Mosaic skin disorders - deep sequencing

Gene: MVD

Amber List (moderate evidence)

MVD (mevalonate diphosphate decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000167508
EnsemblGeneIds (GRCh37): ENSG00000167508
OMIM: 603236, Gene2Phenotype
MVD is in 3 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Somatic second hit, at least 5 individuals reported.
Created: 18 Feb 2021, 8:16 a.m. | Last Modified: 18 Feb 2021, 8:16 a.m.
Panel Version: 1.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Porokeratosis 7, multiple types, MIM# 614714

Publications

Tom Cullup (Great Ormond Street Hospital)

I don't know

Heterozygous germline variants + second somatic hit (point mutation or LOH) in affected tissues.
Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Linear porokeratosis

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Linear porokeratosis
OMIM
603236
Clinvar variants
Variants in MVD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

5 Dec 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: MVD was added gene: MVD was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MVD were set to 30942823 Phenotypes for gene: MVD were set to Linear porokeratosis