{ "url": "https://dantelabs.com/sv/genes/prkcsh", "gene": { "slug": "prkcsh", "symbol": "PRKCSH", "name": "PRKCSH beta subunit of glucosidase II", "hgnc": "HGNC:9411", "summary": null, "location": "19p13.2", "locusType": "gene with protein product", "aliases": [ "VASAP-60", "GIIB", "PKCSH", "80K-H", "AGE-R2", "GIIbeta", "GluIIbeta" ], "previousSymbols": [ "G19P1", "PCLD", "PLD1" ], "ensemblId": "ENSG00000130175", "entrezId": 5589, "omim": [ "177060" ], "uniprot": [ "P14314" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 11435635, "end": 11450968, "strand": "+", "ensemblTranscript": "ENST00000677123.1", "refseqTranscript": "NM_001289104.2", "ensemblProtein": "ENSP00000503163.1", "refseqProtein": "NP_001276033.1", "exons": [ { "start": 11435635, "end": 11435706 }, { "start": 11436041, "end": 11436196 }, { "start": 11436389, "end": 11436505 }, { "start": 11437876, "end": 11437971 }, { "start": 11438067, "end": 11438124 }, { "start": 11441240, "end": 11441357 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11435782, "strand": "-", "slug": "odad3" }, { "symbol": "ELAVL3", "ensemblId": "ENSG00000196361", "biotype": "protein_coding", "start": 11451326, "end": 11481051, "strand": "-", "slug": "elavl3" }, { "symbol": "", "ensemblId": "ENSG00000267477", "biotype": "protein_coding", "start": 11466240, "end": 11505698, "strand": "-" }, { "symbol": "ZNF653", "ensemblId": "ENSG00000161914", "biotype": "protein_coding", "start": 11483134, "end": 11505839, "strand": "-", "slug": "znf653" }, { "symbol": "ECSIT", "ensemblId": "ENSG00000130159", "biotype": "protein_coding", "start": 11505916, "end": 11540137, "strand": "-", "slug": "ecsit" }, { "symbol": "CNN1", "ensemblId": "ENSG00000130176", "biotype": "protein_coding", "start": 11538767, "end": 11550323, "strand": "+", "slug": "cnn1" }, { "symbol": "ELOF1", "ensemblId": "ENSG00000130165", "biotype": "protein_coding", "start": 11551147, "end": 11559325, "strand": "-", "slug": "elof1" }, { "symbol": "ZNF627", "ensemblId": "ENSG00000198551", "biotype": "protein_coding", "start": 11559374, "end": 11622582, "strand": "+", "slug": "znf627" }, { "symbol": "ACP5", "ensemblId": "ENSG00000102575", "biotype": "protein_coding", "start": 11574653, "end": 11579993, "strand": "-", "slug": "acp5" }, { "symbol": "ZNF823", "ensemblId": "ENSG00000197933", "biotype": "protein_coding", "start": 11721263, "end": 11739027, "strand": "-", "slug": "znf823" }, { "symbol": "ZNF441", "ensemblId": "ENSG00000197044", "biotype": "protein_coding", "start": 11767000, "end": 11784078, "strand": "+", "slug": "znf441" }, { "symbol": "ZNF491", "ensemblId": "ENSG00000177599", "biotype": "protein_coding", "start": 11797642, "end": 11809622, "strand": "+", "slug": "znf491" }, { "symbol": "ZNF440", "ensemblId": "ENSG00000171295", "biotype": "protein_coding", "start": 11814257, "end": 11835567, "strand": "+", "slug": "znf440" }, { "symbol": "ZNF439", "ensemblId": "ENSG00000171291", "biotype": "protein_coding", "start": 11848716, "end": 11883750, "strand": "+", "slug": "znf439" }, { "symbol": "ZNF69", "ensemblId": "ENSG00000198429", "biotype": "protein_coding", "start": 11887759, "end": 11919844, "strand": "+", "slug": "znf69" }, { "symbol": "ZNF700", "ensemblId": "ENSG00000196757", "biotype": "protein_coding", "start": 11925064, "end": 11950774, "strand": "+", "slug": "znf700" }, { "symbol": "", "ensemblId": "ENSG00000267179", "biotype": "protein_coding", "start": 11925075, "end": 11979290, "strand": "+" } ], "truncated": false }, "reports": [ { "slug": "polycystic-liver-disease-1-and-2", "name": "Polycystisk leversjukdom (1 och 2)", "diseases": [ { "mondoId": "MONDO:0008265", "name": "Polycystisk leversjukdom 1", "genes": 1, "inheritance": "autosomal-dominant", "description": "En polycystisk leversjukdom där orsaken till sjukdomen är en mutation i genen PRKCSH, och som kännetecknas av att många cystor sprids i hela levern.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/polycystic-liver-disease-1-and-2" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-distention", "name": "Abdominal bloating", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "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-heart-valve-morphology", "name": "Abnormal heart valve morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-heart-valve-morphology" }, { "slug": "abnormality-of-the-pancreas", "name": "Abnormality of the pancreas", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-pancreas" }, { "slug": "abnormality-of-the-respiratory-system", "name": "Abnormality of the respiratory system", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-respiratory-system" }, { "slug": "ascites", "name": "Accumulation of fluid in the abdomen", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/ascites" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "vascular-dilatation", "name": "Aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vascular-dilatation" }, { "slug": "back-pain", "name": "Back pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/back-pain" }, { "slug": "dilatation-of-the-cerebral-artery", "name": "Brain aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "renal-cyst", "name": "Cystic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/renal-cyst" }, { "slug": "elevated-circulating-alkaline-phosphatase-concentration", "name": "Elevated alkaline phosphatase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration" }, { "slug": "elevated-gamma-glutamyltransferase-level", "name": "Elevated gamma-glutamyltransferase level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "early-satiety", "name": "Feeling full quickly when eating", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/early-satiety" }, { "slug": "pedal-edema", "name": "Fluid accumulation in lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pedal-edema" }, { "slug": "gastrointestinal-hemorrhage", "name": "Gastrointestinal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage" }, { "slug": "increased-total-bilirubin", "name": "High bili total", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-total-bilirubin" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "multiple-renal-cysts", "name": "Multiple kidney cysts", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/multiple-renal-cysts" }, { "slug": "polycystic-liver-disease", "name": "Polycystic liver disease", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/polycystic-liver-disease" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency" } ], "related": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }