MVK

mevalonate kinase
OMIM: 251170
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyper-IgD syndrome 260920, Mevalonic aciduria 610377, Porokeratosis 3, multiple types 175900
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria
R-numbers: R166
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
porokeratosis of Mibelli, Actinic porokeratosis
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgD syndrome 260920, Mevalonic aciduria 610377, Hyper IgD syndrome (MVK), Periodic fever and leukocytosis with high IgD levels, Autoinflammatory Disorders