Autosomal recessive congenital ichthyosis (Version 1.15)

This panel is NO LONGER ACTIVELY MAINTAINED.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 Autosomal recessive congenital ichthyosis (33700):

Autosomal recessive congenital ichthyosis inclusion criteria (33461)
•	Neonates, infants, children and adults with a history of generalised red, dry, peeling skin at birth with a mode of inheritance consistent with autosomal recessive transmission
•	Diagnosis confirmed by consultant dermatologist

Autosomal recessive congenital ichthyosis exclusion criteria (33461)
•	Ichthyosis vulgaris
•	STS-related ichthyosis
•	Syndromic ichthyosis
•	Keratinopathic ichthyosis
•	Acquired ichthyosis

Prior genetic testing guidance (33461)
- 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.

Autosomal recessive congenital ichthyosis prior genetic testing genes (33461)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22 and, where appropriate, STS and ABCA12

Closing statement (33461)
These requirements will be kept under continual review during the main programme and may be subject to change.