{ "url": "https://dantelabs.com/nl/genes/slc5a1", "gene": { "slug": "slc5a1", "symbol": "SLC5A1", "name": "solute carrier family 5 member 1", "hgnc": "HGNC:11036", "summary": null, "location": "22q12.3", "locusType": "gene with protein product", "aliases": [ "D22S675", "NAGT", "SGLT-1" ], "previousSymbols": [ "SGLT1" ], "ensemblId": "ENSG00000100170", "entrezId": 6523, "omim": [ "182380" ], "uniprot": [ "P13866" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "22", "start": 32043261, "end": 32113029, "strand": "+", "ensemblTranscript": "ENST00000266088.9", "refseqTranscript": "NM_000343.4", "ensemblProtein": "ENSP00000266088.4", "refseqProtein": "NP_000334.1", "exons": [ { "start": 32043261, "end": 32043416 }, { "start": 32049943, "end": 32050014 }, { "start": 32066935, "end": 32067039 }, { "start": 32067967, "end": 32068026 }, { "start": 32068496, "end": 32068600 }, { "start": 32081866, "end": 32081971 }, { "start": 32083074, "end": 32083154 }, { "start": 32084439, "end": 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"symbol": "DEPDC5", "ensemblId": "ENSG00000100150", "biotype": "protein_coding", "start": 31753867, "end": 31908033, "strand": "+", "slug": "depdc5" }, { "symbol": "", "ensemblId": "ENSG00000285404", "biotype": "protein_coding", "start": 31754899, "end": 31956243, "strand": "+" }, { "symbol": "YWHAH", "ensemblId": "ENSG00000128245", "biotype": "protein_coding", "start": 31944465, "end": 31957603, "strand": "+", "slug": "ywhah" }, { "symbol": "C22orf42", "ensemblId": "ENSG00000205856", "biotype": "protein_coding", "start": 32149006, "end": 32159322, "strand": "-", "slug": "c22orf42" }, { "symbol": "RFPL2", "ensemblId": "ENSG00000128253", "biotype": "protein_coding", "start": 32190433, "end": 32205073, "strand": "-", "slug": "rfpl2" }, { "symbol": "SLC5A4", "ensemblId": "ENSG00000100191", "biotype": "protein_coding", "start": 32216637, "end": 32255347, "strand": "-", "slug": "slc5a4" }, { "symbol": "RFPL3", "ensemblId": "ENSG00000128276", "biotype": "protein_coding", "start": 32354885, "end": 32361161, "strand": "+", "slug": "rfpl3" }, { "symbol": "RTCB", "ensemblId": "ENSG00000100220", "biotype": "protein_coding", "start": 32387575, "end": 32412265, "strand": "-", "slug": "rtcb" }, { "symbol": "BPIFC", "ensemblId": "ENSG00000184459", "biotype": "protein_coding", "start": 32413845, "end": 32464484, "strand": "-", "slug": "bpifc" }, { "symbol": "FBXO7", "ensemblId": "ENSG00000100225", "biotype": "protein_coding", "start": 32474676, "end": 32499787, "strand": "+", "slug": "fbxo7" }, { "symbol": "SYN3", "ensemblId": "ENSG00000185666", "biotype": "protein_coding", "start": 32507820, "end": 33058388, "strand": "-", "slug": "syn3" } ], "truncated": false }, "reports": [ { "slug": "congenital-diarrhoeas-and-enteropathies", "name": "Aangeboren diarree en enteropathieën", "diseases": [ { "mondoId": "MONDO:0000824", "name": "Aangeboren diarree", "genes": 12, "inheritance": null, "description": "Erfelijke aandoeningen, waaronder aangeboren chloridediarree (SLC26A3), microvillus-inclusieziekte (MYO5B), tufting-enteropathie (EPCAM) en aangeboren natriumdiarree (SPINT2, SLC9A3), die chronische diarree veroorzaken vanaf de vroege zuigelingenleeftijd.", "management": "Een specifieke diagnose stuurt de behandeling, zoals vervanging van elektrolyten bij chloridediarree, of vroegtijdige planning van parenterale voeding of darmtransplantatie bij microvillus-inclusieziekte en tufting-enteropathie.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/congenital-diarrhoeas-and-enteropathies" }, { "slug": "glucose-galactose-malabsorption", "name": "Glucose-galactosemalabsorptie", "diseases": [ { "mondoId": "MONDO:0011731", "name": "Glucose-galactosemalabsorptie", "genes": 1, "inheritance": "autosomal-recessive", "description": null, "management": null, "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/glucose-galactose-malabsorption" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-distention", "name": "Abdominal bloating", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abdominal-distention" }, { "slug": "abnormal-oral-glucose-tolerance", "name": "Abnormal oral glucose tolerance", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/abnormal-oral-glucose-tolerance" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "dehydration", "name": "Dehydration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dehydration" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/fever" }, { "slug": "glycosuria", "name": "Glucose in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/glycosuria" }, { "slug": "hypercalcemia", "name": "High blood calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypercalcemia" }, { "slug": "hypernatremia", "name": "High blood sodium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypernatremia" }, { "slug": "hypertonic-dehydration", "name": "Hypertonic dehydration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertonic-dehydration" }, { "slug": "hyperactive-bowel-sounds", "name": "Increased bowel sounds", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperactive-bowel-sounds" }, { "slug": "kidney-stone", "name": "Kidney stone", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kidney-stone" }, { "slug": "malabsorption", "name": "Malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/malabsorption" }, { "slug": "malnutrition", "name": "Malnutrition", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/malnutrition" }, { "slug": "metabolic-acidosis", "name": "Metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/metabolic-acidosis" }, { "slug": "osmotic-diarrhea", "name": "Osmotic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/osmotic-diarrhea" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/weight-loss" } ], "related": [ { "slug": "dgat1", "symbol": "DGAT1", "name": "diacylglycerol O-acyltransferase 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/dgat1" }, { "slug": "epcam", "symbol": "EPCAM", "name": "epithelial cell adhesion molecule", "shared": 1, "url": "https://dantelabs.com/nl/genes/epcam" }, { "slug": "gucy2c", "symbol": "GUCY2C", "name": "guanylate cyclase 2C", "shared": 1, "url": "https://dantelabs.com/nl/genes/gucy2c" }, { "slug": "myo5b", "symbol": "MYO5B", "name": "myosin VB", "shared": 1, "url": "https://dantelabs.com/nl/genes/myo5b" }, { "slug": "neurog3", "symbol": "NEUROG3", "name": "neurogenin 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/neurog3" }, { "slug": "plvap", "symbol": "PLVAP", "name": "plasmalemma vesicle associated protein", "shared": 1, "url": "https://dantelabs.com/nl/genes/plvap" }, { "slug": "slc26a3", "symbol": "SLC26A3", "name": "solute carrier family 26 member 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/slc26a3" }, { "slug": "slc9a3", "symbol": "SLC9A3", "name": "solute carrier family 9 member A3", "shared": 1, "url": "https://dantelabs.com/nl/genes/slc9a3" }, { "slug": "spint2", "symbol": "SPINT2", "name": "serine peptidase inhibitor, Kunitz type 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/spint2" }, { "slug": "stx3", "symbol": "STX3", "name": "syntaxin 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/stx3" }, { "slug": "wnt2b", "symbol": "WNT2B", "name": "Wnt family member 2B", "shared": 1, "url": "https://dantelabs.com/nl/genes/wnt2b" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }