MVK

mevalonate kinase
OMIM: 251170
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria, OMIM:610377
R-numbers: R413
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria, OMIM:610377, Hyper-IgD syndrome, OMIM:260920
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria, OMIM:610377
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria, OMIM:610377
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377, Porokeratosis 3, multiple types, OMIM:175900
R-numbers: R166
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porokeratosis 3, multiple types, OMIM:175900
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377, Periodic fever and leukocytosis with high IgD levels, Autoinflammatory Disorders
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377, retinitis pigmentosa, MONDO:0019200