1. Genes and Genomic Entities
  2. MVK

MVK

mevalonate kinase
OMIM: 251170, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels
Green MVK in Familial disseminated superficial actinic porokeratosis

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Porokeratosis 3, multiple types, OMIM:175900
Green MVK in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
Phenotypes
  • Hyper-IgD syndrome, OMIM:260920
  • Mevalonic aciduria, OMIM:610377
Green MVK in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Hyper-IgD syndrome, OMIM:260920
  • Mevalonic aciduria, OMIM:610377
Green MVK in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Hyper-IgD syndrome, OMIM:260920
  • Mevalonic aciduria, OMIM:610377
Green MVK in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mevalonic aciduria, OMIM:610377
No list MVK in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Mevalonic aciduria, OMIM:610377
Green MVK in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Hyper-IgD syndrome, OMIM:260920
  • Mevalonic aciduria, OMIM:610377
  • Autoinflammatory Disorders
  • Periodic fever and leukocytosis with high IgD levels
Green MVK in Ataxia and cerebellar anomalies - narrow panel


Version 4.64
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mevalonic aciduria, OMIM:610377
    Green MVK in Cholestasis


    Version 3.4
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mevalonic aciduria, OMIM:610377
    Green MVK in Palmoplantar keratodermas


    Version 3.25
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Porokeratosis 3, multiple types, OMIM:175900
    Tags
    • Q1_24_demote_red
    • Q1_24_expert_review
    Amber MVK in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mevalonic aciduria, OMIM:610377
    Green MVK in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 4.202
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • NHS GMS
    • North West GLH
    • London North GLH
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • ESID Registry 20171117
    • GRID V2.0
    Phenotypes
    • Hyper-IgD syndrome, OMIM:260920
    • Mevalonic aciduria, OMIM:610377
    • Periodic fever and leukocytosis with high IgD levels
    • Autoinflammatory Disorders
    No list MVK in Mosaic skin disorders - deep sequencing


    Version 2.47
    Latest signed off version: v2.0 (30 Nov 2022)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Porokeratosis 3, multiple types, OMIM:175900
    Tags
    • curated_removed
    Red MVK in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • Expert Review Red
    • London North GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Mevalonic aciduria, OMIM:610377
    Green MVK in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hyper-IgD syndrome, OMIM:260920
    • Mevalonic aciduria, OMIM:610377
    • Porokeratosis 3, multiple types, OMIM:175900
    Green MVK in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Hyper-IgD syndrome, OMIM:260920
    • Mevalonic aciduria, OMIM:610377
    • Porokeratosis 3, multiple types, OMIM:175900
    Green MVK in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mevalonic aciduria, OMIM:610377
    Red MVK in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Mevalonic aciduria, OMIM:610377
    Amber MVK in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.90
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    Phenotypes
    • Hyper-IgD syndrome, OMIM:260920
    • Mevalonic aciduria, OMIM:610377
    • retinitis pigmentosa, MONDO:0019200
    Tags
    • Q4_23_promote_green
    • Q4_23_NHS_review
    Red MVK in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green MVK in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyper-IgD syndrome, OMIM:260920
    • Mevalonic aciduria, OMIM:610377
    • Porokeratosis 3, multiple types, OMIM:175900
    Green MVK in Autoinflammatory disorders

    Level 3: Primary immunodeficiency disorders
    Level 2: Haematological disorders
    Version 1.17
    Latest signed off version: v1.0 (30 Nov 2022)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mevalonic aciduria, OMIM:610377
    • Hyper-IgD syndrome, OMIM:260920