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| Transplant Co-Morbidity Superpanel v0.0 | ABCC8 |
Bryony Thompson gene: ABCC8 was added gene: ABCC8 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,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 Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; DIABETES MELLITUS, NONINSULIN-DEPENDENT; transient neonatal diabetes (Dominant); Transient Neonatal Diabetes, Dominant; Diabetes mellitus, transient neonatal 2, 610374; Permanent Neonatal Diabetes Mellitus; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, noninsulin-dependent, 125853; Permanent neonatal diabetes mellitus; Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6 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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