Level 2: Viral research
Version 1.142
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review
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BIALLELIC, autosomal or pseudoautosomal
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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)
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- North West GLH
- London North GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591
- CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Tags
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Version 4.52
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 Green
- NHS GMS
- Expert list
Phenotypes
- ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591
Tags
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Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 2.1
Latest signed off version: v2.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
- Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591
Tags
|