Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Immunodeficiency, common variable, 1 607594
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Early Onset Inflammatory Bowel Disease
- Immunodeficiency, common variable, 1 607594
|
Level 2: Viral research
Version 1.142
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification February 2018
- A- or hypo-gammaglobulinaemia v1.25
- London North GLH
- GOSH PID v.8.0
- 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
- Expert Review Green
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- combined immunodeficiency
- Isolated IgG subclass deficiency
- gammaglobulinaemia
- Immunodeficiency, common variable, 1, 607594
- Immunodeficiencies affecting cellular and humoral immunity
- Common variable immunodeficiency disorders (CVID)
- hypogammaglobulinaemia
- Immunodeficiency, common variable, 1
- Recurrent infections, autoimmunity, gastroenteritis, granulomas
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Immunodeficiency, common variable, 1, OMIM:607594
|
Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- Immunodeficiency, common variable, 1
- Immunodeficiency, common variable, 1, 607594
- Common variable immunodeficiency disorders (CVID)
- Isolated IgG subclass deficiency
- hypogammaglobulinaemia
- gammaglobulinaemia
- combined immunodeficiency
- Recurrent infections, autoimmunity, gastroenteritis, granulomas
- Immunodeficiencies affecting cellular and humoral immunity
Tags
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Immunodeficiency, common variable, 1, 607594
|