Level 2: Viral research
Version 1.141
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- IUIS Classification February 2018
- A- or hypo-gammaglobulinaemia v1.25
- London North GLH
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- Recurrent sinopulmonary infections, alopecia and endorinopathies
- Immunodeficiency, common variable, 10 615577
- Unclassified antibody deficiency
- Hypogammaglobuliaemia
- central adrenal insufficiency
- immune dysregulation
- Common variable immunodeficiency disorders (CVID)
- Predominantly Antibody Deficiencies
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Version 3.29
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- Immunodeficiency, common variable, 10 615577
|
Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.28
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert Review
Phenotypes
- Immunodeficiency, common variable, 10 615577
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Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- Immunodeficiency, common variable, 10 615577
- Hypogammaglobuliaemia
- immune dysregulation
- central adrenal insufficiency
- Common variable immunodeficiency disorders (CVID)
- Unclassified antibody deficiency
- Recurrent sinopulmonary infections, alopecia and endorinopathies
- Predominantly Antibody Deficiencies
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert Review
Phenotypes
- Immunodeficiency, common variable, 10, 615577
- Bronchiectasis
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Version 1.184
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Immunodeficiency, common variable, 10, 615577
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