{
  "url": "https://dantelabs.com/sv/genes/trpv6",
  "gene": {
    "slug": "trpv6",
    "symbol": "TRPV6",
    "name": "transient receptor potential cation channel subfamily V member 6",
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    "entrezId": 55503,
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    "uniprot": [
      "Q9H1D0"
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      "strand": "-",
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      "refseqTranscript": "NM_018646.6",
      "ensemblProtein": "ENSP00000352358.5",
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      "build": "GRCh37",
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      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
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        {
          "symbol": "TRBV11-2",
          "ensemblId": "ENSG00000241657",
          "biotype": "protein_coding",
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          "end": 142434394,
          "strand": "+",
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        {
          "symbol": "PRSS1",
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        {
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        {
          "symbol": "EPHB6",
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          "slug": "ephb6"
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        {
          "symbol": "TRPV5",
          "ensemblId": "ENSG00000127412",
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          "strand": "-",
          "slug": "trpv5"
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        {
          "symbol": "SOFU1",
          "ensemblId": "ENSG00000165131",
          "biotype": "protein_coding",
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          "end": 142949915,
          "strand": "+",
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        },
        {
          "symbol": "KEL",
          "ensemblId": "ENSG00000197993",
          "biotype": "protein_coding",
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        {
          "symbol": "OR9A2",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "OR6V1",
          "ensemblId": "ENSG00000225781",
          "biotype": "protein_coding",
          "start": 143052341,
          "end": 143053282,
          "strand": "+",
          "slug": "or6v1"
        },
        {
          "symbol": "PIP",
          "ensemblId": "ENSG00000159763",
          "biotype": "protein_coding",
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          "end": 143139746,
          "strand": "+",
          "slug": "pip"
        },
        {
          "symbol": "TAS2R39",
          "ensemblId": "ENSG00000236398",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "tas2r39"
        },
        {
          "symbol": "TAS2R40",
          "ensemblId": "ENSG00000221937",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "GSTK1",
          "ensemblId": "ENSG00000197448",
          "biotype": "protein_coding",
          "start": 143244093,
          "end": 143272483,
          "strand": "+",
          "slug": "gstk1"
        },
        {
          "symbol": "TMEM139",
          "ensemblId": "ENSG00000178826",
          "biotype": "protein_coding",
          "start": 143279937,
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          "strand": "+",
          "slug": "tmem139"
        },
        {
          "symbol": "CASP2",
          "ensemblId": "ENSG00000106144",
          "biotype": "protein_coding",
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          "slug": "casp2"
        },
        {
          "symbol": "CLCN1",
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          "biotype": "protein_coding",
          "start": 143316111,
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        },
        {
          "symbol": "FAM131B",
          "ensemblId": "ENSG00000159784",
          "biotype": "protein_coding",
          "start": 143353395,
          "end": 143362815,
          "strand": "-",
          "slug": "fam131b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-hypomagnesemia",
        "name": "Familiär hypomagnesemi",
        "diseases": [
          {
            "mondoId": "MONDO:0018100",
            "name": "Familiär primär hypomagnesemi",
            "genes": 9,
            "inheritance": null,
            "description": "En grupp ärftliga sjukdomar med förlust av magnesium via njurarna, orsakade av varianter i gener som CLDN16, CLDN19, TRPM6, CNNM2 och FXYD2; formerna med CLDN16 och CLDN19 kan utvecklas till kronisk njursjukdom.",
            "management": "Tillskott av magnesium kan kontrollera symtomen, och vissa former kräver uppföljning av njurfunktionen och ögonen.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/familial-hypomagnesemia"
      },
      {
        "slug": "pancreatitis",
        "name": "Pankreatit",
        "diseases": [
          {
            "mondoId": "MONDO:0004982",
            "name": "Pankreatit",
            "genes": 5,
            "inheritance": null,
            "description": "Inflammation i bukspottkörteln.",
            "management": "Smärtlindring; ersättning av bukspottkörtelenzymer vid exokrin insufficiens; diabetesbehandling; årlig övervakning med EUS/MRCP för bukspottkörtelcancer från 40 års ålder; total pankreatektomi med autotransplantation av Langerhanska öar (TPIAT) vid svårbehandlade fall",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/pancreatitis"
      },
      {
        "slug": "thyroid-cancer-report",
        "name": "Sköldkörtelcancer",
        "diseases": [
          {
            "mondoId": "MONDO:0001223",
            "name": "Sjukdom i bisköldkörteln",
            "genes": 10,
            "inheritance": null,
            "description": "En sjukdom som påverkar bisköldkörteln.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/thyroid-cancer-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-circulating-calcium-phosphate-regulating-hormone-concentration",
        "name": "Abnormal circulating calcium-phosphate regulating hormone concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-calcium-phosphate-regulating-hormone-concentration"
