MVK

mevalonate kinase
OMIM: 251170
PanelMode of inheritanceDetails
6 panels
R-numbers: R413
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria, OMIM:610377, Hyper-IgD syndrome, OMIM:260920
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria, OMIM:610377
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377, Porokeratosis 3, multiple types, OMIM:175900
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria, OMIM:610377
R-numbers: R166
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porokeratosis 3, multiple types, OMIM:175900
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377, Periodic fever and leukocytosis with high IgD levels, Autoinflammatory Disorders