Level 2: Viral research
Version 1.141
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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
- GRID V2.0
- North West GLH
- Victorian Clinical Genetics Services
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- GRID V2.0
Phenotypes
- Immunodeficiency 42 616622
- Susceptibility to mycobacteria and candida
- Defects in Intrinsic and Innate Immunity
- Susceptibility to candidasis & Mycobacterial infection
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Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
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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
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- GRID V2.0
Phenotypes
- Immunodeficiency 42 616622
- Susceptibility to candidasis & Mycobacterial infection
- Susceptibility to mycobacteria and candida
- Defects in Intrinsic and Innate Immunity
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Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 3.10
Latest signed off version: v3.0
(30 Nov 2022)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Lymphoedema, MONDO:0019297
Tags
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Version 1.182
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Immunodeficiency 42, 616622
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