{
  "url": "https://dantelabs.com/pl/genes/acp5",
  "gene": {
    "slug": "acp5",
    "symbol": "ACP5",
    "name": "acid phosphatase 5, tartrate resistant",
    "hgnc": "HGNC:124",
    "summary": null,
    "location": "19p13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "TRAP",
      "HPAP",
      "TRAcP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000102575",
    "entrezId": 54,
    "omim": [
      "171640"
    ],
    "uniprot": [
      "P13686"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "19",
      "start": 11574660,
      "end": 11577645,
      "strand": "-",
      "ensemblTranscript": "ENST00000648477.1",
      "refseqTranscript": "NM_001611.5",
      "ensemblProtein": "ENSP00000496973.1",
      "refseqProtein": "NP_001602.1",
      "exons": [
        {
          "start": 11574660,
          "end": 11575252
        },
        {
          "start": 11576243,
          "end": 11576588
        },
        {
          "start": 11576716,
          "end": 11576843
        },
        {
          "start": 11577057,
          "end": 11577317
        },
        {
          "start": 11577593,
          "end": 11577645
        }
      ],
      "cds": {
        "start": 11575010,
        "end": 11577317
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "19",
      "start": 11685475,
      "end": 11689823,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 11076153,
      "end": 12076152,
      "genes": [
        {
          "symbol": "SMARCA4",
          "ensemblId": "ENSG00000127616",
          "biotype": "protein_coding",
          "start": 10960824,
          "end": 11079426,
          "strand": "+",
          "slug": "smarca4"
        },
        {
          "symbol": "LDLR",
          "ensemblId": "ENSG00000130164",
          "biotype": "protein_coding",
          "start": 11089418,
          "end": 11133830,
          "strand": "+",
          "slug": "ldlr"
        },
        {
          "symbol": "SPC24",
          "ensemblId": "ENSG00000161888",
          "biotype": "protein_coding",
          "start": 11131419,
          "end": 11155815,
          "strand": "-",
          "slug": "spc24"
        },
        {
          "symbol": "KANK2",
          "ensemblId": "ENSG00000197256",
          "biotype": "protein_coding",
          "start": 11164264,
          "end": 11197945,
          "strand": "-",
          "slug": "kank2"
        },
        {
          "symbol": "DOCK6",
          "ensemblId": "ENSG00000130158",
          "biotype": "protein_coding",
          "start": 11199295,
          "end": 11262533,
          "strand": "-",
          "slug": "dock6"
        },
        {
          "symbol": "ANGPTL8",
          "ensemblId": "ENSG00000130173",
          "biotype": "protein_coding",
          "start": 11237502,
          "end": 11245478,
          "strand": "+",
          "slug": "angptl8"
        },
        {
          "symbol": "TSPAN16",
          "ensemblId": "ENSG00000130167",
          "biotype": "protein_coding",
          "start": 11296139,
          "end": 11326996,
          "strand": "+",
          "slug": "tspan16"
        },
        {
          "symbol": "RAB3D",
          "ensemblId": "ENSG00000105514",
          "biotype": "protein_coding",
          "start": 11322047,
          "end": 11346433,
          "strand": "-",
          "slug": "rab3d"
        },
        {
          "symbol": "TMEM205",
          "ensemblId": "ENSG00000105518",
          "biotype": "protein_coding",
          "start": 11342775,
          "end": 11346534,
          "strand": "-",
          "slug": "tmem205"
        },
        {
          "symbol": "CCDC159",
          "ensemblId": "ENSG00000183401",
          "biotype": "protein_coding",
          "start": 11344684,
          "end": 11354948,
          "strand": "+",
          "slug": "ccdc159"
        },
        {
          "symbol": "PLPPR2",
          "ensemblId": "ENSG00000105520",
          "biotype": "protein_coding",
          "start": 11355386,
          "end": 11365698,
          "strand": "+",
          "slug": "plppr2"
        },
        {
          "symbol": "SWSAP1",
          "ensemblId": "ENSG00000173928",
          "biotype": "protein_coding",
          "start": 11374658,
          "end": 11379194,
          "strand": "+",
          "slug": "swsap1"
        },
        {
          "symbol": "EPOR",
          "ensemblId": "ENSG00000187266",
          "biotype": "protein_coding",
          "start": 11377207,
          "end": 11384343,
          "strand": "-",
          "slug": "epor"
        },
        {
          "symbol": "RGL3",
          "ensemblId": "ENSG00000205517",
          "biotype": "protein_coding",
          "start": 11384341,
          "end": 11419372,
          "strand": "-",
          "slug": "rgl3"
        },
        {
          "symbol": "ODAD3",
          "ensemblId": "ENSG00000198003",
          "biotype": "protein_coding",
          "start": 11420604,
          "end": 11435782,
          "strand": "-",
          "slug": "odad3"
        },
        {
          "symbol": "PRKCSH",
          "ensemblId": "ENSG00000130175",
          "biotype": "protein_coding",
          "start": 11422369,
          "end": 11450969,
          "strand": "+",
          "slug": "prkcsh"
        },
        {
          "symbol": "ELAVL3",
          "ensemblId": "ENSG00000196361",
          "biotype": "protein_coding",
          "start": 11451326,
