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Severe Paediatric Disorders v0.17 ABCC8 Louise Daugherty Mode of inheritance for gene ABCC8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 ABCC8 Louise Daugherty reviewed gene: ABCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 ABCC8 Louise Daugherty Publications for gene ABCC8 were updated from to 30847515
Severe Paediatric Disorders v0.10 ABCC8 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal 2, 610374; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853 for gene: ABCC8
Severe Paediatric Disorders v0.9 ABCC8 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal 2, 610374; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853 for gene: ABCC8
Severe Paediatric Disorders v0.9 ABCC8 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal 2, 610374; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853 for gene: ABCC8
Severe Paediatric Disorders v0.8 ABCC8 Louise Daugherty Added phenotypes Hypoglycemia of infancy, leucine-sensitive, 240800; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, transient neonatal 2, 610374 for gene: ABCC8
Severe Paediatric Disorders v0.7 ABCC8 Louise Daugherty Source Next Generation Children Project was added to ABCC8.
Severe Paediatric Disorders v0.5 ABCC8 Louise Daugherty Source Expert Review Green was added to ABCC8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 ABCC8 Louise Daugherty gene: ABCC8 was added
gene: ABCC8 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ABCC8 was set to