E",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/apoe"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/b2m"
      },
      {
        "slug": "fga",
        "symbol": "FGA",
        "name": "fibrinogen alpha chain",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/fga"
      },
      {
        "slug": "gpnmb",
        "symbol": "GPNMB",
        "name": "glycoprotein nmb",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gpnmb"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "name": "gelsolin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gsn"
      },
      {
        "slug": "lyz",
        "symbol": "LYZ",
        "name": "lysozyme",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/lyz"
      },
      {
        "slug": "osmr",
        "symbol": "OSMR",
        "name": "oncostatin M receptor",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/osmr"
      },
      {
        "slug": "psen1",
        "symbol": "PSEN1",
        "name": "presenilin 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/psen1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}