Description
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.

7 reviewers

  • 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

2 Entities

2 reviewed, 2 green

List Entity Reviews Mode of inheritance Details
2 Entitiess
Green Green List (high evidence)
HAX1
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
Tags
Green Green List (high evidence)
TCN2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • SCID
  • Congenital neutropaenia
  • Combined B and T cell defect
  • Agranulocytosis
  • A- or hypo-gammaglobulinaemia
  • Early onset pancytopenia and red cell disorders
  • Congenital anaemias
  • Inherited complement deficiency
  • intellectual disability
  • Transcobalamin II deficiency
  • can have a presentation similar to severe combined immunodeficiency
  • pancytopenia
  • neutropenic colitis
  • Agammaglobulinemia
  • megaloblastic bone marrow
  • thrombocytopenia
  • neutropenia
  • failure to thrive
  • hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow.
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