{
  "url": "https://dantelabs.com/hu/genes/slc4a1",
  "gene": {
    "slug": "slc4a1",
    "symbol": "SLC4A1",
    "name": "solute carrier family 4 member 1 (Diego blood group)",
    "hgnc": "HGNC:11027",
    "summary": null,
    "location": "17q21.31",
    "locusType": "gene with protein product",
    "aliases": [
      "RTA1A",
      "CD233",
      "FR",
      "SW",
      "WR",
      "EMPB3"
    ],
    "previousSymbols": [
      "EPB3",
      "AE1",
      "DI",
      "WD"
    ],
    "ensemblId": "ENSG00000004939",
    "entrezId": 6521,
    "omim": [
      "109270"
    ],
    "uniprot": [
      "P02730"
    ],
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      "build": "GRCh38",
      "release": "v1.5",
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      "end": 44268135,
      "strand": "-",
      "ensemblTranscript": "ENST00000262418.12",
      "refseqTranscript": "NM_000342.4",
      "ensemblProtein": "ENSP00000262418.6",
      "refseqProtein": "NP_000333.1",
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        {
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      ],
      "cds": {
        "start": 44250458,
        "end": 44262866
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 42325753,
      "end": 42345509,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
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      "end": 44758262,
      "genes": [
        {
          "symbol": "SOST",
          "ensemblId": "ENSG00000167941",
          "biotype": "protein_coding",
          "start": 43753738,
          "end": 43758791,
          "strand": "-",
          "slug": "sost"
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        {
          "symbol": "DUSP3",
          "ensemblId": "ENSG00000108861",
          "biotype": "protein_coding",
          "start": 43763629,
          "end": 43779000,
          "strand": "-",
          "slug": "dusp3"
        },
        {
          "symbol": "CFAP97D1",
          "ensemblId": "ENSG00000231256",
          "biotype": "protein_coding",
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          "end": 43787620,
          "strand": "+",
          "slug": "cfap97d1"
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        {
          "symbol": "MPP3",
          "ensemblId": "ENSG00000161647",
          "biotype": "protein_coding",
          "start": 43800795,
          "end": 43833203,
          "strand": "-",
          "slug": "mpp3"
        },
        {
          "symbol": "CD300LG",
          "ensemblId": "ENSG00000161649",
          "biotype": "protein_coding",
          "start": 43847114,
          "end": 43863639,
          "strand": "+",
          "slug": "cd300lg"
        },
        {
          "symbol": "MPP2",
          "ensemblId": "ENSG00000108852",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "mpp2"
        },
        {
          "symbol": "PPY",
          "ensemblId": "ENSG00000108849",
          "biotype": "protein_coding",
          "start": 43940804,
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          "strand": "-",
          "slug": "ppy"
        },
        {
          "symbol": "PYY",
          "ensemblId": "ENSG00000131096",
          "biotype": "protein_coding",
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          "end": 44004469,
          "strand": "-",
          "slug": "pyy"
        },
        {
          "symbol": "NAGS",
          "ensemblId": "ENSG00000161653",
          "biotype": "protein_coding",
          "start": 44004581,
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          "strand": "+",
          "slug": "nags"
        },
        {
          "symbol": "TMEM101",
          "ensemblId": "ENSG00000091947",
          "biotype": "protein_coding",
          "start": 44008986,
          "end": 44023946,
          "strand": "-",
          "slug": "tmem101"
        },
        {
          "symbol": "LSM12",
          "ensemblId": "ENSG00000161654",
          "biotype": "protein_coding",
          "start": 44033931,
          "end": 44067619,
          "strand": "-",
          "slug": "lsm12"
        },
        {
          "symbol": "G6PC3",
          "ensemblId": "ENSG00000141349",
          "biotype": "protein_coding",
          "start": 44070620,
          "end": 44094678,
          "strand": "+",
          "slug": "g6pc3"
        },
        {
          "symbol": "HDAC5",
          "ensemblId": "ENSG00000108840",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "hdac5"
        },
        {
          "symbol": "HROB",
          "ensemblId": "ENSG00000125319",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "hrob"
        },
        {
          "symbol": "ASB16",
          "ensemblId": "ENSG00000161664",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "asb16"
        },
        {
          "symbol": "TMUB2",
          "ensemblId": "ENSG00000168591",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "tmub2"
        },
        {
          "symbol": "ATXN7L3",
          "ensemblId": "ENSG00000087152",
          "biotype": "protein_coding",
          "start": 44191804,
          "end": 44200961,
          "strand": "-",
          "slug": "atxn7l3"
        },
        {
          "symbol": "UBTF",
          "ensemblId": "ENSG00000108312",
          "biotype": "protein_coding",
          "start": 44205033,
          "end": 44221626,
          "strand": "-",
          "slug": "ubtf"
        },
        {
          "symbol": "RUNDC3A",
          "ensemblId": "ENSG00000108309",
          "biotype": "protein_coding",
          "start": 44307945,
          "end": 44318675,
          "strand": "+",
          "slug": "rundc3a"
        },
        {
          "symbol": "SLC25A39",
          "ensemblId": "ENSG00000013306",
          "biotype": "protein_coding",
          "start": 44316821,
          "end": 44326639,
          "strand": "-",
          "slug": "slc25a39"
        },
        {
          "symbol": "GRN",
          "ensemblId": "ENSG00000030582",
          "biotype": "protein_coding",
          "start": 44345108,
          "end": 44353106,
          "strand": "+",
          "slug": "grn"
        },
        {
          "symbol": "FAM171A2",
          "ensemblId": "ENSG00000161682",
          "biotype": "protein_coding",
          "start": 44353215,
          "end": 44363875,
          "strand": "-",
          "slug": "fam171a2"
        },
        {
          "symbol": "ITGA2B",
          "ensemblId": "ENSG00000005961",
          "biotype": "protein_coding",
          "start": 44372177,
          "end": 44389649,
          "strand": "-",
          "slug": "itga2b"
        },
        {
          "symbol": "GPATCH8",
          "ensemblId": "ENSG00000186566",
          "biotype": "protein_coding",
          "start": 44395281,
          "end": 44503639,
          "strand": "-",
          "slug": "gpatch8"
        },
        {
          "symbol": "FZD2",
          "ensemblId": "ENSG00000180340",
          "biotype": "protein_coding",
          "start": 44557484,
          "end": 44561262,
          "strand": "+",
          "slug": "fzd2"
        },
        {
          "symbol": "MEIOC",
          "ensemblId": "ENSG00000180336",
          "biotype": "protein_coding",
          "start": 44656363,
          "end": 44690308,
          "strand": "+",
          "slug": "meioc"
        },
        {
          "symbol": "CCDC43",
          "ensemblId": "ENSG00000180329",
          "biotype": "protein_coding",
          "start": 44671063,
          "end": 44689831,
          "strand": "-",
          "slug": "ccdc43"
        },
        {
          "symbol": "DBF4B",
          "ensemblId": "ENSG00000161692",
          "biotype": "protein_coding",
          "start": 44708595,
          "end": 44752269,
          "strand": "+",
          "slug": "dbf4b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-spherocytosis",
        "name": "Hereditary Spherocytosis",
        "diseases": [
          {
            "mondoId": "MONDO:0019350",
            "name": "Hereditary Spherocytosis",
            "genes": 6,
            "inheritance": null,
            "description": "Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.",
            "management": "Folic acid supplementation; splenectomy for moderate-severe disease (partial or total); pre-splenectomy vaccination; cholecystectomy for gallstones; transfusion support during aplastic crises; monitoring for parvovirus B19",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/hereditary-spherocytosis"
      },
      {
        "slug": "red-blood-cell-membrane-disorders",
        "name": "Red Blood Cell Membrane Disorders",
        "diseases": [
          {
            "mondoId": "MONDO:0008494",
            "name": "Cryohydrocytosis",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0017319",
            "name": "Hereditary Elliptocytosis",
            "genes": 4,
            "inheritance": "autosomal-dominant",
            "description": "Inherited changes in red cell skeleton proteins, mainly encoded by SPTA1, SPTB or EPB41, that make red cells oval or elongated; most people have no symptoms, but some have haemolytic anaemia.",
            "management": "Knowing about it explains unusual blood film findings and guides management of anaemia where present.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0020102",
            "name": "Hereditary Stomatocytosis",
            "genes": 5,
            "inheritance": "autosomal-dominant",
            "description": "A group of conditions in which red cells leak or gain water and salts, including dehydrated hereditary stomatocytosis (PIEZO1, KCNN4), overhydrated stomatocytosis (RHAG), Southeast Asian ovalocytosis and Rh-deficiency syndrome, causing haemolytic anaemia of varying severity and sometimes iron overload.",
            "management": "Spleen removal should be avoided because it raises the risk of serious blood clots in these conditions.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/red-blood-cell-membrane-disorders"
      },
      {
        "slug": "renal-tubular-acidosis",
        "name": "Renal Tubular Acidosis",
        "diseases": [
          {
            "mondoId": "MONDO:0015827",
            "name": "Distal Renal Tubular Acidosis",
            "genes": 5,
            "inheritance": "autosomal-recessive",
            "description": "An inherited inability of the kidney's collecting ducts to excrete acid, caused by variants in SLC4A1, ATP6V1B1, ATP6V0A4 and other genes; some forms also cause hearing loss.",
            "management": "Alkali treatment can prevent kidney calcification and growth problems, and some forms warrant a hearing assessment.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/renal-tubular-acidosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-circulating-potassium-concentration",
        "name": "Abnormal circulating potassium concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-potassium-concentration"
