{ "url": "https://dantelabs.com/tr/genes/atxn7", "gene": { "slug": "atxn7", "symbol": "ATXN7", "name": "ataxin 7", "hgnc": "HGNC:10560", "summary": null, "location": "3p14.1", "locusType": "gene with protein product", "aliases": [ "OPCA3", "ADCAII", "SGF73" ], "previousSymbols": [ "SCA7" ], "ensemblId": "ENSG00000163635", "entrezId": 6314, "omim": [ "607640" ], "uniprot": [ "O15265" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 63863867, "end": 64003462, "strand": "+", "ensemblTranscript": "ENST00000674280.1", "refseqTranscript": "NM_001377405.1", "ensemblProtein": "ENSP00000501377.1", "refseqProtein": "NP_001364334.1", "exons": [ { "start": 63863867, "end": 63864158 }, { "start": 63898399, "end": 63898497 }, { "start": 63912588, "end": 63912923 }, { "start": 63913157, "end": 63913225 }, { "start": 63952379, "end": 63952483 }, { "start": 63979915, "end": 63980167 }, { "start": 63982186, "end": 63982445 }, { "start": 63982939, "end": 63983021 }, { "start": 63988059, "end": 63988324 }, { "start": 63990176, "end": 63990374 }, { "start": 63990738, "end": 63990859 }, { "start": 63995505, "end": 63996483 }, { "start": 63999450, "end": 64003462 } ], "cds": { "start": 63912599, "end": 63999467 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 63850233, "end": 63989138, "strand": "+" }, "neighbourhood": { "release": "116", "start": 63433665, "end": 64433664, "genes": [ { "symbol": "SYNPR", "ensemblId": "ENSG00000163630", "biotype": "protein_coding", "start": 63228315, "end": 63616924, "strand": "+", "slug": "synpr" }, { "symbol": "SNTN", "ensemblId": "ENSG00000188817", "biotype": "protein_coding", "start": 63652664, "end": 63679020, "strand": "+", "slug": "sntn" }, { "symbol": "C3orf49", "ensemblId": "ENSG00000163632", "biotype": "protein_coding", "start": 63819299, "end": 63848636, "strand": "+", "slug": "c3orf49" }, { "symbol": "THOC7", "ensemblId": "ENSG00000163634", "biotype": "protein_coding", "start": 63833870, "end": 63864350, "strand": "-", "slug": "thoc7" }, { "symbol": "PSMD6", "ensemblId": "ENSG00000163636", "biotype": "protein_coding", "start": 64010549, "end": 64024010, "strand": "-", "slug": "psmd6" }, { "symbol": "PRICKLE2", "ensemblId": "ENSG00000163637", "biotype": "protein_coding", "start": 64092236, "end": 64445476, "strand": "-", "slug": "prickle2" } ], "truncated": false }, "reports": [ { "slug": "autosomal-dominant-cerebellar-ataxias", "name": "Otozomal Dominant Serebellar Ataksiler (SCA'lar ve DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "Otozomal Dominant Serebellar Ataksi", "genes": 36, "inheritance": "autosomal-dominant", "description": "SCA1, SCA2, SCA3 (Machado-Joseph hastalığı), SCA6, SCA7, SCA17, SCA27B ve DRPLA dahil olmak üzere, ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 ve FGF14 gibi genlerdeki tekrar genişlemeleri veya nokta varyantları nedeniyle ortaya çıkan, dominant kalıtımlı ataksiler grubu.", "management": "Genetik danışmanlık ve yakın akrabalar için semptom öncesi test, fizyoterapi ve semptom yönetimi; SCA27B gibi bazı formlar belirli ilaç tedavisine yanıt verebilir.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/autosomal-dominant-cerebellar-ataxias" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Kalıtsal Nörodejeneratif Hastalıklar", "diseases": [ { "mondoId": "MONDO:0024237", "name": "KIF5A ile İlişkili Nörodejeneratif Hastalık", "genes": 372, "inheritance": "autosomal-dominant", "description": "KIF5A genindeki bir kopyadaki değişikliklerden kaynaklanır. Bu gen, yük bağlayıcı bir kuyruğa sahip motor bir proteini kodlar. Farklı tipteki değişiklikler farklı hastalıklara yol açar: herediter spastik paraplejinin 10. tipi, Charcot-Marie-Tooth hastalığının aksonal bir formu ve amyotrofik lateral skleroz (ALS).", "management": "Tedavi semptomlara yöneliktir ve tabloya bağlıdır; fizyoterapi, antispastisite ilaçları ve multidisipliner ALS bakımını içerir. Etkilenmiş bir kişinin her çocuğunun bu değişikliği miras alma olasılığı 2'de 1'dir; genetik danışmanlık ailelerin bunu anlamasına yardımcı olur.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/inherited-neurodegenerative-disorders-selected-genes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-fundus-morphology", "name": "Abnormal fundus morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-fundus-morphology" }, { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "chorea", "name": "Chorea", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/chorea" }, { "slug": "cone-cone-rod-dystrophy", "name": "Cone/cone-rod dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cone-cone-rod-dystrophy" }, { "slug": "hemeralopia", "name": "Day blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemeralopia" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dysdiadochokinesis", "name": "Difficulty performing quick and alternating movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysdiadochokinesis" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "ophthalmoplegia", "name": "Eye muscle paralysis", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ophthalmoplegia" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "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": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "neonatal-hypotonia", "name": "Low muscle tone, in neonatal onset", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neonatal-hypotonia" }, { "slug": "macular-degeneration", "name": "Macular degeneration", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macular-degeneration" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "olivopontocerebellar-atrophy", "name": "Olivopontocerebellar atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/olivopontocerebellar-atrophy" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "orofacial-dyskinesia", "name": "Orofacial dyskinesia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/orofacial-dyskinesia" }, { "slug": "pigmentary-retinopathy", "name": "Pigmentary retinopathy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/pigmentary-retinopathy" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "progressive-cerebellar-ataxia", "name": "Progressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia" }, { "slug": "progressive-visual-loss", "name": "Progressive loss of vision", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/progressive-visual-loss" }, { "slug": "psychosis", "name": "Psychosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/psychosis" }, { "slug": "slow-saccadic-eye-movements", "name": "Slow eye movements", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/slow-saccadic-eye-movements" }, { "slug": "somatic-sensory-dysfunction", "name": "Somatic sensory dysfunction", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction" }, { "slug": "supranuclear-ophthalmoplegia", "name": "Supranuclear ophthalmoplegia", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/supranuclear-ophthalmoplegia" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/visual-loss" }, { "slug": "ophthalmoparesis", "name": "Weakness of muscles controlling eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ophthalmoparesis" }, { "slug": "restless-legs", "name": "Willis-Ekbom disease", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/restless-legs" } ], "related": [ { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 2, "url": "https://dantelabs.com/tr/genes/afg3l2" }, { "slug": "atn1", "symbol": "ATN1", "name": "atrophin 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/atn1" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 2, "url": "https://dantelabs.com/tr/genes/atp1a3" }, { "slug": "atxn1", "symbol": "ATXN1", "name": "ataxin 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/atxn1" }, { "slug": "atxn10", "symbol": "ATXN10", "name": "ataxin 10", "shared": 2, "url": "https://dantelabs.com/tr/genes/atxn10" }, { "slug": "atxn2", "symbol": "ATXN2", "name": "ataxin 2", "shared": 2, "url": "https://dantelabs.com/tr/genes/atxn2" }, { "slug": "atxn3", "symbol": "ATXN3", "name": "ataxin 3", "shared": 2, "url": "https://dantelabs.com/tr/genes/atxn3" }, { "slug": "bean1", "symbol": "BEAN1", "name": "brain expressed associated with NEDD4 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/bean1" }, { "slug": "cacna1a", "symbol": "CACNA1A", "name": "calcium voltage-gated channel subunit alpha1 A", "shared": 2, "url": "https://dantelabs.com/tr/genes/cacna1a" }, { "slug": "cacna1g", "symbol": "CACNA1G", "name": "calcium voltage-gated channel subunit alpha1 G", "shared": 2, "url": "https://dantelabs.com/tr/genes/cacna1g" }, { "slug": "camta1", "symbol": "CAMTA1", "name": "calmodulin binding transcription activator 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/camta1" }, { "slug": "dab1", "symbol": "DAB1", "name": "DAB adaptor protein 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/dab1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }