Description
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.

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 genes

7 reviewed, 3 green

List Gene Reviews Mode of inheritance Details
7 genes
Green Green List (high evidence)
FDPS
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Porokeratosis 9, multiple types, 616631
  • DSAP/DSP
  • actinic or nonactinic disseminated superficial porokeratosis
  • POROK9
Tags
  • deletions
Green 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, 614714
  • actinic/non-actinic disseminated superficial porokeratosis
  • POROK7
  • DSAP/DSP
Green Green List (high evidence)
MVK
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Other
Phenotypes
  • Porokeratosis 3, multiple types, 175900
  • Porokeratosis 3, Multiple Types
  • POROK3
  • DSAP1
  • POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
  • Porokeratosis 3, Disseminated Superficial Actinic Type
Amber 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 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 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
Red Red List (low evidence)
SSH1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Red
Phenotypes
  • disseminated superficial actinic porokeratosis
  • DSAP

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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