Agranulocytosis eligibility statement: Relevant diseases: - A- or hypo-gammaglobulinaemia - Agranulocytosis - Congenital neutropaenia - SCID - Combined B and T cell defect Primary immunodeficiency disorders inclusion criteria (29434) - Suspected primary immunodeficiency diagnosed by a consultant immunologist, particularly if familial. - Appropriate available diagnostic tests should have ruled out mutations in relevant known genes. - All cases must be discussed and approved by the PID-MDT at the recruiting GMC Primary immunodeficiency disorders exclusion criteria (29434) - Known genetic cause already identified in proband or family member with similar phenotype. - Secondary immunodeficiency likely Prior genetic testing guidance (29434) - 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 (29434) These requirements will be kept under continual review during the main programme and may be subject to change.
Ellen McDonagh (Genomics England Curator)
Group: Other
Workplace: Other
Richard Scott (North Thames GMC/UCL)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Tracy Briggs (Manchester Genomic Medicine Centre)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Peter Arkwright (Royal Manchester Foundation Trust)
Group: GeCIP domain
Workplace: NHS clinical service
Sophie Hambleton (Newcastle University)
Group: GeCIP domain
Workplace: Research lab
Christopher Duncan (Newcastle University)
Group: GeCIP domain
Workplace: Research lab
emma baple (South West GMC)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
HAX1 |
5 reviews4 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
TCN2 |
3 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
17.12.15 Approved for Version 1.