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Level 2: Viral research
Version 1.142
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- IUIS Classification December 2020
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- SLE
- pyogenic infections
- Complement component 1 deficiency
- SLE, infections with encapsulated organisms, Ehlers Danlos phenotype
- Complement Deficiencies
- C1r/C1s deficiency, combined, Lupus
- Immunodeficiency due to a classical component pathway complement deficiency
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- C1r/C1s deficiency, combined, Lupus
- Complement component 1 deficiency
- Immunodeficiency due to a classical component pathway complement deficiency
- SLE
- pyogenic infections
- SLE, infections with encapsulated organisms, Ehlers Danlos phenotype
- Complement Deficiencies
Tags
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Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Ehlers-Danlos syndrome, periodontal type, 1, OMIM:130080
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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 Green
- Expert list
Phenotypes
- Ehlers-Danlos syndrome, periodontal type, 1, 130080
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