This panel is NO LONGER ACTIVELY MAINTAINED.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. ----- Familial hidradenitis suppurativa eligibility statement: Familial hidradenitis suppurativa inclusion criteria Clinical diagnosis of hidradenitis suppurativa, AND Two or more additional relatives over two generations or more consistent with autosomal dominant inheritance. At least two additional relatives should be available for recruitment. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease. In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs. Familial hidradenitis suppurativa exclusion criteria Acne vulgaris or nodulocystic acne as an isolated clinical feature Prior genetic testing guidance - 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 hidradenitis suppurativa prior genetic testing genes Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: No genes specified. Closing statement These requirements will be kept under continual review during the main programme and may be subject to change.
John McGrath (KCL)
Group: GeCIP domain
Workplace: Research lab
Rebecca Foulger (Genomics England curator)
Group: Other
Workplace: Other
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11 Entitiess
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NCSTN |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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PSEN1 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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PSENEN |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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FGFR2 |
2 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Phenotypes
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GJB2 |
2 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Phenotypes
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PSTPIP1 |
2 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Phenotypes
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IL12RB1 |
2 reviews1 red |
Unknown |
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Phenotypes
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IL22 |
2 reviews1 red |
Unknown |
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Phenotypes
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KRT17 |
2 reviews1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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MEFV |
2 reviews1 red |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Phenotypes
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TNF |
2 reviews1 red |
Unknown |
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Phenotypes
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6th July 2017: Revised panel and promoted to Version 1.0 based on expert review. Although PSENEN, NCSTN and PSEN1 (all green genes on this panel) collectively only account for approximately 7% of all hidradenitis suppurativa (HS), there is insufficient evidence to promote any further genes to green at this time.