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  3. PMVK
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Pigmentary skin disorders

Gene: PMVK

No list
PMVK (phosphomevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000163344
EnsemblGeneIds (GRCh37): ENSG00000163344
OMIM: 607622, Gene2Phenotype
PMVK is in 4 panels

1 review

Ida Ertmanska (Genomics England Curator)

Comment on list classification: Gene added to Rare genetic inflammatory skin disorders instead.
Created: 31 Dec 2025, 1:47 p.m. | Last Modified: 31 Dec 2025, 1:47 p.m.
Panel Version: 4.12
Created: 31 Dec 2025, 1:47 p.m.
Last Modified: 31 Dec 2025, 1:47 p.m.
Panel version: 4.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Porokeratosis 1, multiple types, OMIM:175800
  • porokeratosis, MONDO:0006602
Tags
curated_removed
OMIM
607622
Clinvar variants
Variants in PMVK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 0

Removed Tag, Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q4_25_promote_green was removed from gene: PMVK. Tag curated_removed tag was added to gene: PMVK.

31 Dec 2025, Gel status: 0

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: pmvk has been removed from the panel.

31 Dec 2025, Gel status: 0

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: pmvk has been removed from the panel.

3 Dec 2025, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: PMVK were changed from Porokeratosis 1, multiple types, OMIM:175800 to Porokeratosis 1, multiple types, OMIM:175800; porokeratosis, MONDO:0006602

3 Dec 2025, Gel status: 2

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: PMVK were set to 26202976; 27052676

3 Dec 2025, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: pmvk has been classified as Amber List (Moderate Evidence).

3 Dec 2025, Gel status: 1

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q4_25_promote_green tag was added to gene: PMVK.

3 Dec 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: PMVK was added gene: PMVK was added to Pigmentary skin disorders. Sources: Literature Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PMVK were set to 26202976; 27052676 Phenotypes for gene: PMVK were set to Porokeratosis 1, multiple types, OMIM:175800 Review for gene: PMVK was set to GREEN