Spinocerebellar Ataxia 19; Sca19
Clinical Features
Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 19; Sca19
- Seizures
- Ataxia
- Nystagmus
- Cognitive impairment
- Hyperreflexia
- Dysarthria
- Tremor
- Dysphagia
- Cerebellar atrophy
- Hyporeflexia
And another 14 symptoms. If you need more information about this disease we can help you.
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.
Alternative names
Spinocerebellar Ataxia 19; Sca19 Is also known as sca22, spinocerebellar ataxia 22.
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 19; Sca19 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Ataxia, Comprehensive Evaluation.
By Athena Diagnostics Inc (United States).
SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)
View the complete list with 22 more genes
Specificity
3 %
Genes
100 % |
Ataxia, Supplemental Dominant Evaluation.
By Athena Diagnostics Inc (United States).
SLC1A3, SPTBN2, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PRKCG
Specificity
7 %
Genes
100 % |
Ataxia, Complete Dominant Evaluation.
By Athena Diagnostics Inc (United States).
ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)
View the complete list with 5 more genes
Specificity
4 %
Genes
100 % |
Brugada Syndrome Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SCN1B, SCN2B, SCN5A, CACNA1C, CACNB2, SLMAP, HCN4, TRPM4, SCN3B, GPD1L, ABCC9, KCND3, KCNE3, KCNH2, KCNJ8, PKP2
Specificity
7 %
Genes
100 % |
Comprehensive Cardiac Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)
View the complete list with 86 more genes
Specificity
1 %
Genes
100 % |
Atrial Fibrillation Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
SCN1B, SCN2B, SCN5A, SCN3B, GJA5, ABCC9, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, NPPA, NUP155
Specificity
7 %
Genes
100 % |
Brugada Syndrome Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
SCN1B, SCN2B, SCN5A, CACNA1C, CACNA2D1, CACNB2, SLMAP, HCN4, RANGRF, TRPM4, SCN3B, GPD1L, KCND3, KCNE3, KCNJ8
Specificity
7 %
Genes
100 % |
Cardiac Channelopathy Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TRDN, CACNA1C, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, SLMAP, HCN4, RANGRF, TRPM4, SCN3B, GPD1L, AKAP9 , (...)
View the complete list with 12 more genes
Specificity
4 %
Genes
100 % |
You can get up to 75 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL DUANE-RADIAL RAY SYNDROME; DRRS CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION; CAHTP MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 AL KAISSI SYNDROME; ALKAS