Sensory Ataxic Neuropathy-dysarthria-ophthalmoparesis Syndrome
Description
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.
Genes related to Sensory Ataxic Neuropathy-dysarthria-ophthalmoparesis Syndrome
- POLG
- TWNK
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
Sensory Ataxic Neuropathy-dysarthria-ophthalmoparesis Syndrome Is also known as sando.
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.Sensory Ataxic Neuropathy-dysarthria-ophthalmoparesis Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
POLG Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
POLG
Specificity
100 %
Genes
50 % |
POLG Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
POLG
Specificity
100 %
Genes
50 % |
POLG Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
POLG
Specificity
100 %
Genes
50 % |
POLG Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
POLG
Specificity
100 %
Genes
50 % |
mtDNA Depletion/Integrity Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
SLC25A4, SUCLA2, SUCLG1, SUCLG2, TWNK, TK2, MGME1, RRM2B, DGUOK, TYMP, MPV17, OPA1, OPA3, POLG, POLG2
Specificity
14 %
Genes
100 % |
PEO Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
SLC25A4, TWNK, MGME1, RRM2B, OPA1, OPA3, POLG, POLG2
Specificity
25 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
50 % |
You can get up to 252 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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