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.
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
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
CARD14 |
4 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
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Green List (high evidence) |
IL36RN |
3 reviews2 green |
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
AP1S3 |
3 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
HLA-C |
1 review |
Other - please specifiy in evaluation comments |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
MSMO1 |
3 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
NOD2 |
3 reviews1 red |
Unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
PSTPIP1 |
3 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
SLC39A4 |
3 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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Red List (low evidence) |
STAT2 |
3 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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Red List (low evidence) |
TRAF3IP2 |
1 review1 red |
Unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
TRPV3 |
3 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
ZNF750 |
3 reviews |
Unknown |
Sources
Phenotypes
Tags |
Promoted to V1 24/11/2016