MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: congenital disorder of glycosylation with epilepsy as a major feature (MONDO:0018287)
Parent Node: neuronal ceroid lipofuscinosis (MONDO:0016295)
Parent Node: progressive myoclonic epilepsy (MONDO:0020074)
..Starting node ..progressive myoclonic epilepsy type 3 ()
Child Nodes:
Sister Nodes:
..action myoclonus-renal failure syndrome ()
..adult neuronal ceroid lipofuscinosis ()
..early-onset Lafora body disease ()
..epilepsy, progressive myoclonic, 1B ()
..familial encephalopathy with neuroserpin inclusion bodies ()
..infantile neuronal ceroid lipofuscinosis ()
..juvenile neuronal ceroid lipofuscinosis ()
..Lafora disease ()
..late infantile neuronal ceroid lipofuscinosis ()
..MERRF syndrome () L: 00162;
..progressive myoclonic epilepsy type 3 ()
..progressive myoclonic epilepsy type 5 ()
..progressive myoclonic epilepsy type 6 ()
..progressive myoclonic epilepsy type 7 ()
..progressive myoclonic epilepsy type 8 ()
..progressive myoclonic epilepsy type 9 ()
..Unverricht-Lundborg syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Could not execute query 3
SELECT t5.Variation_Name, t5.GeneID, t5.GeneSymbol, t5.ClinicalSignificance, t5.dbSNP, t5.RCVaccession, t5.TestedInGTR, t5.PhenotypeIDs, t5.Chromosome, t5.Start, t5.Stop, t5.HGVS_c, t5.HGVS_p, t5.HGVS_g, t5.OtherIDs, t5.Diseases as Disease_ClinVar FROM gb_exome.clinvar_variation_v2_latest as t5 WHERE Assembly ='GRCh37' AND (t5.PhenotypeIDs like '%:611726%' OR t5.otherIDs like '%OMIM Allelic Variant:611726%' ) ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start;

Term ID:	12721
Name:	progressive myoclonic epilepsy type 3
Definition:	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.
Alternative IDs:	611726
ParentIDs:
TreeNumbers:
Synonyms:	ceroid lipofuscinosis, neuronal, 14; epilepsy progressive myoclonic type 3; epilepsy, progressive myoclonic, 3, with or without intracellular inclusions; epilepsy, progressive myoclonic, 3, with or without intracellular inclusions; EPM3; EPM 3; EPM3; KCTD7 progressive myoclonic epilepsy; PME type 3;
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: 611726; MSeqDR : Genes: KCTD7;