GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Jervell And Lange-Nielsen Syndrome(Jervell-Lange Nielsen syndrome)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Multisystemic disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 KCNQ1/3784 potassium voltage-gated channel subfamily Q member 1 11p15.5 Chr11, NC_000011.10
(2445008..2849105)
404098 nt 19 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 KCNE1/3753 potassium voltage-gated channel subfamily E regulatory subunit 1 21q22.12 Chr21, NC_000021.9
(34446688..34512210, complement)
65523 nt 7 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities