PanelApp
  1. Genes and Genomic Entities
  2. MVK

MVK

mevalonate kinase
OMIM: 251170, ClinGen, DECIPHER

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green MVK in Vasculitis


Level 2: Immunological disorders
Version 0.95

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red MVK in Cholestasis


Level 2: Gastroenterological disorders
Version 1.5

Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mevalonic aciduria, MIM# 610377

    Green MVK in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.328

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mevalonic aciduria, MIM#610377

    Green MVK in Inflammatory bowel disease


    Level 2: Gastroenterological disorders
    Version 0.126

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green MVK in Ichthyosis and Porokeratosis


    Level 2: Dermatological disorders
    Version 1.22

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • porokeratosis 3, disseminated superficial actinic type MONDO:0008293

    Green MVK in Mendeliome


    Version 1.3795

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mevalonic aciduria MIM#610377
    • Porokeratosis 3, multiple types, MIM# 175900

    Green MVK in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.40

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyper-IgD syndrome (MIM#260920)
    • Mevalonic aciduria (MIM#610377)
    • porokeratosis 3, disseminated superficial actinic type MONDO:0008293

    Green MVK in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Hyper-IgD syndrome (MIM#260920)
    • Mevalonic aciduria (MIM#610377)

    Green MVK in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.158

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mevalonic aciduria 610377

    Amber MVK in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 0.225

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Mevalonic aciduria
    • Hyper-IgD syndrome

    Green MVK in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mevalonic aciduria, 610377 (3)

    Green MVK in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hyperimmunoglobulin D and periodic fever syndrome

    Green MVK in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.59

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mevalonic aciduria MIM#610377
    • Disorders of sterol biosynthesis

    Green MVK in Fetal anomalies


    Version 1.481

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mevalonic aciduria-#610377
    • Hyper-IgD syndrome - #260920

    Green MVK in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mevalonic aciduria, MIM#610377
    • Hyper-IgD syndrome, MIM#260920

    Green MVK in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Mevalonic aciduria, MIM# 610377
    Tags
    • treatable
    • metabolic

    Green MVK in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mevalonic aciduria, MIM#610377
    • Hyper-IgD syndrome, MIM#260920