Description
Eligibility statement for Non-CF bronchiectasis (11048): 

Non-CF bronchiectasis inclusion Critieria (29403)
• FEV1< 30% predicted and age 4 lobes involved in bronchiectasis < aged 50
OR
• Extensive multilobar disease
OR
• 2 or greater immediate family members affected
OR
• High chloride in sweat test but CFTR mutation analysis (including extended NHS funded analysis) negative
OR
• Bronchiectasis with any suspected underlying immunodeficiency aspect to be cross referenced with immunodeficiency GeCiP, e.g. bronchiectasis and recurrent non pulmonary infections
OR
• Bronchiectasis with any suspected underlying ciliopathy
OR
• Young’s Syndrome
OR
• Mounier Kuhn syndrome (tracheobronchomegaly)

Non-CF bronchiectasis exclusion Critieria (29403)
Late onset, single lobe disease and those where Asthma or COPD are felt much more clearly the primary driver/ aetiology of the bronchiectasis

Prior genetic testing guidance (29403)
- 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.

Non-CF bronchiectasis prior genetic testing genes (29403)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
- CFTR where clinically indicated

Closing statement (29403)
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

  • Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)

    Group: GeCIP domain
    Workplace: NHS clinical service

17 Entities

17 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
17 Entitiess
Green Green List (high evidence)
CFTR
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cystic fibrosis, 219700
  • Congenital bilateral absence of vas deferens, 277180
  • Sweat chloride elevation without CF
  • {Pancreatitis, idiopathic}, 167800
  • {Hypertrypsinemia, neonatal}
  • {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400
  • Cystic Fibrosis
  • Bronchiectasis
Tags
  • gene-therapy-trial
Green Green List (high evidence)
PIK3CD
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Tags
Green Green List (high evidence)
SCNN1A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pseudohypoaldosteronism, type I, 264350
  • Bronchiectasis with or without elevated sweat chloride 2, 613021
  • Bronchiectasis
Tags
Green Green List (high evidence)
SCNN1B
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Non-Classic Cystic Fibrosis-Like Syndrome
  • Liddle syndrome, 177200Pseudohypoaldosteronism, type I, 264350
  • Bronchiectasis with or without elevated sweat chloride 1, 211400
  • Bronchiectasis
Tags
Green Green List (high evidence)
SCNN1G
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Liddle syndrome, 177200
  • Pseudohypoaldosteronism, type I, 264350
  • Bronchiectasis with or without elevated sweat chloride 3, 613071
  • Bronchiectasis
Tags
Red Red List (low evidence)
CCDC39
1 review
Unknown
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Bronchiectasis
Tags
Red Red List (low evidence)
CCDC40
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Bronchiectasis
Tags
Red Red List (low evidence)
DNAAF1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Bronchiectasis
Tags
Red Red List (low evidence)
DNAAF2
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Bronchiectasis
Tags
Red Red List (low evidence)
DNAH11
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Bronchiectasis
Tags
Red Red List (low evidence)
DNAH5
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Bronchiectasis
Tags
Red Red List (low evidence)
DNAI1
2 reviews
1 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Bronchiectasis
  • Ciliary dyskinesia, primary, 1, with or without situs inversus
Tags
Red Red List (low evidence)
DNAI2
2 reviews
1 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Bronchiectasis
  • primary ciliary dyskinesia
Tags
Red Red List (low evidence)
DNAL1
2 reviews
1 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Bronchiectasis
  • Ciliary dyskinesia, primary, 16
Tags
Red Red List (low evidence)
NME8
2 reviews
1 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Bronchiectasis
Tags
Red Red List (low evidence)
RSPH4A
2 reviews
1 green
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Bronchiectasis
  • Reduced exercise tolerance
  • chronic wet cough
  • recurrent respiratory infections
  • nasal symptoms
  • rhinorrhea
  • rhinitis
  • nasal blockage
  • sinusitis
  • glue ear
  • otitis media
  • hearing problems
  • deafness
  • Bronchiectasis
  • low weight
  • short stature
Tags
Red Red List (low evidence)
RSPH9
2 reviews
1 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Bronchiectasis
Tags

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