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.
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
Sarah Leigh (Genomics England Curator)
Group: Other
Workplace: Other
Ivone Leong (Genomics England Curator)
Group: Other
Workplace: Other
Zerin Hyder (Genomics England)
Group: Other
Workplace: Other
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Green List (high evidence) |
CFTR |
2 reviews1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
DAW1 |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
DNAH5 |
3 reviews1 green 1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
PIK3CD |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
SCNN1A |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
SCNN1B |
2 reviews1 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
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| Green List (high evidence) |
SCNN1G |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
CCDC39 |
1 review |
Unknown |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
CCDC40 |
1 review1 red |
Not set |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
DNAAF1 |
1 review1 red |
Not set |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
DNAAF2 |
1 review1 red |
Not set |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
DNAH11 |
1 review1 red |
Not set |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
DNAI1 |
2 reviews1 green |
Not set |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
DNAI2 |
2 reviews1 green |
Not set |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
DNAL1 |
2 reviews1 green |
Not set |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
NME8 |
2 reviews1 green |
Not set |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
RSPH4A |
2 reviews1 green |
Unknown |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
RSPH9 |
2 reviews1 green |
Not set |
Sources
Phenotypes
Tags |
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10.05.2016 Revised and promoted panel to version 1. As a group we ensured any genes recommended for a PCD phenotype were green on the PCD gene panel, but made red on this more specific bronchiectasis panel.