Level 2: Viral research
Version 1.142
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- North West GLH
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- IUIS Classification February 2018
Phenotypes
- Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241
- Combined immunodeficiencies with associated or syndromic features
- Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- IUIS Classification February 2018
Phenotypes
- Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241
- Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity
- Combined immunodeficiencies with associated or syndromic features
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Version 0.36
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review
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Not set
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Sources
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- DISTINCT DNA BREAKAGE SYNDROME
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241
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