          "end": 11481051,
          "strand": "-",
          "slug": "elavl3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000267477",
          "biotype": "protein_coding",
          "start": 11466240,
          "end": 11505698,
          "strand": "-"
        },
        {
          "symbol": "ZNF653",
          "ensemblId": "ENSG00000161914",
          "biotype": "protein_coding",
          "start": 11483134,
          "end": 11505839,
          "strand": "-",
          "slug": "znf653"
        },
        {
          "symbol": "ECSIT",
          "ensemblId": "ENSG00000130159",
          "biotype": "protein_coding",
          "start": 11505916,
          "end": 11540137,
          "strand": "-",
          "slug": "ecsit"
        },
        {
          "symbol": "CNN1",
          "ensemblId": "ENSG00000130176",
          "biotype": "protein_coding",
          "start": 11538767,
          "end": 11550323,
          "strand": "+",
          "slug": "cnn1"
        },
        {
          "symbol": "ELOF1",
          "ensemblId": "ENSG00000130165",
          "biotype": "protein_coding",
          "start": 11551147,
          "end": 11559325,
          "strand": "-",
          "slug": "elof1"
        },
        {
          "symbol": "ZNF627",
          "ensemblId": "ENSG00000198551",
          "biotype": "protein_coding",
          "start": 11559374,
          "end": 11622582,
          "strand": "+",
          "slug": "znf627"
        },
        {
          "symbol": "ZNF823",
          "ensemblId": "ENSG00000197933",
          "biotype": "protein_coding",
          "start": 11721263,
          "end": 11739027,
          "strand": "-",
          "slug": "znf823"
        },
        {
          "symbol": "ZNF441",
          "ensemblId": "ENSG00000197044",
          "biotype": "protein_coding",
          "start": 11767000,
          "end": 11784078,
          "strand": "+",
          "slug": "znf441"
        },
        {
          "symbol": "ZNF491",
          "ensemblId": "ENSG00000177599",
          "biotype": "protein_coding",
          "start": 11797642,
          "end": 11809622,
          "strand": "+",
          "slug": "znf491"
        },
        {
          "symbol": "ZNF440",
          "ensemblId": "ENSG00000171295",
          "biotype": "protein_coding",
          "start": 11814257,
          "end": 11835567,
          "strand": "+",
          "slug": "znf440"
        },
        {
          "symbol": "ZNF439",
          "ensemblId": "ENSG00000171291",
          "biotype": "protein_coding",
          "start": 11848716,
          "end": 11883750,
          "strand": "+",
          "slug": "znf439"
        },
        {
          "symbol": "ZNF69",
          "ensemblId": "ENSG00000198429",
          "biotype": "protein_coding",
          "start": 11887759,
          "end": 11919844,
          "strand": "+",
          "slug": "znf69"
        },
        {
          "symbol": "ZNF700",
          "ensemblId": "ENSG00000196757",
          "biotype": "protein_coding",
          "start": 11925064,
          "end": 11950774,
          "strand": "+",
          "slug": "znf700"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000267179",
          "biotype": "protein_coding",
          "start": 11925075,
          "end": 11979290,
          "strand": "+"
        },
        {
          "symbol": "ZNF763",
          "ensemblId": "ENSG00000197054",
          "biotype": "protein_coding",
          "start": 11965030,
          "end": 11983128,
          "strand": "+",
          "slug": "znf763"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000286098",
          "biotype": "protein_coding",
          "start": 11987641,
          "end": 12078106,
          "strand": "+"
        },
        {
          "symbol": "ZNF433",
          "ensemblId": "ENSG00000197647",
          "biotype": "protein_coding",
          "start": 11988498,
          "end": 12035741,
          "strand": "-",
          "slug": "znf433"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000257355",
          "biotype": "protein_coding",
          "start": 12017888,
          "end": 12052967,
          "strand": "-"
        },
        {
          "symbol": "ZNF878",
          "ensemblId": "ENSG00000257446",
          "biotype": "protein_coding",
          "start": 12040992,
          "end": 12052983,
          "strand": "-",
          "slug": "znf878"
        },
        {
          "symbol": "ZNF844",
          "ensemblId": "ENSG00000223547",
          "biotype": "protein_coding",
          "start": 12064690,
          "end": 12081565,
          "strand": "+",
          "slug": "znf844"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000286132",
          "biotype": "protein_coding",
          "start": 12075327,
          "end": 12113325,
          "strand": "+"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-monogenic-autoinflammatory-diseases",
        "name": "Rzadkie jednogenowe choroby autozapalne",
        "diseases": [
          {
            "mondoId": "MONDO:0957018",
            "name": "Autozapalenie i autoimmunizacja związane z PTPN2",
            "genes": 22,
            "inheritance": "autosomal-dominant",
            "description": "Wczesna choroba zapalna i autoimmunologiczna, w tym zapalenie okrężnicy i zapalenie stawów, spowodowana wariantami w genie PTPN2.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/rare-monogenic-autoinflammatory-diseases"
