{ "url": "https://dantelabs.com/pl/genes/g6pc1", "gene": { "slug": "g6pc1", "symbol": "G6PC1", "name": "glucose-6-phosphatase catalytic subunit 1", "hgnc": "HGNC:4056", "summary": null, "location": "17q21.31", "locusType": "gene with protein product", "aliases": [ "GSD1a" ], "previousSymbols": [ "G6PT", "G6PC" ], "ensemblId": "ENSG00000131482", "entrezId": 2538, "omim": [ "613742" ], "uniprot": [ "P35575" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 42900799, "end": 42914438, "strand": "+", "ensemblTranscript": "ENST00000253801.7", "refseqTranscript": "NM_000151.4", "ensemblProtein": "ENSP00000253801.1", "refseqProtein": "NP_000142.2", "exons": [ { "start": 42900799, "end": 42901106 }, { "start": 42903931, "end": 42904040 }, { "start": 42907523, "end": 42907628 }, { "start": 42909303, "end": 42909418 }, { "start": 42910915, "end": 42914438 } ], "cds": { "start": 42900877, "end": 42911426 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 41052814, "end": 41065386, "strand": "+" }, "neighbourhood": { "release": "116", "start": 42407619, "end": 43407618, "genes": [ { "symbol": "CAVIN1", "ensemblId": "ENSG00000177469", "biotype": "protein_coding", "start": 42402449, "end": 42423322, "strand": "-", "slug": "cavin1" }, { "symbol": "ATP6V0A1", "ensemblId": "ENSG00000033627", "biotype": "protein_coding", "start": 42458823, "end": 42522582, "strand": "+", "slug": "atp6v0a1" }, { "symbol": "NAGLU", "ensemblId": "ENSG00000108784", "biotype": "protein_coding", "start": 42536216, "end": 42544449, "strand": "+", "slug": "naglu" }, { "symbol": "HSD17B1", "ensemblId": "ENSG00000108786", "biotype": "protein_coding", "start": 42552920, "end": 42555217, "strand": "+", "slug": "hsd17b1" }, { "symbol": "COASY", "ensemblId": "ENSG00000068120", "biotype": "protein_coding", "start": 42561467, "end": 42566277, "strand": "+", "slug": "coasy" }, { "symbol": "MLX", "ensemblId": "ENSG00000108788", "biotype": "protein_coding", "start": 42567067, "end": 42573239, "strand": "+", "slug": "mlx" }, { "symbol": "PSMC3IP", "ensemblId": "ENSG00000131470", "biotype": "protein_coding", "start": 42572310, "end": 42577831, "strand": "-", "slug": "psmc3ip" }, { "symbol": "RETREG3", "ensemblId": "ENSG00000141699", "biotype": "protein_coding", "start": 42579508, "end": 42610623, "strand": "-", "slug": "retreg3" }, { "symbol": "TUBG1", "ensemblId": "ENSG00000131462", "biotype": "protein_coding", "start": 42609411, "end": 42615253, "strand": "+", "slug": "tubg1" }, { "symbol": "TUBG2", "ensemblId": "ENSG00000037042", "biotype": "protein_coding", "start": 42659223, "end": 42667007, "strand": "+", "slug": "tubg2" }, { "symbol": "PLEKHH3", "ensemblId": "ENSG00000068137", "biotype": "protein_coding", "start": 42667914, "end": 42677064, "strand": "-", "slug": "plekhh3" }, { "symbol": "CCR10", "ensemblId": "ENSG00000184451", "biotype": "protein_coding", "start": 42678889, "end": 42683917, "strand": "-", "slug": "ccr10" }, { "symbol": "CNTNAP1", "ensemblId": "ENSG00000108797", "biotype": "protein_coding", "start": 42682368, "end": 42699993, "strand": "+", "slug": "cntnap1" }, { "symbol": "EZH1", "ensemblId": "ENSG00000108799", "biotype": "protein_coding", "start": 42700270, "end": 42745069, "strand": "-", "slug": "ezh1" }, { "symbol": "RAMP2", "ensemblId": "ENSG00000131477", "biotype": "protein_coding", "start": 42758447, "end": 42763537, "strand": "+", "slug": "ramp2" }, { "symbol": "VPS25", "ensemblId": "ENSG00000131475", "biotype": "protein_coding", "start": 42773439, "end": 42779600, "strand": "+", "slug": "vps25" }, { "symbol": "WNK4", "ensemblId": "ENSG00000126562", "biotype": "protein_coding", "start": 42780593, "end": 42797066, "strand": "+", "slug": "wnk4" }, { "symbol": "COA3", "ensemblId": "ENSG00000183978", "biotype": "protein_coding", "start": 