      },
      {
        "slug": "abnormal-circulating-enzyme-concentration-or-activity",
        "name": "Abnormal circulating enzyme concentration or activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity"
      },
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "abnormality-of-the-thyroid-gland",
        "name": "Abnormality of the thyroid gland",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-thyroid-gland"
      },
      {
        "slug": "abnormal-metaphysis-morphology",
        "name": "Abnormality of the wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology"
      },
      {
        "slug": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "communicating-hydrocephalus",
        "name": "Communicating hydrocephalus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/communicating-hydrocephalus"
      },
      {
        "slug": "congenital-nystagmus",
        "name": "Congenital nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-nystagmus"
      },
      {
        "slug": "splenic-cyst",
        "name": "Cyst on spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenic-cyst"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "hyperparathyroidism",
        "name": "Elevated blood parathyroid hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperparathyroidism"
      },
      {
        "slug": "elevated-circulating-c-reactive-protein-concentration",
        "name": "Elevated circulating C-reactive protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "enlarged-kidney",
        "name": "Enlarged kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "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": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "fractured-rib",
        "name": "Fractured rib",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fractured-rib"
      },
      {
        "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": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "wide-cranial-sutures",
        "name": "Large cranial suture",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-cranial-sutures"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "metaphyseal-spurs",
        "name": "Metaphyseal spurs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/metaphyseal-spurs"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "ovarian-cyst",
        "name": "Ovarian cyst",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ovarian-cyst"
      },
      {
        "slug": "pancreatic-calcification",
        "name": "Pancreatic calcification",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatic-calcification"
      },
      {
        "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": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "recurrent-pancreatitis",
        "name": "Recurring pancreas inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-pancreatitis"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "slug": "short-nasal-bridge",
        "name": "Short nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-nasal-bridge"
      },
      {
        "slug": "short-ribs",
        "name": "Short ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-ribs"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-femur",
        "name": "Short thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-femur"
      },
      {
        "slug": "splanchnic-vein-thrombosis",
        "name": "Splanchnic vein thrombosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splanchnic-vein-thrombosis"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "subperiosteal-bone-formation",
        "name": "Subperiosteal bone formation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subperiosteal-bone-formation"
      },
      {
        "slug": "thin-ribs",
        "name": "Thin ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thin-ribs"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "undulate-ribs",
        "name": "Wavy ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/undulate-ribs"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      }
    ],
    "related": [
      {
        "slug": "aire",
        "symbol": "AIRE",
        "name": "autoimmune regulator",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/aire"
      },
      {
        "slug": "atp1a1",
        "symbol": "ATP1A1",
        "name": "ATPase Na+/K+ transporting subunit alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp1a1"
      },
      {
        "slug": "casr",
        "symbol": "CASR",
        "name": "calcium sensing receptor",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/casr"
      },
      {
        "slug": "cdc73",
        "symbol": "CDC73",
        "name": "cell division cycle 73",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cdc73"
      },
      {
        "slug": "cldn16",
        "symbol": "CLDN16",
        "name": "claudin 16",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cldn16"
      },
      {
        "slug": "cldn19",
        "symbol": "CLDN19",
        "name": "claudin 19",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cldn19"
      },
      {
        "slug": "cnnm2",
        "symbol": "CNNM2",
        "name": "cyclin and CBS domain divalent metal cation transport mediator 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cnnm2"
      },
      {
        "slug": "cpa1",
        "symbol": "CPA1",
        "name": "carboxypeptidase A1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cpa1"
      },
      {
        "slug": "ctrc",
        "symbol": "CTRC",
        "name": "chymotrypsin C",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ctrc"
      },
      {
        "slug": "fxyd2",
        "symbol": "FXYD2",
        "name": "FXYD domain containing ion transport regulator 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/fxyd2"
      },
      {
        "slug": "gcm2",
        "symbol": "GCM2",
        "name": "GCM transcription factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/gcm2"
      },
      {
        "slug": "gna11",
        "symbol": "GNA11",
        "name": "G protein subunit alpha 11",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/gna11"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}