Genomics England

HK1

hexokinase 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Congenital hyperinsulinism R-numbers: R144 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Congenital hyperinsulinism
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes HK1-related developmental disorder (monoallelic)
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Hemolytic anemia due to hexokinase deficiency, OMIM:235700, Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547
Green in Rare anaemia R-numbers: R92 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hemolytic anemia due to hexokinase deficiency, OMIM:235700, Enzyme disorder
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Retinitis pigmentosa 79, OMIM:617460, Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547