Mosaic skin disorders - deep sequencing
Gene: MVDComment 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
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
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
Tag Q2_24_promote_green tag was added to gene: MVD.
Gene: mvd has been classified as Amber List (Moderate Evidence).
Publications for gene: MVD were set to 30942823
Phenotypes for gene: MVD were changed from Linear porokeratosis to Porokeratosis 7, multiple types, OMIM:614714
Gene: mvd has been classified as Amber List (Moderate Evidence).
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