Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.42
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Severe combined immunodeficiency, X-linked 300400
Tags
|
Level 3: Clinical trials
Level 2: Actionable information
Version 0.9
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review
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Not set
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Sources
- Expert Review Green
- ClinicalTrials.gov
Phenotypes
- X-linked Severe Combined Immunodeficiency
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.74
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- Inflammatory Bowel Disease (Very Early Onset)
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Level 2: Viral research
Version 1.141
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
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
- Severe combined immunodeficiency, X-linked
- Combined immunodeficiency, X-linked, moderate
- Severe Combined Immune Deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Immunodeficiencies affecting cellular and humoral immunity
- SCID
- Severe combined immunodeficiency, X-linked, 300400
- T-B+ SCID
- SCID (x-linked)
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
- Low NK
|
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
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
- Combined immunodeficiency, X-linked, moderate
- Severe combined immunodeficiency, X-linked
- Severe combined immunodeficiency, X-linked, 300400
- Severe Combined Immune Deficiency
- T-B+ SCID
- SCID
- SCID (x-linked)
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
- Low NK
- Immunodeficiencies affecting cellular and humoral immunity
Tags
|
Version 1.182
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Combined immunodeficiency, X-linked, moderate, 312863
- Severe combined immunodeficiency, X-linked, 300400
|
Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- NHS GMS
- Expert Review Green
|