Genomics England
GMS Panels
Panels
Genes and Entities

MVK

mevalonate kinase
OMIM: 251170
PanelMode of inheritanceDetails
7 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 7.19
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria, OMIM:610377
Green
in Autoinflammatory disorders
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
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria, OMIM:610377
Green
in Likely inborn error of metabolism
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 7.13
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 7.26
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 7.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377, retinitis pigmentosa, MONDO:0019200