Level 2: Viral research
Version 1.141
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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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
- Immunodeficiency, common variable, 13, 616873
- IKAROS deficiency
- Immunodeficiency, common variable 13
- Predominantly Antibody Deficiencies
- Recurrent sinopulmonary infections
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Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
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, 13, 616873
- Immunodeficiency, common variable 13
- IKAROS deficiency
- Recurrent sinopulmonary infections
- Predominantly Antibody Deficiencies
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- BRIDGE consortium (NIHRBR-RD)
Phenotypes
- Acute lymphoblastic leukemia (ALL)
- Immunodeficiency, common variable, 13 616873
Tags
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Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Acute lymphoblastic leukaemia (ALL)
- Immunodeficiency, common variable, 13, OMIM:616873
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Version 3.32
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- NHS GMS
- Expert Review Amber
- Wessex and West Midlands GLH
Phenotypes
- Acute lymphoblastic leukemia (ALL)
- Immunodeficiency, common variable, 13,616873
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Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Immunodeficiency, common variable, 13, 616873
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