Mosaic skin disorders
Gene: MVDEnsemblGeneIds (GRCh38): ENSG00000167508
EnsemblGeneIds (GRCh37): ENSG00000167508
OMIM: 603236, Gene2Phenotype
MVD is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous pathogenic germline variant in a mevalonate pathway gene and a postzygotic second hit mutation present in affected skin have been shown to be the patho-genetic mechanism for the development of the lesions. At least 5 individuals reported.Created: 18 Feb 2021, 8:14 a.m. | Last Modified: 18 Feb 2021, 8:14 a.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porokeratosis 7, multiple types, MIM# 614714
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- NHS GMS
- Phenotypes
-
- Linear porokeratosis
- Porokeratosis 7, multiple types, MIM# 614714
- OMIM
- 603236
- Clinvar variants
- Variants in MVD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mvd has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MVD were changed from Linear porokeratosis to Linear porokeratosis; Porokeratosis 7, multiple types, MIM# 614714
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MVD were set to 30942823
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mvd has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MVD was added gene: MVD was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp 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