{ "url": "https://dantelabs.com/et/genes/sgpl1", "gene": { "slug": "sgpl1", "symbol": "SGPL1", "name": "sphingosine-1-phosphate lyase 1", "hgnc": "HGNC:10817", "summary": null, "location": "10q22.1", "locusType": "gene with protein product", "aliases": [ "SPL" ], "previousSymbols": [], "ensemblId": "ENSG00000166224", "entrezId": 8879, "omim": [ "603729" ], "uniprot": [ "O95470" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 70815948, "end": 70881184, "strand": "+", "ensemblTranscript": "ENST00000373202.8", "refseqTranscript": "NM_003901.4", "ensemblProtein": "ENSP00000362298.3", "refseqProtein": "NP_003892.2", "exons": [ { "start": 70815948, "end": 70816126 }, { "start": 70816811, "end": 70816880 }, { "start": 70844473, "end": 70844638 }, { "start": 70851143, "end": 70851210 }, { "start": 70854708, "end": 70854855 }, { "start": 70857614, "end": 70857690 }, { "start": 70859371, "end": 70859499 }, { "start": 70868345, "end": 70868433 }, { "start": 70869792, "end": 70869897 }, { "start": 70871048, "end": 70871146 }, { "start": 70871837, "end": 70871986 }, { "start": 70873351, "end": 70873589 }, { "start": 70875402, "end": 70875548 }, { "start": 70876541, "end": 70876661 }, { "start": 70877195, "end": 70881184 } ], "cds": { "start": 70816854, "end": 70877335 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "10", "start": 72575717, "end": 72640930, "strand": "+" }, "neighbourhood": { "release": "116", "start": 70348566, "end": 71348565, "genes": [ { "symbol": "LRRC20", "ensemblId": "ENSG00000172731", "biotype": "protein_coding", "start": 70298970, "end": 70382650, "strand": "-", "slug": "lrrc20" }, { "symbol": "EIF4EBP2", "ensemblId": "ENSG00000148730", "biotype": "protein_coding", "start": 70404130, "end": 70428618, "strand": "+", "slug": "eif4ebp2" }, { "symbol": "NODAL", "ensemblId": "ENSG00000156574", "biotype": "protein_coding", "start": 70431936, "end": 70447951, "strand": "-", "slug": "nodal" }, { "symbol": "PALD1", "ensemblId": "ENSG00000107719", "biotype": "protein_coding", "start": 70477658, "end": 70668754, "strand": "+", "slug": "pald1" }, { "symbol": "PRF1", "ensemblId": "ENSG00000180644", "biotype": "protein_coding", "start": 70596401, "end": 70602788, "strand": "-", "slug": "prf1" }, { "symbol": "ADAMTS14", "ensemblId": "ENSG00000138316", "biotype": "protein_coding", "start": 70672367, "end": 70762441, "strand": "+", "slug": "adamts14" }, { "symbol": "TBATA", "ensemblId": "ENSG00000166220", "biotype": "protein_coding", "start": 70771238, "end": 70785401, "strand": "-", "slug": "tbata" }, { "symbol": "PCBD1", "ensemblId": "ENSG00000166228", "biotype": "protein_coding", "start": 70882280, "end": 70888616, "strand": "-", "slug": "pcbd1" }, { "symbol": "UNC5B", "ensemblId": "ENSG00000107731", "biotype": "protein_coding", "start": 71212523, "end": 71302885, "strand": "+", "slug": "unc5b" }, { "symbol": "SLC29A3", "ensemblId": "ENSG00000198246", "biotype": "protein_coding", "start": 71319232, "end": 71381423, "strand": "+", "slug": "slc29a3" } ], "truncated": false }, "reports": [ { "slug": "nephrotic-syndrome", "name": "Nefrootiline sündroom", "diseases": [ { "mondoId": "MONDO:0002331", "name": "Nefroos", "genes": 29, "inheritance": null, "description": "Neerude patoloogilised protsessid ilma põletikuliste ega kasvajaliste komponentideta. Nefroos võib olla esmane haigus või teiste haiguste sekundaarne tüsistus. Seda iseloomustab NEFROOTILINE SÜNDROOM, mis viitab PROTEINURIA ja HÜPOALBUMINEEMIA esinemisele koos kaasneva TURSEGA.