Mosaic skin disorders - deep sequencing
Gene: MVDEnsemblGeneIds (GRCh38): ENSG00000167508
EnsemblGeneIds (GRCh37): ENSG00000167508
OMIM: 603236, Gene2Phenotype
MVD is in 3 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 11:18 a.m. | Last Modified: 6 Dec 2024, 11:18 a.m.
Panel Version: 2.49
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arina Puzriakova (Genomics England Curator)
Comment on list classification: At least 5 individuals reported (PMID: 30942823; 33491095) which meets the criteria for classifying this gene-disease association as Green at the next GMS panel update.Created: 2 Apr 2024, 3:41 p.m. | Last Modified: 2 Apr 2024, 3:41 p.m.
Panel Version: 2.47
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 pathogenetic mechanism for the development of the lesions.Created: 2 Apr 2024, 3:37 p.m. | Last Modified: 2 Apr 2024, 3:37 p.m.
Panel Version: 2.46
Zornitza Stark (Australian Genomics)
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)
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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Porokeratosis 7, multiple types, OMIM:614714
- OMIM
- 603236
- Clinvar variants
- Variants in MVD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: MVD.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to MVD. Source NHS GMS was added to MVD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_24_promote_green tag was added to gene: MVD.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: mvd has been classified as Amber List (Moderate Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: MVD were set to 30942823
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MVD were changed from Linear porokeratosis to Porokeratosis 7, multiple types, OMIM:614714
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: mvd has been classified as Amber List (Moderate Evidence).
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