{ "url": "https://dantelabs.com/tr/genes/snap25", "gene": { "slug": "snap25", "symbol": "SNAP25", "name": "synaptosome associated protein 25", "hgnc": "HGNC:11132", "summary": null, "location": "20p12.2", "locusType": "gene with protein product", "aliases": [ "SNAP-25", "RIC-4", "RIC4", "SEC9", "bA416N4.2", "dJ1068F16.2" ], "previousSymbols": [ "SNAP" ], "ensemblId": "ENSG00000132639", "entrezId": 6616, "omim": [ "600322" ], "uniprot": [ "P60880" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 10218830, "end": 10307418, "strand": "+", "ensemblTranscript": "ENST00000254976.7", "refseqTranscript": "NM_130811.4", "ensemblProtein": "ENSP00000254976.3", "refseqProtein": "NP_570824.1", "exons": [ { "start": 10218830, "end": 10218977 }, { "start": 10275429, "end": 10275563 }, { "start": 10277685, "end": 10277726 }, { "start": 10284724, "end": 10284772 }, { "start": 10293161, "end": 10293278 }, { "start": 10296925, "end": 10297050 }, { "start": 10299268, "end": 10299412 }, { "start": 10306129, "end": 10307418 } ], "cds": { "start": 10275492, "end": 10306197 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "20", "start": 10199478, "end": 10288066, "strand": "+" }, "neighbourhood": { "release": "116", "start": 9763124, "end": 10763123, "genes": [ { "symbol": "PAK5", "ensemblId": "ENSG00000101349", "biotype": "protein_coding", "start": 9537370, "end": 9839076, "strand": "-", "slug": "pak5" }, { "symbol": "ANKEF1", "ensemblId": "ENSG00000132623", "biotype": "protein_coding", "start": 9986126, "end": 10059414, "strand": "+", "slug": "ankef1" }, { "symbol": "MKKS", "ensemblId": "ENSG00000125863", "biotype": "protein_coding", "start": 10401009, "end": 10434236, "strand": "-", "slug": "mkks" }, { "symbol": "", "ensemblId": "ENSG00000285508", "biotype": "protein_coding", "start": 10411653, "end": 10434236, "strand": "-" }, { "symbol": "", "ensemblId": "ENSG00000285723", "biotype": "protein_coding", "start": 10411653, "end": 10434236, "strand": "-" }, { "symbol": "SLX4IP", "ensemblId": "ENSG00000149346", "biotype": "protein_coding", "start": 10434668, "end": 10638912, "strand": "+", "slug": "slx4ip" }, { "symbol": "JAG1", "ensemblId": "ENSG00000101384", "biotype": "protein_coding", "start": 10637684, "end": 10674396, "strand": "-", "slug": "jag1" } ], "truncated": false }, "reports": [ { "slug": "congenital-myasthenic-syndrome", "name": "Konjenital Miyastenik Sendrom", "diseases": [ { "mondoId": "MONDO:0018940", "name": "Konjenital Miyasteni Sendromu (Tüm Tipler)", "genes": 27, "inheritance": null, "description": "Yaygın CHRNE, RAPSN, DOK7 ve MUSK formları dahil olmak üzere tüm konjenital miyasteni sendromlarını kapsayan üst başlık.", "management": "Birçok form piridostigmin, salbutamol veya efedrin gibi belirli ilaçlara yanıt verir ve doğru seçim, ilgili gene bağlıdır.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/congenital-myasthenic-syndrome" }, { "slug": "epilepsy-report", "name": "Epilepsi (Tam Panel)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsi", "genes": 171, "inheritance": null, "description": "Nöronal deşarjın anormal şekilde artmasıyla ortaya çıkan, geçici duyusal veya motor nörolojik işlev bozukluğu ya da psişik işlev bozukluğuyla seyreden bir beyin hastalığıdır. Bu nöbetler bilinç kaybı veya konvülsiyonlarla birlikte olabilir ya da olmayabilir.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/epilepsy-report" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "echolalia", "name": "Echoing another person's speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/echolalia" }, { "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": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "knee-flexion-contracture", "name": "Inability to straighten knee", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/knee-flexion-contracture" }, { "slug": "decreased-fetal-movement", "name": "Less than 10 fetal movements in 12 hours", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-fetal-movement" }, { "slug": "neonatal-respiratory-distress", "name": "Neonatal respiratory distress", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/neonatal-respiratory-distress" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/poor-speech" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "name": "4-aminobutyrate aminotransferase", "shared": 1, "url": "https://dantelabs.com/tr/genes/abat" }, { "slug": "actl6b", "symbol": "ACTL6B", "name": "actin like 6B", "shared": 1, "url": "https://dantelabs.com/tr/genes/actl6b" }, { "slug": "adam22", "symbol": "ADAM22", "name": "ADAM metallopeptidase domain 22", "shared": 1, "url": "https://dantelabs.com/tr/genes/adam22" }, { "slug": "agrn", "symbol": "AGRN", "name": "agrin", "shared": 1, "url": "https://dantelabs.com/tr/genes/agrn" }, { "slug": "aldh7a1", "symbol": "ALDH7A1", "name": "aldehyde dehydrogenase 7 family member A1", "shared": 1, "url": "https://dantelabs.com/tr/genes/aldh7a1" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/tr/genes/alg13" }, { "slug": "alg14", "symbol": "ALG14", "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/tr/genes/alg14" }, { "slug": "alg2", "symbol": "ALG2", "name": "ALG2 alpha-1,3/1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/tr/genes/alg2" }, { "slug": "ap3b2", "symbol": "AP3B2", "name": "adaptor related protein complex 3 subunit beta 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/ap3b2" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/tr/genes/arhgef9" }, { "slug": "arv1", "symbol": "ARV1", "name": "ARV1 fatty acid homeostasis modulator", "shared": 1, "url": "https://dantelabs.com/tr/genes/arv1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }