Rare genetic inflammatory skin disorders

Gene: MVD

Green List (high evidence)

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

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
POROKERATOSIS 7, MULTIPLE TYPES; POROK7

Publications

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team it was agreed that genes associated with Familial disseminated superficial actinic porokeratosis should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • POROKERATOSIS 7, MULTIPLE TYPES, OMIM:614714
OMIM
603236
Clinvar variants
Variants in MVD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MVD were changed from POROKERATOSIS 7, MULTIPLE TYPES; POROK7 to POROKERATOSIS 7, MULTIPLE TYPES, OMIM:614714

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes POROKERATOSIS 7, MULTIPLE TYPES; POROK7 for gene: MVD Publications for gene MVD were changed from to 26202976

2 Dec 2019, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to MVD. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: MVD was added gene: MVD was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown