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"biotype": "protein_coding", "start": 1239266, "end": 1242555, "strand": "+", "slug": "tpsab1" }, { "symbol": "TPSD1", "ensemblId": "ENSG00000095917", "biotype": "protein_coding", "start": 1256059, "end": 1259008, "strand": "+", "slug": "tpsd1" }, { "symbol": "UBE2I", "ensemblId": "ENSG00000103275", "biotype": "protein_coding", "start": 1291357, "end": 1327018, "strand": "+", "slug": "ube2i" }, { "symbol": "BAIAP3", "ensemblId": "ENSG00000007516", "biotype": "protein_coding", "start": 1333638, "end": 1349439, "strand": "+", "slug": "baiap3" }, { "symbol": "TSR3", "ensemblId": "ENSG00000007520", "biotype": "protein_coding", "start": 1349236, "end": 1351898, "strand": "-", "slug": "tsr3" }, { "symbol": "GNPTG", "ensemblId": "ENSG00000090581", "biotype": "protein_coding", "start": 1351924, "end": 1365737, "strand": "+", "slug": "gnptg" }, { "symbol": "UNKL", "ensemblId": "ENSG00000059145", "biotype": "protein_coding", "start": 1363205, "end": 1414751, "strand": "-", "slug": "unkl" }, { "symbol": "UQCC4", "ensemblId": "ENSG00000174109", "biotype": "protein_coding", "start": 1419752, "end": 1420756, "strand": "-", "slug": "uqcc4" }, { "symbol": "PERCC1", "ensemblId": "ENSG00000284395", "biotype": "protein_coding", "start": 1431078, "end": 1434441, "strand": "+", "slug": "percc1" }, { "symbol": "CCDC154", "ensemblId": "ENSG00000197599", "biotype": "protein_coding", "start": 1434383, "end": 1444556, "strand": "-", "slug": "ccdc154" }, { "symbol": "CLCN7", "ensemblId": "ENSG00000103249", "biotype": "protein_coding", "start": 1444934, "end": 1475104, "strand": "-", "slug": "clcn7" }, { "symbol": "PTX4", "ensemblId": "ENSG00000251692", "biotype": "protein_coding", "start": 1485886, "end": 1488981, "strand": "-", "slug": "ptx4" }, { "symbol": "TELO2", "ensemblId": "ENSG00000100726", "biotype": "protein_coding", "start": 1493329, "end": 1512551, "strand": "+", "slug": "telo2" }, { "symbol": "IFT140", "ensemblId": "ENSG00000187535", "biotype": "protein_coding", "start": 1510427, "end": 1612082, "strand": "-", "slug": "ift140" }, { "symbol": "TMEM204", "ensemblId": "ENSG00000131634", "biotype": "protein_coding", "start": 1528674, "end": 1555580, "strand": "+", "slug": "tmem204" }, { "symbol": "CRAMP1", "ensemblId": "ENSG00000007545", "biotype": "protein_coding", "start": 1612337, "end": 1677908, "strand": "+", "slug": "cramp1" }, { "symbol": "", "ensemblId": "ENSG00000261732", "biotype": "protein_coding", "start": 1632259, "end": 1686715, "strand": "+" }, { "symbol": "JPT2", "ensemblId": "ENSG00000206053", "biotype": "protein_coding", "start": 1678256, "end": 1702859, "strand": "+", "slug": "jpt2" } ], "truncated": false }, "reports": [ { "slug": "monogenic-hypertension-mineralocorticoid-disorders", "name": "Monogen hypertension og mineralokortikoidforstyrrelser", "diseases": [ { "mondoId": "MONDO:0016525", "name": "Familiær hyperaldosteronisme", "genes": 4, "inheritance": "autosomal-dominant", "description": "En gruppe af tilstande, herunder glukokortikoidbehandlelig aldosteronisme (CYP11B1/CYP11B2) og former forårsaget af CLCN2, KCNJ5 eller CACNA1H, hvor binyrerne producerer for meget aldosteron, hvilket giver højt blodtryk.", "management": "Viden om tilstanden vejleder behandlingen (dexamethason ved glukokortikoidbehandlelig aldosteronisme, aldosteronblokerende lægemidler mere generelt) og understøtter screening af slægtninge.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/da/conditions/monogenic-hypertension-mineralocorticoid-disorders" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-social-behavior", "name": "Abnormal social behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-social-behavior" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depression" }, { "slug": "eeg-with-spike-wave-complexes-2-5-3-5-hz", "name": "EEG with spike-wave complexes (2.5-3.5 Hz)", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/eeg-with-spike-wave-complexes-2-5-3-5-hz" }, { "slug": "elevated-aldosterone-renin-ratio", "name": "Elevated aldosterone:renin ratio", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-aldosterone-renin-ratio" }, { "slug": "increased-circulating-aldosterone-concentration", "name": "Elevated plasma aldosterone", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-aldosterone-concentration" }, { "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years", "name": "Febrile seizure (within the age range of 3 months to 6 years)", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "jerky-head-movements", "name": "Head jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/jerky-head-movements" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "impaired-visuospatial-constructive-cognition", "name": "Impaired visuospatial constructive cognition", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-visuospatial-constructive-cognition" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "limb-myoclonus", "name": "Limb myoclonus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/limb-myoclonus" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "slug": "low-self-esteem", "name": "Low self-esteem", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-self-esteem" }, { "slug": "myoclonic-absence-seizure", "name": "Myoclonic absence seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myoclonic-absence-seizure" }, { "slug": "pallor", "name": "Paleness", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pallor" }, { "slug": "punding", "name": "Punding", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/punding" }, { "slug": "hyperventilation", "name": "Rapid breathing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperventilation" }, { "slug": "dyslexia", "name": "Reading disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dyslexia" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/specific-learning-disability" }, { "slug": "typical-absence-seizure", "name": "Typical absence seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/typical-absence-seizure" }, { "slug": "uncontrolled-eye-movements", "name": "Uncontrolled eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/uncontrolled-eye-movements" } ], "related": [ { "slug": "cacna1d", "symbol": "CACNA1D", "name": "calcium voltage-gated channel subunit alpha1 D", "shared": 1, "url": "https://dantelabs.com/da/genes/cacna1d" }, { "slug": "cyp11b1", "symbol": "CYP11B1", "name": "cytochrome P450 family 11 subfamily B member 1", "shared": 1, "url": "https://dantelabs.com/da/genes/cyp11b1" }, { "slug": "kcnj5", "symbol": "KCNJ5", "name": "potassium inwardly rectifying channel subfamily J member 5", "shared": 1, "url": "https://dantelabs.com/da/genes/kcnj5" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }