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"-", "slug": "naprt" }, { "symbol": "EEF1D", "ensemblId": "ENSG00000104529", "biotype": "protein_coding", "start": 143579697, "end": 143599541, "strand": "-", "slug": "eef1d" }, { "symbol": "TIGD5", "ensemblId": "ENSG00000179886", "biotype": "protein_coding", "start": 143597831, "end": 143603224, "strand": "+", "slug": "tigd5" }, { "symbol": "PYCR3", "ensemblId": "ENSG00000104524", "biotype": "protein_coding", "start": 143603210, "end": 143609773, "strand": "-", "slug": "pycr3" }, { "symbol": "GFUS", "ensemblId": "ENSG00000104522", "biotype": "protein_coding", "start": 143612617, "end": 143618048, "strand": "-", "slug": "gfus" }, { "symbol": "ZNF623", "ensemblId": "ENSG00000183309", "biotype": "protein_coding", "start": 143635518, "end": 143656418, "strand": "+", "slug": "znf623" }, { "symbol": "ZNF707", "ensemblId": "ENSG00000181135", "biotype": "protein_coding", "start": 143684452, "end": 143713898, "strand": "+", "slug": "znf707" }, { "symbol": "CCDC166", "ensemblId": "ENSG00000255181", "biotype": "protein_coding", "start": 143706694, "end": 143708109, "strand": "-", "slug": "ccdc166" } ], "truncated": false }, "reports": [ { "slug": "hyperlipidemia", "name": "Hyperlipidemi", "diseases": [ { "mondoId": "MONDO:0021187", "name": "Hyperlipidemi", "genes": 11, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/no/conditions/hyperlipidemia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "colitis", "name": "Colitis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/colitis" }, { "slug": "decreased-circulating-hdl-c-concentration", "name": "Decreased circulating high-density lipoprotein cholesterol", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-hdl-c-concentration" }, { "slug": "decreased-circulating-ldl-c-concentration", "name": "Decreased circulating LDL-C concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-ldl-c-concentration" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "hyperlipoproteinemia", "name": "Hyperlipoproteinemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hyperlipoproteinemia" }, { "slug": "increased-circulating-chylomicron-concentration", "name": "Increased circulating chylomicron concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-chylomicron-concentration" }, { "slug": "hypertriglyceridemia", "name": "Increased plasma triglycerides", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertriglyceridemia" }, { "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": "lipemia-retinalis", "name": "Lipemia retinalis", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lipemia-retinalis" }, { "slug": "premature-coronary-artery-atherosclerosis", "name": "Premature coronary artery disease", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/premature-coronary-artery-atherosclerosis" }, { "slug": "recurrent-pancreatitis", "name": "Recurring pancreas inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-pancreatitis" } ], "related": [ { "slug": "apoa5", "symbol": "APOA5", "name": "apolipoprotein A5", "shared": 1, "url": "https://dantelabs.com/no/genes/apoa5" }, { "slug": "apob", "symbol": "APOB", "name": "apolipoprotein B", "shared": 1, "url": "https://dantelabs.com/no/genes/apob" }, { "slug": "apoc2", "symbol": "APOC2", "name": "apolipoprotein C2", "shared": 1, "url": "https://dantelabs.com/no/genes/apoc2" }, { "slug": "apoe", "symbol": "APOE", "name": "apolipoprotein E", "shared": 1, "url": "https://dantelabs.com/no/genes/apoe" }, { "slug": "cetp", "symbol": "CETP", "name": "cholesteryl ester transfer protein", "shared": 1, "url": "https://dantelabs.com/no/genes/cetp" }, { "slug": "ldlr", "symbol": "LDLR", "name": "low density lipoprotein receptor", "shared": 1, "url": "https://dantelabs.com/no/genes/ldlr" }, { "slug": "ldlrap1", "symbol": "LDLRAP1", "name": "low density lipoprotein receptor adaptor protein 1", "shared": 1, "url": "https://dantelabs.com/no/genes/ldlrap1" }, { "slug": "lipc", "symbol": "LIPC", "name": "lipase C, hepatic type", "shared": 1, "url": "https://dantelabs.com/no/genes/lipc" }, { "slug": "lpl", "symbol": "LPL", "name": "lipoprotein lipase", "shared": 1, "url": "https://dantelabs.com/no/genes/lpl" }, { "slug": "pcsk9", "symbol": "PCSK9", "name": "proprotein convertase subtilisin/kexin type 9", "shared": 1, "url": "https://dantelabs.com/no/genes/pcsk9" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }