{ "url": "https://dantelabs.com/lt/genes/slc25a1", "gene": { "slug": "slc25a1", "symbol": "SLC25A1", "name": "solute carrier family 25 member 1", "hgnc": "HGNC:10979", "summary": null, "location": "22q11.21", "locusType": "gene with protein product", "aliases": [ "CTP", "CIC" ], "previousSymbols": [ "SLC20A3" ], "ensemblId": "ENSG00000100075", "entrezId": 6576, "omim": [ "190315" ], "uniprot": [ "P53007" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "22", "start": 19175581, "end": 19178736, "strand": "-", "ensemblTranscript": "ENST00000215882.10", "refseqTranscript": "NM_005984.5", "ensemblProtein": "ENSP00000215882.5", "refseqProtein": "NP_005975.1", "exons": [ { "start": 19175581, "end": 19176244 }, { "start": 19176421, "end": 19176494 }, { "start": 19176578, "end": 19176693 }, { "start": 19176846, "end": 19176950 }, { "start": 19177120, "end": 19177204 }, { "start": 19177727, "end": 19177865 }, { "start": 19177942, "end": 19178041 }, { "start": 19178133, "end": 19178240 }, { "start": 19178580, "end": 19178736 } ], "cds": { "start": 19176130, "end": 19178673 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "22", "start": 19163095, "end": 19166343, "strand": "-" }, "neighbourhood": { "release": "116", "start": 18677159, "end": 19677158, "genes": [ { "symbol": "DGCR6", "ensemblId": "ENSG00000183628", "biotype": "protein_coding", "start": 18905677, "end": 18916623, "strand": "+", "slug": "dgcr6" }, { "symbol": "", "ensemblId": "ENSG00000283809", "biotype": "protein_coding", "start": 18906238, "end": 18947732, "strand": "+" }, { "symbol": "PRODH", "ensemblId": "ENSG00000100033", "biotype": "protein_coding", "start": 18912696, "end": 18936451, "strand": "-", "slug": "prodh" }, { "symbol": "FAM246C", "ensemblId": "ENSG00000286025", "biotype": "protein_coding", "start": 19029524, "end": 19031242, "strand": "+", "slug": "fam246c" }, { "symbol": "DGCR2", "ensemblId": "ENSG00000070413", "biotype": "protein_coding", "start": 19036280, "end": 19122461, "strand": "-", "slug": "dgcr2" }, { "symbol": "ESS2", "ensemblId": "ENSG00000100056", "biotype": "protein_coding", "start": 19130279, "end": 19144684, "strand": "-", "slug": "ess2" }, { "symbol": "TSSK2", "ensemblId": "ENSG00000206203", "biotype": "protein_coding", "start": 19131308, "end": 19132622, "strand": "+", "slug": "tssk2" }, { "symbol": "GSC2", "ensemblId": "ENSG00000063515", "biotype": "protein_coding", "start": 19146993, "end": 19150292, "strand": "-", "slug": "gsc2" }, { "symbol": "CLTCL1", "ensemblId": "ENSG00000070371", "biotype": "protein_coding", "start": 19179319, "end": 19291774, "strand": "-", "slug": "cltcl1" }, { "symbol": "HIRA", "ensemblId": "ENSG00000100084", "biotype": "protein_coding", "start": 19330185, "end": 19447450, "strand": "-", "slug": "hira" }, { "symbol": "C22orf39", "ensemblId": "ENSG00000242259", "biotype": "protein_coding", "start": 19351368, "end": 19447714, "strand": "-", "slug": "c22orf39" }, { "symbol": "MRPL40", "ensemblId": "ENSG00000185608", "biotype": "protein_coding", "start": 19431837, "end": 19436078, "strand": "+", "slug": "mrpl40" }, { "symbol": "UFD1", "ensemblId": "ENSG00000070010", "biotype": "protein_coding", "start": 19449899, "end": 19479695, "strand": "-", "slug": "ufd1" }, { "symbol": "CDC45", "ensemblId": "ENSG00000093009", "biotype": "protein_coding", "start": 19479457, "end": 19520612, "strand": "+", "slug": "cdc45" }, { "symbol": "CLDN5", "ensemblId": "ENSG00000184113", "biotype": "protein_coding", "start": 19517452, "end": 19527545, "strand": "-", "slug": "cldn5" } ], "truncated": false }, "reports": [ { "slug": "congenital-myasthenic-syndrome", "name": "Įgimtas miasteninis sindromas", "diseases": [ { "mondoId": "MONDO:0018940", "name": "Įgimtas miasteninis sindromas (visi tipai)", "genes": 27, "inheritance": null, "description": "Bendras terminas, apimantis visus įgimtus miasteninius sindromus, įskaitant dažnas CHRNE, RAPSN, DOK7 ir MUSK formas.", "management": "Daugelis formų gerai reaguoja į specifinius vaistus, pavyzdžiui, piridostigminą, salbutamolį ar efedriną, o tinkamas pasirinkimas priklauso nuo konkretaus geno.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/congenital-myasthenic-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" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "bulbar-palsy", "name": "Bulbar palsy", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bulbar-palsy" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "delayed-myelination", "name": "Delayed myelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/delayed-myelination" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "elevated-csf-d-2-hydroxyglutaric-acid-concentration", "name": "Elevated CSF D-2-hydroxyglutaric acid concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/elevated-csf-d-2-hydroxyglutaric-acid-concentration" }, { "slug": "elevated-csf-l-2-hydroxyglutaric-acid-concentration", "name": "Elevated CSF L-2-hydroxyglutaric acid concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/elevated-csf-l-2-hydroxyglutaric-acid-concentration" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "fatigable-weakness", "name": "Fatigable weakness", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fatigable-weakness" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "frequent-falls", "name": "Frequent falls", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/frequent-falls" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "increased-jitter-at-single-fiber-emg", "name": "Increased jitter at single fiber EMG", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-jitter-at-single-fiber-emg" }, { "slug": "calf-muscle-hypertrophy", "name": "Increased size of calf muscles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/calf-muscle-hypertrophy" }, { "slug": "increased-urine-alpha-ketoglutarate-concentration", "name": "Increased urine alpha-ketoglutarate concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-urine-alpha-ketoglutarate-concentration" }, { "slug": "increased-urine-succinate-level", "name": "Increased urine succinate level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-urine-succinate-level" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/irritability" }, { "slug": "l-2-hydroxyglutaric-aciduria", "name": "L-2-hydroxyglutaric aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/l-2-hydroxyglutaric-aciduria" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "neck-muscle-weakness", "name": "Neck muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/neck-muscle-weakness" }, { "slug": "stridor", "name": "Noisy breathing", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/stridor" }, { "slug": "reduced-eye-contact", "name": "Poor eye contact", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/reduced-eye-contact" }, { "slug": "poor-suck", "name": "Poor suck", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-suck" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "severe-muscular-hypotonia", "name": "Severely decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/severe-muscular-hypotonia" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "easy-fatigability", "name": "Tired easily", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/easy-fatigability" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/ventriculomegaly" } ], "related": [ { "slug": "agrn", "symbol": "AGRN", "name": "agrin", "shared": 1, "url": "https://dantelabs.com/lt/genes/agrn" }, { "slug": "alg14", "symbol": "ALG14", "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/lt/genes/alg14" }, { "slug": "alg2", "symbol": "ALG2", "name": "ALG2 alpha-1,3/1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/lt/genes/alg2" }, { "slug": "chat", "symbol": "CHAT", "name": "choline O-acetyltransferase", "shared": 1, "url": "https://dantelabs.com/lt/genes/chat" }, { "slug": "chrna1", "symbol": "CHRNA1", "name": "cholinergic receptor nicotinic alpha 1 subunit", "shared": 1, "url": "https://dantelabs.com/lt/genes/chrna1" }, { "slug": "chrnb1", "symbol": "CHRNB1", "name": "cholinergic receptor nicotinic beta 1 subunit", "shared": 1, "url": "https://dantelabs.com/lt/genes/chrnb1" }, { "slug": "chrnd", "symbol": "CHRND", "name": "cholinergic receptor nicotinic delta subunit", "shared": 1, "url": "https://dantelabs.com/lt/genes/chrnd" }, { "slug": "chrne", "symbol": "CHRNE", "name": "cholinergic receptor nicotinic epsilon subunit", "shared": 1, "url": "https://dantelabs.com/lt/genes/chrne" }, { "slug": "col13a1", "symbol": "COL13A1", "name": "collagen type XIII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/lt/genes/col13a1" }, { "slug": "colq", "symbol": "COLQ", "name": "collagen like tail subunit of asymmetric acetylcholinesterase", "shared": 1, "url": "https://dantelabs.com/lt/genes/colq" }, { "slug": "dok7", "symbol": "DOK7", "name": "docking protein 7", "shared": 1, "url": "https://dantelabs.com/lt/genes/dok7" }, { "slug": "dpagt1", "symbol": "DPAGT1", "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/dpagt1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }