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Familial disseminated superficial actinic porokeratosis

Gene: MVD

Green List (high evidence)

MVD (mevalonate diphosphate decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000167508
EnsemblGeneIds (GRCh37): ENSG00000167508
OMIM: 603236, Gene2Phenotype
MVD is in 3 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Monoallelic MOI supported by OMIM.
Created: 7 Sep 2017, 11:01 a.m.
Comment on list classification: Updated rating from Red to Green after clinical discussion with Helen Brittain. Reasonable to include cases where DSAP and DSP haven't been distinguished, as it is sometimes hard to completely differentiate disseminated superficial actinic porokeratosis (DSAP) from disseminated superficial porokeratosis (DSP) in a clinical setting. Sufficient DSAP/DSP cases to support causation.
Created: 7 Sep 2017, 11 a.m.
PMID:28777842 (Li et al 2017) analysed 9 Han Chinese patients with DSAP: 5 patients from 1 family plus 4 sporadic cases. They found a c.746T>C mutation in MVD in the family and 2 sporadic cases, and a c.875A>G mutation in MVD in another sporadic case. The full paper is not available for further analysis and these are the same 2 variants reported by Zhang et al., 2015 (PMID:26202976).
Created: 4 Sep 2017, 2:28 p.m.
Luan et al 2011 identified a linkage locus for DSAP in a 4-generation Chinese DSAP family (PMID:21161278) and hypothesised that the MVD gene was the causal gene in the PK family. Zhang, 2015 (PMID:26202976) subsequently sequenced MVD, and found the c.746T>C variant co-segregated with the PK phenotype in this family. Subsequent analysis of 134 Chinese probands with porokeratosis (the authors do not distinguish between DSAP and DSP) revealed that either the F249S mutation or an N292S mutation was present in heterozygosity in 50 of the PK patients.

Created: 4 Sep 2017, 1:44 p.m.
PMID:27422687 (Li et al., 2016) examined 10 families and 12 sporadic cases with different subtypes of porokeratosis in the Chinese population, including 10 families and four sporadic patients with DSAP/disseminated superficial porokeratosis (DSP). 1 novel missense mutation p.Pro15Arg and 4 reported mutations, namely, p.Arg228Gln, p.Phe249Ser, p.Asn292Ser and p.Ile371del were identified in MVD gene in this PK cohort. Note that DSAP is not distinguished from DSP in most cases (except proband of family 1 with DSAP and the p.Arg228Gln mutation in MVD).
Created: 20 Jun 2017, 3:06 p.m.

John McGrath (KCL)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Porokeratosis 7, multiple types, 614714
  • actinic/non-actinic disseminated superficial porokeratosis
  • POROK7
  • DSAP/DSP
OMIM
603236
Clinvar variants
Variants in MVD
Penetrance
Complete
Publications
Panels with this gene

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.

7 Sep 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for MVD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Sep 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).

7 Sep 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

4 Sep 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for MVD were set to Porokeratosis 7, multiple types, 614714; actinic/non-actinic disseminated superficial porokeratosis; POROK7; DSAP/DSP

4 Sep 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MVD were set to 26202976; 26816331 (correction for PMID:26202976); 28777842

3 Jul 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for MVD were set to Porokeratosis 7, multiple types, 614714; Porokeratosis 7, Disseminated Superficial Actinic Type; POROK7; DSAP/DSP

14 Mar 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MVD were set to 26202976; 26816331 (correction for PMID:26202976)

8 Nov 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

MVD was added to Familial disseminated superficial actinic porokeratosispanel. Source: Other Model of inheritance for gene MVD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

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

8 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

MVD was created by rfoulger