Genomics England

glucokinase

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Congenital hyperinsulinism R-numbers: R144 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hyperinsulinism, Dominant, MODY, type II, 125851
Green in Glucokinase-related fasting hyperglycaemia R-numbers: R142 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes
Green in Monogenic diabetes R-numbers: R141 Signed-off version 2.60	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485, Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853, MODY, type II, OMIM:125851, Diabetes mellitus, permanent neonatal 1, OMIM:606176
Green in Neonatal diabetes R-numbers: R143 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes MODY, type II, OMIM:125851, Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853, Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485, Diabetes mellitus, permanent neonatal 1, OMIM:606176, Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (recessive)