42793154, "end": 42798719, "strand": "-", "slug": "coa3" }, { "symbol": "CNTD1", "ensemblId": "ENSG00000176563", "biotype": "protein_coding", "start": 42798800, "end": 42811587, "strand": "+", "slug": "cntd1" }, { "symbol": "BECN1", "ensemblId": "ENSG00000126581", "biotype": "protein_coding", "start": 42809108, "end": 42833350, "strand": "-", "slug": "becn1" }, { "symbol": "PSME3", "ensemblId": "ENSG00000131467", "biotype": "protein_coding", "start": 42824385, "end": 42843760, "strand": "+", "slug": "psme3" }, { "symbol": "AOC2", "ensemblId": "ENSG00000131480", "biotype": "protein_coding", "start": 42844574, "end": 42850707, "strand": "+", "slug": "aoc2" }, { "symbol": "AOC3", "ensemblId": "ENSG00000131471", "biotype": "protein_coding", "start": 42851130, "end": 42858130, "strand": "+", "slug": "aoc3" }, { "symbol": "AARSD1", "ensemblId": "ENSG00000266967", "biotype": "protein_coding", "start": 42950424, "end": 42964498, "strand": "-", "slug": "aarsd1" }, { "symbol": "PTGES3L-AARSD1", "ensemblId": "ENSG00000108825", "biotype": "protein_coding", "start": 42950526, "end": 42980528, "strand": "-", "slug": "ptges3l-aarsd1" }, { "symbol": "PTGES3L", "ensemblId": "ENSG00000267060", "biotype": "protein_coding", "start": 42968035, "end": 42980502, "strand": "-", "slug": "ptges3l" }, { "symbol": "RUNDC1", "ensemblId": "ENSG00000198863", "biotype": "protein_coding", "start": 42980552, "end": 42995142, "strand": "+", "slug": "rundc1" }, { "symbol": "RPL27", "ensemblId": "ENSG00000131469", "biotype": "protein_coding", "start": 42998265, "end": 43002973, "strand": "+", "slug": "rpl27" }, { "symbol": "VAT1", "ensemblId": "ENSG00000108828", "biotype": "protein_coding", "start": 42999182, "end": 43025123, "strand": "-", "slug": "vat1" }, { "symbol": "IFI35", "ensemblId": "ENSG00000068079", "biotype": "protein_coding", "start": 43006740, "end": 43014638, "strand": "+", "slug": "ifi35" }, { "symbol": "RND2", "ensemblId": "ENSG00000108830", "biotype": "protein_coding", "start": 43025210, "end": 43047509, "strand": "+", "slug": "rnd2" }, { "symbol": "BRCA1", "ensemblId": "ENSG00000012048", "biotype": "protein_coding", "start": 43044292, "end": 43170245, "strand": "-", "slug": "brca1" }, { "symbol": "NBR1", "ensemblId": "ENSG00000188554", "biotype": "protein_coding", "start": 43170317, "end": 43211690, "strand": "+", "slug": "nbr1" }, { "symbol": "TMEM106A", "ensemblId": "ENSG00000184988", "biotype": "protein_coding", "start": 43211835, "end": 43220041, "strand": "+", "slug": "tmem106a" }, { "symbol": "CCDC200", "ensemblId": "ENSG00000236383", "biotype": "protein_coding", "start": 43216941, "end": 43305397, "strand": "-", "slug": "ccdc200" }, { "symbol": "ARL4D", "ensemblId": "ENSG00000175906", "biotype": "protein_coding", "start": 43398150, "end": 43408660, "strand": "+", "slug": "arl4d" } ], "truncated": false }, "reports": [ { "slug": "glycogen-storage-disease", "name": "Choroba spichrzeniowa glikogenu", "diseases": [ { "mondoId": "MONDO:0009287", "name": "Choroba spichrzeniowa glikogenu z powodu niedoboru glukozo-6-fosfatazy, typ Ia", "genes": 1, "inheritance": "autosomal-recessive", "description": "Glikogenoza z powodu niedoboru glukozo-6-fosfatazy (G6P) typu a, czyli choroba spichrzeniowa glikogenu (GSD) typu 1a, to rodzaj glikogenozy spowodowanej niedoborem G6P.", "management": "Częste posiłki i surowa skrobia kukurydziana; nocne dożołądkowe dokarmianie kroplowe; empagliflozyna w leczeniu neutropenii typu Ib; allopurynol w leczeniu hiperurykemii; leczenie obniżające stężenie lipidów; monitorowanie gruczolaków wątroby; kontrola czynności nerek; przeszczep wątroby w przypadkach opornych na leczenie lub przy raku wątrobowokomórkowym", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0002413", "name": "Glikogenoza typu I", "genes": 2, "inheritance": "autosomal-recessive", "description": "Wywoływana przez warianty w genach G6PC1 (typ Ia) lub SLC37A4 (typ Ib), które powodują niski poziom cukru we krwi między posiłkami, powiększenie wątroby oraz, w typie Ib, niską liczbę neutrofilów i infekcje.", "management": "Znajomość rozpoznania pozwala na częste posiłki z wolno uwalnianą skrobią, a w typie Ib na leczenie neutropenii, co zapobiega niebezpiecznie niskiemu poziomowi cukru we krwi.