Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.43
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
Phenotypes
- SCID
- Autoimmune disease, multisystem, infantile-onset, 2 617006
Tags
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
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review
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Not set
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Sources
- Expert Review Amber
- UKGTN
Phenotypes
- Inflammatory Bowel Disease (Very Early Onset)
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Level 2: Viral research
Version 1.142
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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
- 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
Phenotypes
- Selective T-cell defect
- Combined immunodeficiency
- Autoimmune disease, multisystem, infantile-onset, 2
- Immunodeficiency 48
- Severe Combined Immune Deficiency
- Diseases of Immune Dysregulation
- Immunodeficiencies affecting cellular and humoral immunity
- Severe autoimmunity
- Zap-70 deficiency
- May have immune dysregulation, autoimmunity
- Severe combined immunodeficiency (SCID)
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Version 4.202
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
Phenotypes
- Autoimmune disease, multisystem, infantile-onset, 2
- Immunodeficiency 48
- Severe Combined Immune Deficiency
- Selective T-cell defect
- Zap-70 deficiency
- Combined immunodeficiency
- Severe combined immunodeficiency (SCID)
- May have immune dysregulation, autoimmunity
- Immunodeficiencies affecting cellular and humoral immunity
- Severe autoimmunity
- Diseases of Immune Dysregulation
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Version 1.184
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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
- Autoimmune disease, multisystem, infantile-onset, 2, 617006
- Immunodeficiency 48, 269840
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