      },
      {
        "slug": "renal-tubular-acidosis",
        "name": "Accumulation of acid in body due to kidney problem",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-tubular-acidosis"
      },
      {
        "slug": "anemia-of-inadequate-production",
        "name": "Anemia of inadequate production",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia-of-inadequate-production"
      },
      {
        "slug": "anemic-pallor",
        "name": "Anemic pallor",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemic-pallor"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "portal-vein-thrombosis",
        "name": "Blood clot in portal vein",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/portal-vein-thrombosis"
      },
      {
        "slug": "chills",
        "name": "Chills",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chills"
      },
      {
        "slug": "congenital-hemolytic-anemia",
        "name": "Congenital hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-hemolytic-anemia"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "decreased-circulating-haptoglobin-concentration",
        "name": "Decreased circulating haptoglobin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-haptoglobin-concentration"
      },
      {
        "slug": "decreased-mean-corpuscular-volume",
        "name": "Decreased mean corpuscular volume",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-mean-corpuscular-volume"
      },
      {
        "slug": "distal-renal-tubular-acidosis",
        "name": "Distal renal tubular acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/distal-renal-tubular-acidosis"
      },
      {
        "slug": "elevated-circulating-creatinine-concentration",
        "name": "Elevated creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration"
      },
      {
        "slug": "increased-circulating-ferritin-concentration",
        "name": "Elevated serum ferritin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration"
      },
      {
        "slug": "elliptocytosis",
        "name": "Elliptocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elliptocytosis"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "episodic-fatigue",
        "name": "Episodic fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/episodic-fatigue"
      },
      {
        "slug": "extramedullary-hematopoiesis",
        "name": "Extramedullary hematopoiesis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/extramedullary-hematopoiesis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "cholelithiasis",
        "name": "Gallstones",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholelithiasis"
      },
      {
        "slug": "gout",
        "name": "Gout",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/gout"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hemolytic-anemia",
        "name": "Hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hemolytic-anemia"
      },
      {
        "slug": "increased-total-bilirubin",
        "name": "High bili total",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-bilirubin"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "hyperchloremic-metabolic-acidosis",
        "name": "Hyperchloremic metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperchloremic-metabolic-acidosis"
      },
      {
        "slug": "hypercoagulability",
        "name": "Hypercoagulability",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercoagulability"
      },
      {
        "slug": "hypochromia",
        "name": "Hypochromia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypochromia"
      },
      {
        "slug": "hypofibrinogenemia",
        "name": "Hypofibrinogenemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypofibrinogenemia"
      },
      {
        "slug": "impaired-urinary-acidification",
        "name": "Impaired urinary acidification",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-urinary-acidification"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "increased-circulating-hemoglobin-concentration",
        "name": "Increased circulating hemoglobin concentration",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-circulating-hemoglobin-concentration"
      },
      {
        "slug": "increased-circulating-lactate-dehydrogenase-concentration",
        "name": "Increased circulating lactate dehydrogenase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration"
      },
      {
        "slug": "reticulocytosis",
        "name": "Increased immature red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reticulocytosis"
      },
      {
        "slug": "increased-mean-corpuscular-hemoglobin-concentration",
        "name": "Increased mean corpuscular hemoglobin concentration",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-mean-corpuscular-hemoglobin-concentration"
      },
      {
        "slug": "increased-mean-corpuscular-volume",
        "name": "Increased mean corpuscular volume",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-mean-corpuscular-volume"
      },
      {
        "slug": "polycythemia",
        "name": "Increased red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/polycythemia"
      },
      {
        "slug": "increased-red-cell-osmotic-fragility",
        "name": "Increased red cell osmotic fragility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-red-cell-osmotic-fragility"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "intermittent-jaundice",
        "name": "Intermittent yellow skin",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intermittent-jaundice"
      },
      {
        "slug": "isothenuria",
        "name": "Isothenuria",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/isothenuria"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "macrocytic-anemia",
        "name": "Macrocytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocytic-anemia"
      },
      {
        "slug": "maculopapular-exanthema",
        "name": "Maculopapular exanthema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/maculopapular-exanthema"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neonatal-hyperbilirubinemia",
        "name": "Neonatal hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-hyperbilirubinemia"
      },
      {
        "slug": "nonspherocytic-hemolytic-anemia",
        "name": "Nonspherocytic hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nonspherocytic-hemolytic-anemia"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "polychromasia",
        "name": "Polychromasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polychromasia"
      },
      {
        "slug": "pseudohyperkalemia",
        "name": "Pseudohyperkalemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/pseudohyperkalemia"
      },
      {
        "slug": "pulmonary-venous-hypertension",
        "name": "Pulmonary venous hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pulmonary-venous-hypertension"
      },
      {
        "slug": "restrictive-cardiomyopathy",
        "name": "Restrictive cardiomyopathy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/restrictive-cardiomyopathy"
      },
      {
        "slug": "schistocytosis",
        "name": "Schistocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/schistocytosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "osteomalacia",
        "name": "Softening of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteomalacia"
      },
      {
        "slug": "spherocytosis",
        "name": "Spherocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spherocytosis"
      },
      {
        "slug": "pathologic-fracture",
        "name": "Spontaneous fracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pathologic-fracture"
      },
      {
        "slug": "spontaneous-hemolytic-crises",
        "name": "Spontaneous hemolytic crises",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spontaneous-hemolytic-crises"
      },
      {
        "slug": "stomatocytosis",
        "name": "Stomatocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stomatocytosis"
      },
      {
        "slug": "thromboembolism",
        "name": "Thromboembolism",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thromboembolism"
      },
      {
        "slug": "unconjugated-hyperbilirubinemia",
        "name": "Unconjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unconjugated-hyperbilirubinemia"
      },
      {
        "slug": "rickets",
        "name": "Weak and soft bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/rickets"
      }
    ],
    "related": [
      {
        "slug": "spta1",
        "symbol": "SPTA1",
        "name": "spectrin alpha, erythrocytic 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/spta1"
      },
      {
        "slug": "sptb",
        "symbol": "SPTB",
        "name": "spectrin beta, erythrocytic",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/sptb"
      },
      {
        "slug": "ank1",
        "symbol": "ANK1",
        "name": "ankyrin 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ank1"
      },
      {
        "slug": "atp6v0a4",
        "symbol": "ATP6V0A4",
        "name": "ATPase H+ transporting V0 subunit a4",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp6v0a4"
      },
      {
        "slug": "atp6v1b1",
        "symbol": "ATP6V1B1",
        "name": "ATPase H+ transporting V1 subunit B1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp6v1b1"
      },
      {
        "slug": "epb41",
        "symbol": "EPB41",
        "name": "erythrocyte membrane protein band 4.1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/epb41"
      },
      {
        "slug": "epb42",
        "symbol": "EPB42",
        "name": "erythrocyte membrane protein band 4.2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/epb42"
      },
      {
        "slug": "foxi1",
        "symbol": "FOXI1",
        "name": "forkhead box I1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/foxi1"
      },
      {
        "slug": "kcnn4",
        "symbol": "KCNN4",
        "name": "potassium calcium-activated channel subfamily N member 4",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/kcnn4"
      },
      {
        "slug": "piezo1",
        "symbol": "PIEZO1",
        "name": "piezo type mechanosensitive ion channel component 1 (Er blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/piezo1"
      },
      {
        "slug": "rhag",
        "symbol": "RHAG",
        "name": "Rh associated glycoprotein",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/rhag"
      },
      {
        "slug": "rhce",
        "symbol": "RHCE",
        "name": "Rh blood group CcEe antigens",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/rhce"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}