      },
      {
        "slug": "type-1-interferonopathies",
        "name": "Interferonopatie typu I",
        "diseases": [
          {
            "mondoId": "MONDO:0011939",
            "name": "Spondyloenchondrodysplazja z dysregulacją odpornościową",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Dysplazja szkieletowa z chorobami autoimmunologicznymi, takimi jak toczeń lub niska liczba płytek krwi, spowodowana wariantami ACP5.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/type-1-interferonopathies"
      }
    ],
    "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": "abnormal-lateral-ventricle-morphology",
        "name": "Abnormal lateral ventricle morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-lateral-ventricle-morphology"
      },
      {
        "slug": "abnormal-periventricular-white-matter-morphology",
        "name": "Abnormal periventricular white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-periventricular-white-matter-morphology"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      },
      {
        "slug": "anti-dsdna-antibody-positivity",
        "name": "Anti-dsDNA antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-dsdna-antibody-positivity"
      },
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "autoimmune-hemolytic-anemia",
        "name": "Autoimmune hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autoimmune-hemolytic-anemia"
      },
      {
        "slug": "autoimmune-thrombocytopenia",
        "name": "Autoimmune thrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmune-thrombocytopenia"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "barrel-shaped-chest",
        "name": "Barrel-shaped chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/barrel-shaped-chest"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "purpura",
        "name": "Blood spots",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/purpura"
      },
      {
        "slug": "vitiligo",
        "name": "Blotchy loss of skin color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/vitiligo"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bowing-of-the-legs"
      },
      {
        "slug": "brain-imaging-abnormality",
        "name": "Brain imaging abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brain-imaging-abnormality"
      },
      {
        "slug": "metaphyseal-widening",
        "name": "Broad wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-widening"
      },
      {
        "slug": "cellular-immunodeficiency",
        "name": "Cellular immunodeficiency",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/cellular-immunodeficiency"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "combined-immunodeficiency",
        "name": "Combined immunodeficiency",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/combined-immunodeficiency"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "decreased-response-to-growth-hormone-stimulation-test",
        "name": "Decreased response to growth hormone stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "sclerosis-of-skull-base",
        "name": "Dense bone of skull base",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sclerosis-of-skull-base"
      },
      {
        "slug": "disproportionate-short-trunk-short-stature",
        "name": "Disproportionate short-trunked short stature",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/disproportionate-short-trunk-short-stature"
      },
      {
        "slug": "enchondroma",
        "name": "Enchondroma",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enchondroma"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "lumbar-hyperlordosis",
        "name": "Excessive inward curvature of lower spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lumbar-hyperlordosis"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "granuloma",
        "name": "Granuloma",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/granuloma"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "hypermelanotic-macule",
        "name": "Hyperpigmented skin patches",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hypermelanotic-macule"
      },
      {
        "slug": "immune-dysregulation",
        "name": "Immune dysregulation",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/immune-dysregulation"
      },
      {
        "slug": "metaphyseal-sclerosis",
        "name": "Increased bone density in wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-sclerosis"
      },
      {
        "slug": "increased-intervertebral-space",
        "name": "Increased intervertebral space",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-intervertebral-space"
      },
      {
        "slug": "vasculitis",
        "name": "Inflammation of blood vessel",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vasculitis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "irregular-vertebral-endplates",
        "name": "Irregular vertebral endplates",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-vertebral-endplates"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "joint-swelling",
        "name": "Joint swelling",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-swelling"
      },
      {
        "slug": "juvenile-idiopathic-arthritis",
        "name": "Juvenile idiopathic arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/juvenile-idiopathic-arthritis"
      },
      {
        "slug": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "limb-undergrowth",
        "name": "Limb undergrowth",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limb-undergrowth"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "decreased-total-t-cell-count",
        "name": "Low T cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-total-t-cell-count"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "lower-limb-pain",
        "name": "Lower limb pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-limb-pain"
      },
      {
        "slug": "metaphyseal-dysplasia",
        "name": "Metaphyseal dysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metaphyseal-dysplasia"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "narrow-nose",
        "name": "Narrow nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/narrow-nose"
      },
      {
        "slug": "hypopigmented-skin-patches-on-arms",
        "name": "Patchy loss of skin color on arms",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hypopigmented-skin-patches-on-arms"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "progressive-spastic-quadriplegia",
        "name": "Progressive spastic quadriplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-spastic-quadriplegia"
      },
      {
        "slug": "raynaud-phenomenon",
        "name": "Raynaud phenomenon",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/raynaud-phenomenon"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-sinusitis",
        "name": "Recurrent sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-sinusitis"
      },
      {
        "slug": "rheumatoid-arthritis",
        "name": "Rheumatoid arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/rheumatoid-arthritis"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-distal-phalanx-of-finger",
        "name": "Short outermost finger bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-distal-phalanx-of-finger"
      },
      {
        "slug": "short-iliac-bones",
        "name": "Short pelvis bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-iliac-bones"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "hypoplastic-ilia",
        "name": "Small wings of the pelvic girdle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplastic-ilia"
      },
      {
        "slug": "spastic-diplegia",
        "name": "Spastic diplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-diplegia"
      },
      {
        "slug": "spondylometaphyseal-dysplasia",
        "name": "Spondylometaphyseal dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/spondylometaphyseal-dysplasia"
      },
      {
        "slug": "restrictive-ventilatory-defect",
        "name": "Stiff lung or chest wall causing decreased lung volume",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "systemic-lupus-erythematosus",
        "name": "Systemic lupus erythematosus",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/systemic-lupus-erythematosus"
      },
      {
        "slug": "turricephaly",
        "name": "Tall shaped head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/turricephaly"
      },
      {
        "slug": "tubulointerstitial-fibrosis",
        "name": "Tubulointerstitial fibrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/tubulointerstitial-fibrosis"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [
      {
        "slug": "ada2",
        "symbol": "ADA2",
        "name": "adenosine deaminase 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ada2"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/adar"
      },
      {
        "slug": "copa",
        "symbol": "COPA",
        "name": "coat protein complex I subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/copa"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "name": "interferon induced with helicase C domain 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ifih1"
      },
      {
        "slug": "pola1",
        "symbol": "POLA1",
        "name": "DNA polymerase alpha 1, catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/pola1"
      },
      {
        "slug": "pomp",
        "symbol": "POMP",
        "name": "proteasome maturation protein",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/pomp"
      },
      {
        "slug": "psmb10",
        "symbol": "PSMB10",
        "name": "proteasome 20S subunit beta 10",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/psmb10"
      },
      {
        "slug": "psmb8",
        "symbol": "PSMB8",
        "name": "proteasome 20S subunit beta 8",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/psmb8"
      },
      {
        "slug": "psmb9",
        "symbol": "PSMB9",
        "name": "proteasome 20S subunit beta 9",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/psmb9"
      },
      {
        "slug": "ptpn2",
        "symbol": "PTPN2",
        "name": "protein tyrosine phosphatase non-receptor type 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ptpn2"
      },
      {
        "slug": "rigi",
        "symbol": "RIGI",
        "name": "RNA sensor RIG-I",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/rigi"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "name": "ribonuclease H2 subunit A",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/rnaseh2a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}