MVD

mevalonate diphosphate decarboxylase
OMIM: 603236, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MVD in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 1.22

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Porokeratosis 7, multiple types, MIM# 614714
  • Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related, AR

Green MVD in Mendeliome


Version 1.3795

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Porokeratosis 7, multiple types, MIM# 614714
  • Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related, AR

Red MVD in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related

Green MVD in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 2.40

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Porokeratosis 7, multiple types, MIM# 614714
    • Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related, AR

    Green MVD in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.15

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Linear porokeratosis
    • Porokeratosis 7, multiple types, MIM# 614714