Gene: KCNJ11 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356618
rs80356618
KCNJ11
0.020 GeneticVariation BEFREE Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. 19169493

2008
dbSNP: rs80356618
rs80356618
KCNJ11
0.020 GeneticVariation BEFREE The severe DEND syndrome was seen with the novel C166F mutation and mild developmental delay with the V59M mutation. 16670688

2006
dbSNP: rs529884745
rs529884745
KCNJ11
0.010 GeneticVariation BEFREE Interestingly, V64M caused DEND (developmental delay, epilepsy, neonatal diabetes) syndrome in our patient, while mutation of the same residue (V64G) had been reported to cause congenital hyperinsulinism. 27681997

2017
dbSNP: rs80356611
rs80356611
KCNJ11
0.010 GeneticVariation BEFREE Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation. 25678012

2015
dbSNP: rs193929337
rs193929337
KCNJ11
0.010 GeneticVariation BEFREE Some mutations in this gene, including p.Q52R, are associated with the developmental delay, epilepsy, neonatal diabetes (DEND) syndrome. 24150202

2014
dbSNP: rs80356616
rs80356616
KCNJ11
0.010 GeneticVariation BEFREE The patient with the V59M mutation successfully switched from insulin injections to oral glibenclamide; 2 years of follow-up revealed that the patient had intermediate developmental delay, epilepsy and neonatal diabetes (DEND) syndrome. 22145471

2011
dbSNP: rs80356620
rs80356620
KCNJ11
0.010 GeneticVariation BEFREE We identified a novel Kir6.2 mutation (I167L) causing DEND syndrome. 17652641

2007