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Level 2: Viral research
Version 1.141
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- IUIS Classification February 2018
- IUIS Classification December 2019
- GRID V2.0
- Victorian Clinical Genetics Services
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- GRID V2.0
Phenotypes
- NFAT5 haploinsufficieny
- IBD, recurrent sinopulmonary infections
- Diseases of Immune Dysregulation
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Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Other
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- GRID V2.0
Phenotypes
- Diseases of Immune Dysregulation
- IBD, recurrent sinopulmonary infections
- NFAT5 haploinsufficieny
Tags
- Q4_23_promote_green
- Q4_23_NHS_review
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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 Red
- Expert list
Phenotypes
- Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600
- Adenomas, multiple colorectal, 608456
- Gastric cancer, somatic, 613659
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