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/et/conditions/nephrotic-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "adrenal-insufficiency", "name": "Adrenal insufficiency", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/adrenal-insufficiency" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "hypogonadism", "name": "Decreased activity of gonads", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hypogonadism" }, { "slug": "decreased-total-lymphocyte-count", "name": "Decreased blood lymphocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count" }, { "slug": "diffuse-mesangial-sclerosis", "name": "Diffuse mesangial sclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/diffuse-mesangial-sclerosis" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/edema" }, { "slug": "focal-segmental-glomerulosclerosis", "name": "Focal segmental glomerulosclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "ichthyosis", "name": "Ichthyosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ichthyosis" }, { "slug": "hypertriglyceridemia", "name": "Increased plasma triglycerides", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypertriglyceridemia" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "hypoalbuminemia", "name": "Low albumin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypoalbuminemia" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "mesangial-hypercellularity", "name": "Mesangial hypercellularity", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mesangial-hypercellularity" }, { "slug": "nephrotic-syndrome", "name": "Nephrotic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/nephrotic-syndrome" }, { "slug": "hyperpigmentation-of-the-skin", "name": "Patchy darkened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "podocyte-foot-process-effacement", "name": "Podocyte foot process effacement", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/podocyte-foot-process-effacement" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "micropenis", "name": "Short penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/micropenis" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "steroid-resistant-nephrotic-syndrome", "name": "Steroid-resistant nephrotic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/steroid-resistant-nephrotic-syndrome" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/cryptorchidism" } ], "related": [ { "slug": "actn4", "symbol": "ACTN4", "name": "actinin alpha 4", "shared": 1, "url": "https://dantelabs.com/et/genes/actn4" }, { "slug": "arhgdia", "symbol": "ARHGDIA", "name": "Rho GDP dissociation inhibitor alpha", "shared": 1, "url": "https://dantelabs.com/et/genes/arhgdia" }, { "slug": "coq6", "symbol": "COQ6", "name": "coenzyme Q6, monooxygenase", "shared": 1, "url": "https://dantelabs.com/et/genes/coq6" }, { "slug": "coq8b", "symbol": "COQ8B", "name": "coenzyme Q8B", "shared": 1, "url": "https://dantelabs.com/et/genes/coq8b" }, { "slug": "daam2", "symbol": "DAAM2", "name": "dishevelled associated activator of morphogenesis 2", "shared": 1, "url": "https://dantelabs.com/et/genes/daam2" }, { "slug": "dgke", "symbol": "DGKE", "name": "diacylglycerol kinase epsilon", "shared": 1, "url": "https://dantelabs.com/et/genes/dgke" }, { "slug": "dlc1", "symbol": "DLC1", "name": "DLC1 Rho GTPase activating protein", "shared": 1, "url": "https://dantelabs.com/et/genes/dlc1" }, { "slug": "emp2", "symbol": "EMP2", "name": "epithelial membrane protein 2", "shared": 1, "url": "https://dantelabs.com/et/genes/emp2" }, { "slug": "itsn1", "symbol": "ITSN1", "name": "intersectin 1", "shared": 1, "url": "https://dantelabs.com/et/genes/itsn1" }, { "slug": "itsn2", "symbol": "ITSN2", "name": "intersectin 2", "shared": 1, "url": "https://dantelabs.com/et/genes/itsn2" }, { "slug": "kank2", "symbol": "KANK2", "name": "KN motif and ankyrin repeat domains 2", "shared": 1, "url": "https://dantelabs.com/et/genes/kank2" }, { "slug": "lama5", "symbol": "LAMA5", "name": "laminin subunit alpha 5", "shared": 1, "url": "https://dantelabs.com/et/genes/lama5" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }