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 1.2

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Porokeratosis 7, multiple types, 614714
  • actinic/non-actinic disseminated superficial porokeratosis
  • POROK7
  • DSAP/DSP
Green MVD in Rare genetic inflammatory skin disorders


Version 3.5
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 2.41
Latest signed off version: v2.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Linear porokeratosis