Palmoplantar keratodermas
Gene: MVKEnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 23 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 12:38 p.m. | Last Modified: 6 Dec 2024, 12:38 p.m.
Panel Version: 3.27
Sarah Leigh (Genomics England Curator)
Palmoplantar keratodermas is not a feature of the phenotype associated with this gene.Created: 26 Feb 2024, 1:12 p.m. | Last Modified: 26 Feb 2024, 1:12 p.m.
Panel Version: 3.24
Zornitza Stark (Australian Genomics)
Association is with porokeratosis, cannot find reports of PPK.Created: 19 Aug 2020, 6:28 a.m. | Last Modified: 19 Aug 2020, 6:28 a.m.
Panel Version: 1.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porokeratosis 3, multiple types, MIM# 175900
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: MVK; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 28 Jan 2019, 10:47 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- London North GLH
- NHS GMS
- Phenotypes
-
- Porokeratosis 3, multiple types, OMIM:175900
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- None
- Panels with this gene
-
- Mosaic skin disorders - deep sequencing
- Hereditary ataxia
- Neonatal cholestasis
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Undiagnosed metabolic disorders
- Familial disseminated superficial actinic porokeratosis
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Palmoplantar keratodermas
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- COVID-19 research
- Periodic fever syndromes
- Fetal hydrops
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_24_demote_red was removed from gene: MVK. Tag Q1_24_expert_review was removed from gene: MVK.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Red was added to MVK. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_24_demote_red tag was added to gene: MVK. Tag Q1_24_expert_review tag was added to gene: MVK.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MVK were changed from porokeratosis of Mibelli; Actinic porokeratosis to Porokeratosis 3, multiple types, OMIM:175900
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to MVK.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: MVK was added gene: MVK was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MVK were set to porokeratosis of Mibelli; Actinic porokeratosis