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 Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- ADAM-17 deficiency
- ?Inflammatory skin and bowel disease, neonatal, 1, OMIM:614328
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Expert list
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- ?Inflammatory skin and bowel disease, neonatal, 1 614328
- Gastrointestinal epithelial barrier disorders
- Immunodeficiency 33, 300636
- Immunodeficiency, isolated, 300584
- ?Inflammatory skin and bowel disease, neonatal, 1, 614328
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Level 2: Viral research
Version 1.142
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- IUIS Classification February 2018
- IUIS Classification December 2019
- London North GLH
- GOSH PID v.8.0
- NHS GMS
- GRID V2.0
- North West GLH
- Victorian Clinical Genetics Services
- IUIS Classification December 2019
- North West GLH
- London North GLH
- NHS GMS
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- GRID V2.0
- GOSH PID v.8.0
Phenotypes
- IBD-1
- ADAM17 deficiency
- Inflammatory skin and bowel disease, neonatal, 1
- Inflammatory skin and bowel disease, neonatal 1, 614328
- Autoinflammatory Disorders
- inflammatory skin
- Early onset diarrhea and skin lesions
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Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- ?Inflammatory skin and bowel disease, neonatal, 1, OMIM:614328
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Version 3.25
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Inflammatory skin and bowel disease, neonatal
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Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- IUIS Classification December 2019
- North West GLH
- London North GLH
- NHS GMS
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- GRID V2.0
- GOSH PID v.8.0
Phenotypes
- inflammatory skin
- Inflammatory skin and bowel disease, neonatal, 1
- Inflammatory skin and bowel disease, neonatal 1, 614328
- ADAM17 deficiency
- Autoinflammatory Disorders
- IBD-1
- Early onset diarrhea and skin lesions
- Recurrent infections
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Amber
- Expert list
Phenotypes
- ?Inflammatory skin and bowel disease, neonatal, 1, 614328
|