Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.42
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- SCID/Hyper-IgM
- Severe combined immunodeficiency, B cell-negative 601457
- Omenn syndrome 603554
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.74
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
Phenotypes
- Inflammatory Bowel Disease (Very Early Onset)
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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
- SCID v1.6
- London North GLH
- GOSH PID v.8.0
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Combined B and T cell defect v1.12
- 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
- GOSH PID v.8.0
- SCID v1.6
- Combined B and T cell defect v1.12
Phenotypes
- Nl NK
- Severe combined immunodeficiency, B cell-negative, 601457
- Severe Combined Immune Deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Immunodeficiencies affecting cellular and humoral immunity
- T-B+ SCID
- Severe combined immunodeficiency, B cell-negative
- Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
- T-B- SCID
- RAG2 deficiency
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Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- OMENN SYNDROME, OMIM:603554
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Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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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
- SCID v1.6
- Combined B and T cell defect v1.12
Phenotypes
- Severe combined immunodeficiency, B cell-negative
- Severe Combined Immune Deficiency
- Severe combined immunodeficiency, B cell-negative, 601457
- T-B- SCID
- T-B+ SCID
- Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
- RAG2 deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
- Nl NK
- Immunodeficiencies affecting cellular and humoral immunity
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Version 3.9
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Expert Review
Phenotypes
- Combined immunodeficiency (CID)
- Combined immunodeficiency with granuloma and/or autoimmunity (CID-G/A)
- early onset and progressive lung disease
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Version 1.182
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Omenn syndrome, 603554
- Combined cellular and humoral immune defects with granulomas, 233650
- Severe combined immunodeficiency, B cell-negative, 601457
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