Genomics England

MVK

mevalonate kinase

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mevalonic aciduria, OMIM:610377
Green in Autoinflammatory disorders R-numbers: R413 Signed-off version 3.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mevalonic aciduria, OMIM:610377, Hyper-IgD syndrome, OMIM:260920
Green in Cholestasis R-numbers: R171 Signed-off version 4.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mevalonic aciduria, OMIM:610377
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mevalonic aciduria, OMIM:610377
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377, Porokeratosis 3, multiple types, OMIM:175900
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 9.91	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377, Periodic fever and leukocytosis with high IgD levels, Autoinflammatory Disorders
Green in Retinal disorders R-numbers: R32 Signed-off version 9.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377, retinitis pigmentosa, MONDO:0019200