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Familial disseminated superficial actinic porokeratosis (Version 1.4)

Level 3: Keratodermas
Level 2: Dermatological disorders

Panel types: Rare Disease 100K
Previous code: 5763f6048f620350a1996052
Description
This panel is NO LONGER ACTIVELY MAINTAINED.

Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up.

Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel.

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Eligibility statement for Familial disseminated superficial actinic porokeratosis (37644):

Familial disseminated superficial actinic porokeratosis inclusion criteria (37750)
•	Clinical diagnosis of DSAP, AND
•	At least 2 affected members over 2 generations, AND
•	If there is any clinical doubt, skin biopsy confirmation should be sought

Familial disseminated superficial actinic porokeratosis exclusion criteria (37750)
•	Mibelli, palmoplantar, punctate, sweat duct naevus-related DSAP

Prior genetic testing guidance (37750)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Familial disseminated superficial actinic porokeratosis prior genetic testing genes (37750)
No genes listed

Closing statement (37750)
These requirements will be kept under continual review during the main programme and may be subject to change.
Panel Activity

3 reviewers

  • John McGrath (KCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Veronica Kinsler (UCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

7 Entities

7 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
7 Entitiess
Green List (high evidence)
FDPS
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Porokeratosis 9, multiple types, 616631
  • DSAP/DSP
  • actinic or nonactinic disseminated superficial porokeratosis
  • POROK9
Tags
  • deletions
Green List (high evidence)
MVD
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Porokeratosis 7, multiple types, OMIM:614714
Tags
Green List (high evidence)
MVK
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Porokeratosis 3, multiple types, OMIM:175900
Tags
Amber List (moderate evidence)
SART3
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • disseminated superficial actinic porokeratosis
  • DSAP
Tags
  • watchlist
Amber List (moderate evidence)
SLC17A9
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Porokeratosis 8, disseminated superficial actinic type, 616063
  • disseminated superficial actinic porokeratosis-8
  • POROK8
  • Disseminated superficial actinic porokeratosis (DSAP)
Tags
  • watchlist
Red List (low evidence)
PMVK
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Porokeratosis 1, multiple types, 175800
  • POROKERATOSIS OF MIBELLI
Tags
Red List (low evidence)
SSH1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • disseminated superficial actinic porokeratosis
  • DSAP
Tags

Major version comments

  • Promoted to Version 1 on 7 September 2017. Reviews were assessed and panel was revised after additional curation and Genomics England clinical input.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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