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Severe multi-system atopic disease with high IgE (Version 1.9)

Level 3: Atopy
Level 2: Dermatological disorders

Panel types: Rare Disease 100K
Previous code: 553f95d0bb5a1616e5ed45c1
Description
This panel is NO LONGER ACTIVELY MAINTAINED.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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Severe multi-system atopic disease with high IgE (15085)

Severe multi-system atopic disease with high IgE inclusion criteria (29367)
- All of the following are required:
  - Adult patients only
  - Onset of patients' medical problems is in early childhood (often < 1 year old)
  - Severe persistent eczema (severe means requiring treatment over and above safe use of potent topical steroids, e.g. topical calcineurin inhibitors, UV light treatment or systemic immunosuppression: azathioprine, cyclosporine A, methotrexate, mycophenolate). Where topical calcineurin inhibitors are used as first line treatment and achieve good symptom control patients should only be included if serum IgE >10000.
  - Recurrent or chronic S. aureus skin infections, but this criterion may be absent if the patient is receiving systemic immunosuppressive treatment.
  - Asthma, but the severity can vary from mild to severe
  - High IgE levels >5000
  - Sensitised to a wide variety of aero-allergens and food allergens as measured by ImmunoCAP tests.

Severe multi-system atopic disease with high IgE exclusion criteria (29367)
- Those with systemic infections (unlike patients with classical hyper IgE syndrome)

Prior genetic testing guidance (29367)
- 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.

Closing statement (29367)
These requirements will be kept under continual review during the main programme and may be subject to change.
Panel Activity

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • William Rae (University Hospital Southampton NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

8 Entities

5 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
8 Entitiess
Green List (high evidence)
CARD11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • multisystem atopic disease, eczema, raised IgE, low IgM, eosinophilia
  • B-cell expansion with NFKB and T-cell anergy, OMIM:616452
Tags
Green List (high evidence)
DOCK8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mental retardation, autosomal dominant 2, 614113Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700
  • Hyper IgE syndromes
Tags
Green List (high evidence)
PGM3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 23
Tags
Green List (high evidence)
SPINK5
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Netherton syndrome, 256500Atopy, 147050
  • Netherton syndrome
Tags
  • gene-therapy-trial
Green List (high evidence)
STAT3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyper IgE Syndrome
  • Hyper IgE syndromes
  • Hyper-IgE recurrent infection syndrome, 147060
Tags
Red List (low evidence)
IL21R
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • [IgE, elevated level of], 147050Immunodeficiency, primary, autosomal recessive, IL21R-related, 615207
Tags
Red List (low evidence)
PLA2G7
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Platelet-activating factor acetylhydrolase deficiency, 614278{Asthma, susceptibility to}, 600807{Atopy, susceptibility to}, 147050
Tags
Red List (low evidence)
TYK2
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hyper IgE syndromes
Tags

Major version comments

  • Literature search, UKGTN search - no other genes identified for Hyper-IgE syndrome

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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