Spinocerebellar Ataxia 8; Sca8

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Spinocerebellar Ataxia 8; Sca8

ATXN8
ATXN8OS

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Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 8; Sca8

Ataxia
Nystagmus
Spasticity
Peripheral neuropathy
Hyperreflexia
Dysarthria
Tremor
Dysphagia
Cerebellar atrophy
Dystonia

And another 25 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Spinocerebellar Ataxia 8; Sca8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Spinocerebellar ataxia 8 (SCA8, CTG/CAG expansion on ATXN80S/ATXN8 gene). By CGC Genetics (Portugal). ATXN8 Specificity 100 % Genes 50 %
Spinocerebellar ataxias SCA8, SCA10, SCA12 and SCA17 (expansion on genes ATXN8OS/ATXN8, ATXN10,PPP2R2B and TBP). By CGC Genetics (Portugal). ATXN10, ATXN8OS, TBP, ATXN8, PPP2R2B Specificity 40 % Genes 100 %
Spinocerebellar Ataxia Type 8. By MGZ Medical Genetics Center (Germany). ATXN8 Specificity 100 % Genes 50 %
Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA). By MNG Laboratories (Medical Neurogenetics, LLC.) (United States). ATXN1, ATXN10, ATXN2, ATXN7, TBP, CACNA1A, NOP56, ATN1, ATXN8, ATXN3, PPP2R2B Specificity 10 % Genes 50 %
Spinocerebellar ataxia 8. By MVZ Dortmund Dr. Eberhard & Partner (Germany). ATXN8 Specificity 100 % Genes 50 %
Spinocerebellar ataxia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain). SACS, ATXN1, ATXN10, ATXN2, ATXN7, SLC1A3, SPTBN2, TBP, TTPA, VLDLR, CACNA1A, NOP56, APTX, TGM6, COQ8A, SYNE1, PDSS1, TTBK2, PDSS2, COQ2 , (...) View the complete list with 17 more genes Panel complete gene list SACS, ATXN1, ATXN10, ATXN2, ATXN7, SLC1A3, SPTBN2, TBP, TTPA, VLDLR, CACNA1A, NOP56, APTX, TGM6, COQ8A, SYNE1, PDSS1, TTBK2, PDSS2, COQ2, COQ9, DNMT1, ATN1, AFG3L2, ATXN8, FGF14, FXN, SETX, IFRD1, ITPR1, KCNC3, KCND3, ATXN3, PDYN, POLG, PPP2R2B, PRKCG Specificity 3 % Genes 50 %
Exome. By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. (Brazil). RPL10, ATXN1, ATXN2, ATXN8OS, SEMA3E, GEMIN2, BRAF, BRCA1, BRCA2, SOX9, CDKL5, TBP, TGFB1, TP53, TSC1, TTR, UBE3A, SHANK2, SMNDC1, CDH1 , (...) View the complete list with 44 more genes Panel complete gene list RPL10, ATXN1, ATXN2, ATXN8OS, SEMA3E, GEMIN2, BRAF, BRCA1, BRCA2, SOX9, CDKL5, TBP, TGFB1, TP53, TSC1, TTR, UBE3A, SHANK2, SMNDC1, CDH1, CFTR, CCDC88C, CHD7, COL1A2, COL3A1, COL5A1, COL5A2, VKORC1, CYP2C19, CYP2C9, CYP2D6, PTCHD1, DMD, DMPK, AFG3L2, ATXN8, F8, F9, FBN1, FGFR3, FMR1, FXN, ALPL, HTT, HERC2, HFE, IDS, APC, IL1RN, ABCD1, IPW, KCND3, KRAS, MAGEL2, MAP2K1, MECP2, MEN1, MUTYH, NRAS, SERPINA1, PRKCG, PTEN, PTPN11, RET Specificity 4 % Genes 100 %
Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes. By Reference Laboratory Genetics (Spain). SACS, ATXN1, ATXN10, ATXN2, ATXN7, SPTBN2, TBP, TTPA, VLDLR, CACNA1A, NOP56, APTX, TGM6, COQ8A, SYNE1, PDSS1, TTBK2, PDSS2, COQ2, COQ9 , (...) View the complete list with 14 more genes Panel complete gene list SACS, ATXN1, ATXN10, ATXN2, ATXN7, SPTBN2, TBP, TTPA, VLDLR, CACNA1A, NOP56, APTX, TGM6, COQ8A, SYNE1, PDSS1, TTBK2, PDSS2, COQ2, COQ9, DNMT1, ATN1, AFG3L2, ATXN8, FGF14, FXN, SETX, ITPR1, KCNC3, ATXN3, PDYN, POLG, PPP2R2B, PRKCG Specificity 3 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

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