{
  "url": "https://dantelabs.com/nl/genes/nek8",
  "gene": {
    "slug": "nek8",
    "symbol": "NEK8",
    "name": "NIMA related kinase 8",
    "hgnc": "HGNC:13387",
    "summary": null,
    "location": "17q11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "NPHP9"
    ],
    "previousSymbols": [],
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      "609799"
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      "Q86SG6"
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      "strand": "+",
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      "ensemblProtein": "ENSP00000268766.6",
      "refseqProtein": "NP_835464.1",
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        {
          "symbol": "TMEM97",
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          "symbol": "IFT20",
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        {
          "symbol": "TNFAIP1",
          "ensemblId": "ENSG00000109079",
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        {
          "symbol": "POLDIP2",
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        {
          "symbol": "VMA12",
          "ensemblId": "ENSG00000244045",
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          "end": 28363683,
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        {
          "symbol": "SEBOX",
          "ensemblId": "ENSG00000274529",
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        {
          "symbol": "",
          "ensemblId": "ENSG00000273171",
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        {
          "symbol": "SARM1",
          "ensemblId": "ENSG00000004139",
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        {
          "symbol": "VTN",
          "ensemblId": "ENSG00000109072",
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        {
          "symbol": "SLC46A1",
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        {
          "symbol": "RSKR",
          "ensemblId": "ENSG00000167524",
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        {
          "symbol": "SLC13A2",
          "ensemblId": "ENSG00000007216",
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          "strand": "+",
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        },
        {
          "symbol": "FOXN1",
          "ensemblId": "ENSG00000109101",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "foxn1"
        },
        {
          "symbol": "UNC119",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "PIGS",
          "ensemblId": "ENSG00000087111",
          "biotype": "protein_coding",
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          "slug": "pigs"
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        {
          "symbol": "ALDOC",
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        {
          "symbol": "SPAG5",
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        {
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        {
          "symbol": "BLTP2",
          "ensemblId": "ENSG00000007202",
          "biotype": "protein_coding",
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        {
          "symbol": "SDF2",
          "ensemblId": "ENSG00000132581",
          "biotype": "protein_coding",
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        {
          "symbol": "SUPT6H",
          "ensemblId": "ENSG00000109111",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "supt6h"
        },
        {
          "symbol": "PROCA1",
          "ensemblId": "ENSG00000167525",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "proca1"
        },
        {
          "symbol": "RAB34",
          "ensemblId": "ENSG00000109113",
          "biotype": "protein_coding",
          "start": 28713545,
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          "strand": "-",
          "slug": "rab34"
        },
        {
          "symbol": "RPL23A",
          "ensemblId": "ENSG00000198242",
          "biotype": "protein_coding",
          "start": 28719940,
          "end": 28724365,
          "strand": "+",
          "slug": "rpl23a"
        },
        {
          "symbol": "TLCD1",
          "ensemblId": "ENSG00000160606",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "tlcd1"
        },
        {
          "symbol": "TRAF4",
          "ensemblId": "ENSG00000076604",
          "biotype": "protein_coding",
          "start": 28743978,
          "end": 28772894,
          "strand": "+",
          "slug": "traf4"
        },
        {
          "symbol": "FAM222B",
          "ensemblId": "ENSG00000173065",
          "biotype": "protein_coding",
          "start": 28755966,
          "end": 28855232,
          "strand": "-",
          "slug": "fam222b"
        },
        {
          "symbol": "ERAL1",
          "ensemblId": "ENSG00000132591",
          "biotype": "protein_coding",
          "start": 28854983,
          "end": 28861067,
          "strand": "+",
          "slug": "eral1"
        },
        {
          "symbol": "FLOT2",
          "ensemblId": "ENSG00000132589",
          "biotype": "protein_coding",
          "start": 28879335,
          "end": 28897741,
          "strand": "-",
          "slug": "flot2"
        },
        {
          "symbol": "DHRS13",
          "ensemblId": "ENSG00000167536",
          "biotype": "protein_coding",
          "start": 28897781,
          "end": 28903087,
          "strand": "-",
          "slug": "dhrs13"
        },
        {
          "symbol": "PHF12",
          "ensemblId": "ENSG00000109118",
          "biotype": "protein_coding",
          "start": 28905247,
          "end": 28951771,
          "strand": "-",
          "slug": "phf12"
        },
        {
          "symbol": "PIPOX",
          "ensemblId": "ENSG00000179761",
          "biotype": "protein_coding",
          "start": 28950513,
          "end": 29057583,
          "strand": "+",
          "slug": "pipox"
        },
        {
          "symbol": "SEZ6",
          "ensemblId": "ENSG00000063015",
          "biotype": "protein_coding",
          "start": 28954901,
          "end": 29006440,
          "strand": "-",
          "slug": "sez6"
        },
        {
          "symbol": "MYO18A",
          "ensemblId": "ENSG00000196535",
          "biotype": "protein_coding",
          "start": 29071119,
          "end": 29180457,
          "strand": "-",
          "slug": "myo18a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "nephronophthisis-senior-loken-syndrome",
        "name": "Nefronoftisis en het Senior-Løken-syndroom",
        "diseases": [
          {
            "mondoId": "MONDO:0019005",
            "name": "Nefronoftisis",
            "genes": 17,
            "inheritance": "autosomal-recessive",
            "description": "Een recessief overgeerfelijke nierziekte, veroorzaakt door varianten in NPHP1 en andere cilia-genen, waarbij progressieve tubulointerstitiële littekenvorming leidt tot nierfalen, meestal in de eerste drie decennia van het leven.",
            "management": "Door dit te weten kunt u de nierfunctie regelmatig laten controleren, tijdig dialyse of transplantatie plannen en familieleden laten testen op dragerschap.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/nephronophthisis-senior-loken-syndrome"
      },
      {
        "slug": "polycystic-kidney-disease",
        "name": "Polycystische nieraandoening",
        "diseases": [
          {
            "mondoId": "MONDO:0020642",
            "name": "Polycystische nieraandoening",
            "genes": 11,
            "inheritance": null,
            "description": "Een meestal autosomaal dominant, en minder vaak autosomaal recessief overervende erfelijke aandoening die wordt gekenmerkt door talrijke cysten in de nieren, die kan leiden tot nierfalen in het eindstadium. De autosomaal dominante vorm wordt geassocieerd met afwijkingen op de korte arm van chromosoom 16. Klachten bij patiënten met de autosomaal dominante vorm ontstaan meestal op middelbare leeftijd en omvatten buikpijn, bloed in de urine en hoge bloeddruk. Patiënten kunnen hersenaneurysma's en levercysten ontwikkelen. Patiënten met de autosomaal recessieve vorm krijgen al vroeg in het leven progressief nierfalen en klachten door leverfibrose. De autosomaal recessieve vorm wordt geassocieerd met afwijkingen van chromosoom 6. Een polycystische nieraandoening kan ook ontstaan als bijwerking bij patiënten die worden gedialyseerd.",
            "management": "Tolvaptan (Jynarque, FDA 2018) bij snel voortschrijdende ADPKD; bloeddrukregulatie (streefwaarde <110/75); pijnbehandeling; behandeling van geïnfecteerde cysten; MRA-hersenonderzoek op intracraniële aneurysma's; niertransplantatie bij ESRD",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Strong",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/polycystic-kidney-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-liver-parenchyma-morphology",
        "name": "Abnormal liver parenchyma morphology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-liver-parenchyma-morphology"
      },
      {
        "slug": "abnormal-lung-lobation",
        "name": "Abnormal lung lobation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-lung-lobation"
      },
      {
        "slug": "abnormal-pancreatic-duct-morphology",
        "name": "Abnormal pancreatic duct morphology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pancreatic-duct-morphology"
      },
      {
        "slug": "abnormal-systemic-arterial-morphology",
        "name": "Abnormal systemic arterial morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-systemic-arterial-morphology"
      },
      {
        "slug": "abnormal-urinary-electrolyte-concentration",
        "name": "Abnormal urinary electrolyte concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-urinary-electrolyte-concentration"
      },
      {
        "slug": "abnormal-vertebral-body-morphology",
        "name": "Abnormal vertebral body morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology"
      },
      {
        "slug": "renal-agenesis",
        "name": "Absent kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-agenesis"
      },
      {
        "slug": "asplenia",
        "name": "Absent spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/asplenia"
      },
      {
        "slug": "albuminuria",
        "name": "Albuminuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/albuminuria"
      },
      {
        "slug": "situs-inversus-totalis",
        "name": "All organs on wrong side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/situs-inversus-totalis"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "dilatation-of-the-cerebral-artery",
        "name": "Brain aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery"
      },
      {
        "slug": "aortic-root-aneurysm",
        "name": "Bulge in wall of root of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-root-aneurysm"
      },
      {
        "slug": "calcium-oxalate-nephrolithiasis",
        "name": "Calcium oxalate nephrolithiasis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/calcium-oxalate-nephrolithiasis"
      },
      {
        "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": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "cystic-renal-dysplasia",
        "name": "Cystic renal dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cystic-renal-dysplasia"
      },
      {
        "slug": "decreased-glomerular-filtration-rate",
        "name": "Decreased glomerular filtration rate",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-glomerular-filtration-rate"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-creatinine-concentration",
        "name": "Elevated creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration"
      },
      {
        "slug": "elevated-gamma-glutamyltransferase-level",
        "name": "Elevated gamma-glutamyltransferase level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "enlarged-cisterna-magna",
        "name": "Enlarged cisterna magna",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enlarged-cisterna-magna"
      },
      {
        "slug": "enlarged-kidney",
        "name": "Enlarged kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enlarged-kidney"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "polydipsia",
        "name": "Extreme thirst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polydipsia"
      },
      {
        "slug": "flank-pain",
        "name": "Flank pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flank-pain"
      },
      {
        "slug": "arachnoid-cyst",
        "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arachnoid-cyst"
      },
      {
        "slug": "focal-segmental-glomerulosclerosis",
        "name": "Focal segmental glomerulosclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperamylasemia",
        "name": "Hyperamylasemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperamylasemia"
      },
      {
        "slug": "hyperechogenic-kidneys",
        "name": "Hyperechogenic kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperechogenic-kidneys"
      },
      {
        "slug": "increased-circulating-lipoprotein-lipase-concentration",
        "name": "Increased circulating lipoprotein lipase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-circulating-lipoprotein-lipase-concentration"
      },
      {
        "slug": "elevated-pulmonary-artery-pressure",
        "name": "increased pulmonary artery pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-pulmonary-artery-pressure"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "hepatic-cysts",
        "name": "Liver cysts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatic-cysts"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "malformation-of-the-hepatic-ductal-plate",
        "name": "Malformation of the hepatic ductal plate",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/malformation-of-the-hepatic-ductal-plate"
      },
      {
        "slug": "mitral-valve-prolapse",
        "name": "Mitral valve prolapse",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mitral-valve-prolapse"
      },
      {
        "slug": "aortic-valve-stenosis",
        "name": "Narrowing of aortic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-valve-stenosis"
      },
      {
        "slug": "pulmonic-stenosis",
        "name": "Narrowing of pulmonic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonic-stenosis"
      },
      {
        "slug": "neonatal-cholestatic-liver-disease",
        "name": "Neonatal cholestatic liver disease",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-cholestatic-liver-disease"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "nephronophthisis",
        "name": "Nephronophthisis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nephronophthisis"
      },
      {
        "slug": "nonimmune-hydrops-fetalis",
        "name": "Nonimmune hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis"
      },
      {
        "slug": "pancreatic-cysts",
        "name": "Pancreatic cysts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatic-cysts"
      },
      {
        "slug": "pancreatic-dysplasia",
        "name": "Pancreatic dysplasia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancreatic-dysplasia"
      },
      {
        "slug": "pancreatic-fibrosis",
        "name": "Pancreatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancreatic-fibrosis"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "pituitary-growth-hormone-cell-adenoma",
        "name": "Pituitary growth hormone cell adenoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pituitary-growth-hormone-cell-adenoma"
      },
      {
        "slug": "polycystic-liver-disease",
        "name": "Polycystic liver disease",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polycystic-liver-disease"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "pyelonephritis",
        "name": "Pyelonephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pyelonephritis"
      },
      {
        "slug": "reduced-sperm-motility",
        "name": "Reduced sperm motility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-sperm-motility"
      },
      {
        "slug": "renal-cortical-microcysts",
        "name": "Renal cortical microcysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-cortical-microcysts"
      },
      {
        "slug": "renal-dysplasia",
        "name": "Renal dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-dysplasia"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "truncus-arteriosus",
        "name": "Truncus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/truncus-arteriosus"
      },
      {
        "slug": "type-i-diabetes-mellitus",
        "name": "Type 1 diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus"
      },
      {
        "slug": "uric-acid-nephrolithiasis",
        "name": "Uric acid stones",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/uric-acid-nephrolithiasis"
      }
    ],
    "related": [
      {
        "slug": "adamts9",
        "symbol": "ADAMTS9",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 9",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/adamts9"
      },
      {
        "slug": "alg5",
        "symbol": "ALG5",
        "name": "ALG5 dolichyl-phosphate beta-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg5"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg9"
      },
      {
        "slug": "anks6",
        "symbol": "ANKS6",
        "name": "ankyrin repeat and sterile alpha motif domain containing 6",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/anks6"
      },
      {
        "slug": "cep164",
        "symbol": "CEP164",
        "name": "centrosomal protein 164",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cep164"
      },
      {
        "slug": "cep83",
        "symbol": "CEP83",
        "name": "centrosomal protein 83",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cep83"
      },
      {
        "slug": "dcdc2",
        "symbol": "DCDC2",
        "name": "doublecortin domain containing 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/dcdc2"
      },
      {
        "slug": "dnajb11",
        "symbol": "DNAJB11",
        "name": "DnaJ heat shock protein family (Hsp40) member B11",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/dnajb11"
      },
      {
        "slug": "dzip1l",
        "symbol": "DZIP1L",
        "name": "DAZ interacting zinc finger protein 1 like",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/dzip1l"
      },
      {
        "slug": "ganab",
        "symbol": "GANAB",
        "name": "glucosidase II alpha subunit",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ganab"
      },
      {
        "slug": "glis2",
        "symbol": "GLIS2",
        "name": "GLIS family zinc finger 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/glis2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}