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
- Expert Review Green
- IUIS Classification February 2018
- IUIS Classification December 2019
- GRID V2.0
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- T cell deficiency and various infectious diseases
- Combined immunodeficiency
- HPV infection, lung granulomas, molluscum contagiosum, lymphoma
- Epidermodysplasia verruciformis
- Immunodeficiencies affecting cellular and humoral immunity
- RhoH deficiency
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Version 1.6
Latest signed off version: v1.3
(15 Oct 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
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Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Other
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- RhoH deficiency
- T cell deficiency and various infectious diseases
- Epidermodysplasia verruciformis
- HPV infection, lung granulomas, molluscum contagiosum, lymphoma
- Immunodeficiencies affecting cellular and humoral immunity
- Combined immunodeficiency
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Version 1.182
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Amber
- Expert list
Phenotypes
- ?Spastic paraplegia 72, autosomal dominant, 615625
- ?Spastic paraplegia 72, autosomal recessive, 615625
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