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Neonatal diabetes v2.4 | ABCC8 | Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v2.4 | ABCC8 | Ivone Leong Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Dominant; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay to Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450; Hypoglycemia of infancy, leucine-sensitive, OMIM:240800; Diabetes mellitus, transient neonatal 2, OMIM:610374; Diabetes mellitus, noninsulin-dependent, OMIM:125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features, OMIM:618857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v1.27 | ABCC8 | Ivone Leong Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Dominant; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant) to Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Dominant; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v1.13 | ABCC8 | Ivone Leong reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes v1.12 | ABCC8 |
Ivone Leong Source NHS GMS was added to ABCC8. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Neonatal diabetes | ABCC8 | Rebecca Foulger marked ABCC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes | ABCC8 | Rebecca Foulger classified ABCC8 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neonatal diabetes | ABCC8 | Rebecca Foulger commented on ABCC8 |