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/glycogen-storage-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "protuberant-abdomen", "name": "Belly sticks out", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/protuberant-abdomen" }, { "slug": "abnormal-bleeding", "name": "Bleeding tendency", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/abnormal-bleeding" }, { "slug": "decreased-glomerular-filtration-rate", "name": "Decreased glomerular filtration rate", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/decreased-glomerular-filtration-rate" }, { "slug": "decreased-muscle-mass", "name": "Decreased muscle mass", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/decreased-muscle-mass" }, { "slug": "delayed-puberty", "name": "Delayed puberty", "systems": [ "abnormality-of-the-endocrine-system", "growth-abnormality" ], "url": "https://dantelabs.com/traits/delayed-puberty" }, { "slug": "doll-like-facies", "name": "Doll-like facial appearance", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/doll-like-facies" }, { "slug": "hyperlipidemia", "name": "Elevated lipids in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperlipidemia" }, { "slug": "enlarged-kidney", "name": "Enlarged kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/enlarged-kidney" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "xanthelasma", "name": "Fatty deposits in skin around the eyes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/xanthelasma" }, { "slug": "focal-segmental-glomerulosclerosis", "name": "Focal segmental glomerulosclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis" }, { "slug": "gout", "name": "Gout", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/gout" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hepatocellular-carcinoma", "name": "Hepatocellular carcinoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "url": "https://dantelabs.com/traits/hepatocellular-carcinoma" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "hyperuricemia", "name": "High blood uric acid level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperuricemia" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "intermittent-diarrhea", "name": "Intermittent diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/intermittent-diarrhea" }, { "slug": "kidney-stone", "name": "Kidney stone", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/kidney-stone" }, { "slug": "lipemia-retinalis", "name": "Lipemia retinalis", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/lipemia-retinalis" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "fasting-hypoglycemia", "name": "Low blood sugar when fasting", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fasting-hypoglycemia" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "pancreatitis", "name": "Pancreatic inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/pancreatitis" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "xanthomatosis", "name": "Yellow bumps of fatty deposits on skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/xanthomatosis" } ], "related": [ { "slug": "slc37a4", "symbol": "SLC37A4", "name": "solute carrier family 37 member 4", "shared": 1, "url": "https://dantelabs.com/pl/genes/slc37a4" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }