Disease browser and phenotype portal

About
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

Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Jervell-Lange Nielsen Syndrome (D029593)
..Starting node ..Jervell And Lange-Nielsen Syndrome 2 (C567343)
Child Nodes:
Sister Nodes:
..Jervell And Lange-Nielsen Syndrome 2 (C567343)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5962

Name:

Jervell And Lange-Nielsen Syndrome 2

Definition:

Alternative IDs:

OMIM:612347

ParentIDs:

MESH:D029593

TreeNumbers:

C14.280.067.565.440/C567343 |C16.131.240.400.715.440/C567343

Synonyms:

Jlns2

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: C567343
MeSH: C567343
OMIM: 612347;

Genes: KCNE1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008527	Congenital sensorineural hearing impairment
3	HP:0001425	Heterogeneous
4	HP:0001657	Prolonged QT interval
5	HP:0001645	Sudden cardiac death
6	HP:0001279	Syncope
7	HP:0001664	Torsade de pointes

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000219.5(KCNE1):c.226G>A (p.Asp76Asn)	3753	KCNE1	Likely pathogenic;Pathogenic	74315445	RCV000148512; RCV000014419; RCV000014420; RCV000222568; RCV000119080;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1867904,OMIM:613695; MedGen:C2676723,OMIM:612347; MedGen:CN034131,OMIM:220400; MedGen:CN221809	21	35821707	35821707	NM_000219.5:c.226G>A	NP_000210.2:p.Asp76Asn	NC_000021.8:g.35821707C>T	OMIM Allelic Variant:176261.0003	C1141890 Congenital long QT syndrome; CN034131 220400 Jervell and Lange-Nielsen syndrome 1; C2676723 612347 Jervell and Lange-Nielsen syndrome 2; C1867904 613695 Long QT syndrome 5; CN221809 not provided
NM_000219.5(KCNE1):c.172_177delACCCTGinsCCCCCT (p.Thr58_Leu59delinsProPro)	3753	KCNE1	Pathogenic	281865421	RCV000014417;	N	MedGen:C2676723,OMIM:612347	21	35821756	35821761	NM_000219.5:c.172_177delACCCTGinsCCCCCT	NP_000210.2:p.Thr58_Leu59delinsProPro	NC_000021.8:g.35821756_35821761delCAGGGTinsAGGGGG	OMIM Allelic Variant:176261.0001	C2676723 612347 Jervell and Lange-Nielsen syndrome 2
NM_000219.5(KCNE1):c.20C>T (p.Thr7Ile)	3753	KCNE1	Pathogenic	28933384	RCV000014418; RCV000119076;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C2676723,OMIM:612347	21	35821913	35821913	NM_000219.5:c.20C>T	NP_000210.2:p.Thr7Ile	NC_000021.8:g.35821913G>A	OMIM Allelic Variant:176261.0002	C1141890 Congenital long QT syndrome; C2676723 612347 Jervell and Lange-Nielsen syndrome 2