Description
Disseminated non-tuberculous mycobacterial infection eligibility statement:

Disseminated non-tuberculous mycobacterial infection inclusion criteria (41936) 
Individuals with disseminated (multiple lymph nodes, liver, spleen, bone or other organs) or progressive disease (including progressive skin or lymph node infection at the site of BCG due to BCG or non-tuberculous mycobacteria 

Disseminated non-tuberculous mycobacterial infection exclusion criteria (41936) 
Underlying immunodeficiency (PID, CGD); HIV Infection; Infection following bone marrow transplantation or cancer chemotherapy. 

Prior genetic testing guidance (41936) 
- 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. 

Disseminated non-tuberculous mycobacterial infection prior genetic testing genes (41936) 
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 (41936)
These requirements will be kept under continual review during the main programme and may be subject to change.

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

10 Entities

10 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
10 Entitiess
Red Red List (low evidence)
CYBB
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Tags
Red Red List (low evidence)
GATA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
IFNGR1
2 reviews
1 green
Unknown
Sources
  • Literature
Phenotypes
  • Mendelian Susceptibility to Mycobacterial Diseases (MSMD)
Tags
Red Red List (low evidence)
IFNGR2
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Mendelian Susceptibility to Mycobacterial Diseases (MSMD)
Tags
Red Red List (low evidence)
IL12B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Tags
Red Red List (low evidence)
IL12RB1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • massive intraabdominal lymphadenopathy due to Mycobacterium intracellulare
Tags
Red Red List (low evidence)
IRF8
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
Tags
Red Red List (low evidence)
ISG15
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Tags
Red Red List (low evidence)
NLK
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Tags
Red Red List (low evidence)
STAT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Mendelian Susceptibility to Mycobacterial Diseases (MSMD)
Tags

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