{ "url": "https://dantelabs.com/nl/genes/ttbk2", "gene": { "slug": "ttbk2", "symbol": "TTBK2", "name": "tau tubulin kinase 2", "hgnc": "HGNC:19141", "summary": null, "location": "15q15.2", "locusType": "gene with protein product", "aliases": [ "KIAA0847" ], "previousSymbols": [ "SCA11" ], "ensemblId": "ENSG00000128881", "entrezId": 146057, "omim": [ "611695" ], "uniprot": [ "Q6IQ55" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 42738730, "end": 42920778, "strand": "-", "ensemblTranscript": "ENST00000267890.11", "refseqTranscript": "NM_173500.4", "ensemblProtein": "ENSP00000267890.6", "refseqProtein": "NP_775771.3", "exons": [ { "start": 42738730, "end": 42746257 }, { "start": 42751974, "end": 42753247 }, { "start": 42775135, "end": 42775723 }, { "start": 42777031, "end": 42777242 }, { "start": 42783419, "end": 42783635 }, { "start": 42794644, "end": 42794801 }, { "start": 42810614, "end": 42810739 }, { "start": 42811688, "end": 42811780 }, { "start": 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43276271, "end": 43302255, "strand": "-", "slug": "tgm7" }, { "symbol": "LCMT2", "ensemblId": "ENSG00000168806", "biotype": "protein_coding", "start": 43323649, "end": 43330582, "strand": "-", "slug": "lcmt2" }, { "symbol": "MAPDA", "ensemblId": "ENSG00000168803", "biotype": "protein_coding", "start": 43329654, "end": 43355418, "strand": "+", "slug": "mapda" } ], "truncated": false }, "reports": [ { "slug": "autosomal-dominant-cerebellar-ataxias", "name": "Autosomale dominante cerebellaire ataxieën (SCA's en DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "Autosomale dominante cerebellaire ataxie", "genes": 36, "inheritance": "autosomal-dominant", "description": "Een groep dominant overerfbare ataxieën, waaronder SCA1, SCA2, SCA3 (ziekte van Machado-Joseph), SCA6, SCA7, SCA17, SCA27B en DRPLA, veroorzaakt door herhalingsexpansies of puntvarianten in genen zoals ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 en FGF14.", "management": "Genetische counseling en presymptomatisch onderzoek voor familieleden, fysiotherapie en symptoombehandeling; sommige vormen, zoals SCA27B, kunnen reageren op specifieke medicatie.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/autosomal-dominant-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "gait-imbalance", "name": "Abnormality of balance", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gait-imbalance" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "horizontal-nystagmus", "name": "Horizontal nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/horizontal-nystagmus" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "truncal-ataxia", "name": "Instability or lack of coordination of central trunk muscles", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/truncal-ataxia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "jerky-ocular-pursuit-movements", "name": "Jerky ocular pursuit movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/jerky-ocular-pursuit-movements" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "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": "vertical-nystagmus", "name": "Vertical nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/vertical-nystagmus" } ], "related": [ { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/afg3l2" }, { "slug": "atn1", "symbol": "ATN1", "name": "atrophin 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/atn1" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/atp1a3" }, { "slug": "atxn1", "symbol": "ATXN1", "name": "ataxin 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/atxn1" }, { "slug": "atxn10", "symbol": "ATXN10", "name": "ataxin 10", "shared": 1, "url": "https://dantelabs.com/nl/genes/atxn10" }, { "slug": "atxn2", "symbol": "ATXN2", "name": "ataxin 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/atxn2" }, { "slug": "atxn3", "symbol": "ATXN3", "name": "ataxin 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/atxn3" }, { "slug": "atxn7", "symbol": "ATXN7", "name": "ataxin 7", "shared": 1, "url": "https://dantelabs.com/nl/genes/atxn7" }, { "slug": "bean1", "symbol": "BEAN1", "name": "brain expressed associated with NEDD4 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/bean1" }, { "slug": "cacna1a", "symbol": "CACNA1A", "name": "calcium voltage-gated channel subunit alpha1 A", "shared": 1, "url": "https://dantelabs.com/nl/genes/cacna1a" }, { "slug": "cacna1g", "symbol": "CACNA1G", "name": "calcium voltage-gated channel subunit alpha1 G", "shared": 1, "url": "https://dantelabs.com/nl/genes/cacna1g" }, { "slug": "camta1", "symbol": "CAMTA1", "name": "calmodulin binding transcription activator 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/camta1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }