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| Monogenic diabetes v2.5 | ABCC8 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Diabetes mellitus, permanent neonatal, 6;Transient Neonatal Diabetes, Dominant;transient neonatal diabetes (Dominant);Diabetes mellitus, noninsulin-dependent, 125853;DIABETES MELLITUS, NONINSULIN-DEPENDENT;Diabetes mellitus, transient neonatal 2, 610374;Hyperinsulinemic hypoglycemia, familial, 1, 256450;Hypoglycemia of infancy, leucine-sensitive, 240800;Permanent neonatal diabetes mellitus;Permanent Neonatal Diabetes Mellitus (recessive);Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6;Permanent Neonatal Diabetes Mellitus |
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| Monogenic diabetes v2.5 | ABCC8 | Ivone Leong Phenotypes for gene: ABCC8 were changed from Diabetes mellitus, permanent neonatal, 6; Transient Neonatal Diabetes, Dominant; transient neonatal diabetes (Dominant); Diabetes mellitus, noninsulin-dependent, 125853; DIABETES MELLITUS, NONINSULIN-DEPENDENT; Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent neonatal diabetes mellitus; Permanent Neonatal Diabetes Mellitus (recessive); Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6; Permanent Neonatal Diabetes Mellitus to Transient Neonatal Diabetes Mellitus, MONDO:0020525 (dominant); Diabetes mellitus, noninsulin-dependent, OMIM:125853; Diabetes mellitus, transient neonatal 2, OMIM:610374; Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450; Hypoglycemia of infancy, leucine-sensitive, OMIM:240800; Permanent Neonatal Diabetes Mellitus, MONDO:0100164(recessive) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.8 | ABCC8 | Ivone Leong reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.7 | ABCC8 | Ivone Leong Source NHS GMS was added to ABCC8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.2 | ABCC8 | Ellen McDonagh Added phenotypes Diabetes mellitus, permanent neonatal, 6; Transient Neonatal Diabetes, Dominant; transient neonatal diabetes (Dominant); Diabetes mellitus, noninsulin-dependent, 125853; DIABETES MELLITUS, NONINSULIN-DEPENDENT; Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent neonatal diabetes mellitus; Permanent Neonatal Diabetes Mellitus for gene: ABCC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.2 | ABCC8 |
Ellen McDonagh gene: ABCC8 was added gene: ABCC8 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6; Transient Neonatal Diabetes, Dominant; Permanent Neonatal Diabetes Mellitus; Permanent Neonatal Diabetes Mellitus (recessive) Mode of pathogenicity for gene: ABCC8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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