Description
Eligibility statement for Generalised pustular psoriasis (33646):

Generalised pustular psoriasis inclusion criteria (33450)
•	Presence of primary, sterile, macroscopically visible epidermal pustules on non-acral skin
•	More than one episode of acute pustulation
•	Diagnosis confirmed by consultant dermatologist

Generalised pustular psoriasis exclusion criteria (33450)
•	Cases where pustulation is restricted to psoriatic plaques

Prior genetic testing guidance (33450)
- 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.

Generalised pustular psoriasis prior genetic testing genes (33450)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 No genes listed

Closing statement (33450)
These requirements will be kept under continual review during the main programme and may be subject to change.

4 reviewers

  • catherine smith (Guys and St Thomas' NHS Foundation Trust)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Francesca Capon (King's College London)

    Group: GeCIP domain
    Workplace: Research lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

12 Entities

12 reviewed, 2 green

List Entity Reviews Mode of inheritance Details
12 Entitiess
Green Green List (high evidence)
CARD14
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CARD14 mediated psoriasis Psoriasis 2, 602723
  • Pityriasis rubra pilaris,173200
  • Other autoinflammatory diseases with known genetic defect
Tags
Green Green List (high evidence)
IL36RN
3 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Psoriasis 14, pustular 614204
Tags
  • monogenic-polygenic
Red Red List (low evidence)
AP1S3
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Research
Phenotypes
  • {Psoriasis 15, pustular, susceptibility to} 616106
Tags
  • monogenic-polygenic
Red Red List (low evidence)
HLA-C
1 review
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Other
Phenotypes
  • {Psoriasis susceptibility 1} 177900
Tags
Red Red List (low evidence)
MSMO1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis 616834
Tags
Red Red List (low evidence)
NOD2
3 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Psoriatic arthritis, susceptibility to}, 607507
Tags
Red Red List (low evidence)
PSTPIP1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416
Tags
Red Red List (low evidence)
SLC39A4
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Acrodermatitis enteropathica, 201100
Tags
Red Red List (low evidence)
STAT2
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Immunodeficiency 44 616636
Tags
Red Red List (low evidence)
TRAF3IP2
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • {Psoriasis susceptibility 13} 614070
Tags
Red Red List (low evidence)
TRPV3
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Palmoplantar keratoderma, nonepidermolytic, focal 2 616400
  • AD 3 Olmsted syndrome 614594
Tags
Red Red List (low evidence)
ZNF750
3 reviews
Unknown
Sources
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Seborrhea-like dermatitis with psoriasiform elements, 610227
Tags

Major version comments

Downloads

Download lists

Download Version