Level 2: Viral research
Version 1.142
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- North West GLH
- Victorian Clinical Genetics Services
- Expert Review Amber
- North West GLH
- London North GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
- Autoinflammation, lipodystrophy, and dermatosis syndrome
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Version 4.202
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
|
Sources
- Expert Review Amber
- North West GLH
- London North GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591
- CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Tags
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Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 1.17
Latest signed off version: v1.0
(30 Nov 2022)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
- Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591
Tags
|