Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146109 | SCV000193326 | likely pathogenic | Neonatal insulin-dependent diabetes mellitus | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002226686 | SCV002505457 | uncertain significance | Neonatal hypoglycemia | criteria provided, single submitter | research | Mutations in KCNJ11 genes can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. This gene mutations are important triggers of transient neonatal diabetes too. However, the signficance of rs587783671 (p.E179A) in Transient Neonatal Diabetes mellitus and MODY remains inconclusive. |