Level 2: Viral research
Version 1.141
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- Literature
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- ESID Registry 20171117
Phenotypes
- Infections
- haemolytic anaemia
- Congenital defects of phagocyte number or function
- Susceptibility to viral infection
- chronic granulomatous disease-like susceptibility to infection
- Glucose-6-phosphate dehydrogenase deficiency (G6PD)
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Version 4.195
Latest signed off version: v4.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Expert Review Green
- ESID Registry 20171117
Phenotypes
- Glucose-6-phosphate dehydrogenase deficiency (G6PD)
- haemolytic anaemia
- chronic granulomatous disease-like susceptibility to infection
- Infections
- Congenital defects of phagocyte number or function
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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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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hemolytic anemia due to G6PD deficiency, 300908
- Enzyme Disorder
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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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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- Hemolytic anemia due to G6PD deficiency, 300908
- 300908 Hemolytic anemia due to G6PD deficiency
- 300908 Hemolytic anemia, G6PD deficient (favism)
- Enzyme Disorder
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Version 1.182
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hemolytic anemia, G6PD deficient (favism), 300908
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