Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- ?Amyloidosis, familial visceral 105200
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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
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- North West GLH
- Victorian Clinical Genetics Services
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- GRID V2.0
Phenotypes
- Immunodeficiency 43,241600
- Immunodeficiency by defective expression of HLA class 1
- Sinopulmonary infections, cutaneous granulomas. Absent _2m associated proteins MHC-I, CD1a, CD1b, CD1c
- Immunodeficiencies affecting cellular and humoral immunity
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Version 1.21
Latest signed off version: v1.18
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- ?Amyloidosis, familial visceral 105200
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Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- GRID V2.0
Phenotypes
- Immunodeficiency 43,241600
- Immunodeficiency by defective expression of HLA class 1
- Sinopulmonary infections, cutaneous granulomas. Absent _2m associated proteins MHC-I, CD1a, CD1b, CD1c
- Immunodeficiencies affecting cellular and humoral immunity
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Version 1.184
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Amyloidosis, familial visceral
- Immunodeficiency 43, 241600
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