Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics, |
RCV002051780 | SCV002318395 | likely pathogenic | Neonatal diabetes mellitus | criteria provided, single submitter | clinical testing | ||
Clinical Genomics, |
RCV002227027 | SCV002506467 | benign | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. It is also associated with Neonatal Diabetes and insulin sensitivity. However, no sufficient evidence is found to ascertain the role of this particular variant (rs80356622) in MODY yet. | |
OMIM | RCV001089467 | SCV000029425 | pathogenic | Diabetes mellitus, permanent neonatal 2 | 2005-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000009207 | SCV000040735 | not provided | Permanent neonatal diabetes mellitus | no assertion provided | literature only |