MVD

mevalonate diphosphate decarboxylase
OMIM: 603236, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MVD in Mendeliome


Version 1.1902

review 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_Isolated


Level 2: Hearing and ear disorders
Version 1.63

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

Green MVD in Mosaic skin disorders


Level 2: Dermatological disorders
Version 1.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • 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