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"ensemblId": "ENSG00000082014", "biotype": "protein_coding", "start": 151238764, "end": 151277896, "strand": "-", "slug": "smarcd3" }, { "symbol": "NUB1", "ensemblId": "ENSG00000013374", "biotype": "protein_coding", "start": 151341704, "end": 151381097, "strand": "+", "slug": "nub1" }, { "symbol": "WDR86", "ensemblId": "ENSG00000187260", "biotype": "protein_coding", "start": 151375909, "end": 151410727, "strand": "-", "slug": "wdr86" }, { "symbol": "CRYGN", "ensemblId": "ENSG00000127377", "biotype": "protein_coding", "start": 151428293, "end": 151440813, "strand": "-", "slug": "crygn" }, { "symbol": "RHEB", "ensemblId": "ENSG00000106615", "biotype": "protein_coding", "start": 151465976, "end": 151520120, "strand": "-", "slug": "rheb" }, { "symbol": "PRKAG2", "ensemblId": "ENSG00000106617", "biotype": "protein_coding", "start": 151556010, "end": 151877563, "strand": "-", "slug": "prkag2" } ], "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": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/cs/conditions/hereditary-spherocytosis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "cortical-sclerosis", "name": "Cortical sclerosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cortical-sclerosis" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "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-creatinine-concentration", "name": "Elevated creatinine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration" }, { "slug": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "osteopetrosis", "name": "Harder, denser, fracture-prone bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/osteopetrosis" }, { "slug": "increased-bone-mineral-density", "name": "Increased bone mineral density", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-bone-mineral-density" }, { "slug": "hyperkalemia", "name": "Increased circulating potassium concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperkalemia" }, { "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": "papilledema", "name": "Papilledema", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/papilledema" }, { "slug": "pathologic-fracture", "name": "Spontaneous fracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pathologic-fracture" }, { "slug": "stage-3-chronic-kidney-disease", "name": "Stage 3 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/stage-3-chronic-kidney-disease" }, { "slug": "thick-skull-base", "name": "Thick skull base", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thick-skull-base" } ], "related": [ { "slug": "ank1", "symbol": "ANK1", "name": "ankyrin 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/ank1" }, { "slug": "epb42", "symbol": "EPB42", "name": "erythrocyte membrane protein band 4.2", "shared": 1, "url": "https://dantelabs.com/cs/genes/epb42" }, { "slug": "slc4a1", "symbol": "SLC4A1", "name": "solute carrier family 4 member 1 (Diego blood group)", "shared": 1, "url": "https://dantelabs.com/cs/genes/slc4a1" }, { "slug": "spta1", "symbol": "SPTA1", "name": "spectrin alpha, erythrocytic 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/spta1" }, { "slug": "sptb", "symbol": "SPTB", "name": "spectrin beta, erythrocytic", "shared": 1, "url": "https://dantelabs.com/cs/genes/sptb" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }