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
- 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
- Primary CD59 deficiency
- paroxysmal nocturnal haemoglobinuria
- CD59 antigen P18-20 deficiency (CD59)
- Hemolytic anemia, polyneuropathy
- Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
- childhood relapsing immune-mediated polyneuropathy
- Complement Deficiencies
- chronic hemolysis
- Membrane Attack Complex Inhibitor (CD59) deficiency
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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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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
- Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
- CD59 antigen P18-20 deficiency (CD59)
- Membrane Attack Complex Inhibitor (CD59) deficiency
- Primary CD59 deficiency
- paroxysmal nocturnal haemoglobinuria
- chronic hemolysis
- childhood relapsing immune-mediated polyneuropathy
- Hemolytic anemia, polyneuropathy
- Complement Deficiencies
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
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Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- North West GLH
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- 305000 Dyskeratosis congenita, X-linked
- Dyskeratosis congenita, X-linked, 305000
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
- Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
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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
- NHS GMS
- London North GLH
Phenotypes
- Onset 1st and 2nd decade. Haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy
- Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
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Version 1.184
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
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