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Familial disseminated superficial actinic porokeratosis

Gene: MVK

Green List (high evidence)

MVK (mevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 22 panels

3 reviews

John McGrath (KCL)

I don't know

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)

Green List (high evidence)

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.

History Filter Activity

7 Sep 2017, Gel status: 4

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.

22 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

22 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

20 Jun 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MVK were set to 22983302; 24781643; 26202976; 26816331 (correction for PMID:26202976); 26794421; 28543715

20 Mar 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for MVK was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

14 Mar 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MVK were set to 22983302; 24781643; 26202976; 26816331 (correction for PMID:26202976); 26794421

14 Mar 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MVK were set to 22983302; 24781643; 26202976; 26816331 (correction for PMID:26202976)

14 Mar 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MVK were set to 22983302; 24781643

8 Nov 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

MVK was added to Familial disseminated superficial actinic porokeratosispanel. Source: Other

8 Nov 2016, Gel status: 2

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

8 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

MVK was created by rfoulger

8 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

MVK was added to Familial disseminated superficial actinic porokeratosispanel. Sources: Radboud University Medical Center, Nijmegen