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
- ESID Registry 20171117
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Trypanosomias
- Trypanosomiasis, susceptibility to
- Defects in Intrinsic and Innate Immunity
- Trypanosomiasis
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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, imprinted status unknown
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Sources
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Red
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Trypanosomias
- Trypanosomiasis
- Defects in Intrinsic and Innate Immunity
- Trypanosomiasis, susceptibility to
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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.118
Component of the following Super Panels:
Renal superpanel - broad
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review
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Not set
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Sources
- Eligibility statement prior genetic testing
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Version 3.40
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
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review
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Unknown
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Sources
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Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
- Eligibility statement prior genetic testing
Phenotypes
- {Focal Segmental Glomerulosclerosis 4, Susceptibility to} OMIM:612551
- {End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551
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Version 1.184
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Amber
- Expert list
Phenotypes
- {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551
- {End-stage renal disease, nondiabetic, susceptibility to}, 612551
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