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  3. PMVK
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Mosaic skin disorders

Gene: PMVK

Amber List (moderate evidence)
PMVK (phosphomevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000163344
EnsemblGeneIds (GRCh37): ENSG00000163344
OMIM: 607622, Gene2Phenotype
PMVK is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Germline disorder, cannot find evidence for somatic mosaicism.
Created: 18 Feb 2021, 9:23 a.m. | Last Modified: 18 Feb 2021, 9:23 a.m.
Panel Version: 0.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Porokeratosis 1, multiple types, MIM# 175800

Publications

Created: 18 Feb 2021, 9:23 a.m.
Last Modified: 18 Feb 2021, 9:23 a.m.
Panel version: 0.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Linear porokeratosis
  • Porokeratosis 1, multiple types, MIM# 175800
OMIM
607622
Clinvar variants
Variants in PMVK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PMVK were set to 30942823

18 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Feb 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PMVK were changed from Linear porokeratosis to Linear porokeratosis; Porokeratosis 1, multiple types, MIM# 175800

18 Feb 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PMVK was added gene: PMVK was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PMVK were set to 30942823 Phenotypes for gene: PMVK were set to Linear porokeratosis