Familial disseminated superficial actinic porokeratosis
Gene: MVKEnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 23 panels
3 reviews
John McGrath (KCL)
The pathogenic mutations reported in MVK, SART3 and SLC17A9 have only been reported in China, yet the condition is worldwide and others have not found anything in these genes.Created: 20 Jun 2017, 12:47 p.m.
Veronica Kinsler (UCL)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked MVK as ready: June 22nd 2017.Created: 22 Jun 2017, 1:04 p.m.
Comment on list classification: Kept rating as Green: 1 Green review plus 1 Amber review. Mutations in MVK gene have found to cause multiple types of porokeratosis, but MVK has been reported to be the main candidate gene associated with DSAP. Sufficient (>3) cases of mutations in patients with DSAP subtype from OMIM and literature search (e.g. PMID:26794421, 25059119, 24551296, 22983302). Although all cases so far are from Chinese populations, multiple MVK variants have been identified.Created: 22 Jun 2017, 1:04 p.m.
Comment on list classification: Updated rating from Amber to Green: 1 green review plus sufficient unrelated cases to support causation (from Chinese population).Created: 20 Jun 2017, 12:54 p.m.
Liu et al. 2016 (PMID:26794421) identify 3 mutations in MVK in 6 sporadic cases of DSAP: c.1126G>A (G376S), c.31C>T (P11S) and c.1004G>A (G335D).Created: 14 Mar 2017, 3:02 p.m.
Zhang et al. (2015, PMID:26202976) screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis. Among the 60 familial patients in whom at least one mutation was found, 24 had MVK mutations, and one had both MVK and MVD mutations. Among the 53 sporadic patients in whom at least one mutation was found, 14 had MVK mutations. Note that these figures include related individuals.Created: 14 Mar 2017, 2:47 p.m.
In 18 of 57 Chinese probands with autosomal dominant disseminated superficial actinic porokeratosis (POROK3; MIM:175900) and in 4 of 25 patients with sporadic occurrence of the disease, Zhang et al. (2012, PMID:22983302) identified 14 different heterozygous mutations in the MVK gene.Created: 14 Mar 2017, 2:04 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
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- Expert Review Green
- Other
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
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- Porokeratosis 3, multiple types, OMIM:175900
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- Complete
- Publications
- Panels with this gene
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- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MVK were changed from Porokeratosis 3, multiple types, 175900; Porokeratosis 3, Multiple Types; POROK3; DSAP1; POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; Porokeratosis 3, Disseminated Superficial Actinic Type to Porokeratosis 3, multiple types, OMIM:175900
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted to Version 1 on 7 September 2017. Reviews were assessed and panel was revised after additional curation and Genomics England clinical input.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for MVK were set to 22983302; 24781643; 26202976; 26816331 (correction for PMID:26202976); 26794421; 28543715
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for MVK was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for MVK were set to 22983302; 24781643; 26202976; 26816331 (correction for PMID:26202976); 26794421
Set publications
Rebecca Foulger (Genomics England curator)Publications for MVK were set to 22983302; 24781643; 26202976; 26816331 (correction for PMID:26202976)
Set publications
Rebecca Foulger (Genomics England curator)Publications for MVK were set to 22983302; 24781643
Added New Source
Rebecca Foulger (Genomics England curator)MVK was added to Familial disseminated superficial actinic porokeratosispanel. Source: Other
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)MVK was added to Familial disseminated superficial actinic porokeratosispanel. Source: UKGTN Model of inheritance for gene MVK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created
Rebecca Foulger (Genomics England curator)MVK was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)MVK was added to Familial disseminated superficial actinic porokeratosispanel. Sources: Radboud University Medical Center, Nijmegen