PMVK

phosphomevalonate kinase
OMIM: 607622, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red PMVK in Familial disseminated superficial actinic porokeratosis Level 3: Keratodermas Level 2: Dermatological disorders Version 1.4	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Other Phenotypes Porokeratosis 1, multiple types, 175800 POROKERATOSIS OF MIBELLI
No list PMVK in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Literature Phenotypes Porokeratosis 1, multiple types, OMIM:175800 porokeratosis, MONDO:0006602 Tags curated_removed
Amber PMVK in Rare genetic inflammatory skin disorders Level 2: Dermatology Version 4.16 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Porokeratosis 1, multiple types, OMIM:175800 porokeratosis, MONDO:0006602 Tags Q4_25_promote_green
Amber PMVK in Mosaic skin disorders - deep sequencing Level 2: Dermatology Version 3.27 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes inflammatory linear verrucous epidermal nevus, MONDO:0019318 Porokeratosis 1, multiple types OMIM:175800 Tags Q4_25_promote_green Q4_25_NHS_review