PMVK

phosphomevalonate kinase
OMIM: 607622, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red PMVK 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 Red
  • Other
Phenotypes
  • Porokeratosis 1, multiple types, 175800
  • POROKERATOSIS OF MIBELLI
Amber PMVK 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
  • Linear porokeratosis