MVD

mevalonate diphosphate decarboxylase
OMIM: 603236, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green MVD in Familial disseminated superficial actinic porokeratosis

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Porokeratosis 7, multiple types, OMIM:614714
Green MVD in Rare genetic inflammatory skin disorders


Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Porokeratosis 7, multiple types, OMIM:614714
Amber MVD 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 Amber
Phenotypes
  • Porokeratosis 7, multiple types, OMIM:614714
Tags
  • Q2_24_promote_green