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| Combined Immunodeficiency v1.80 | IKZF2 | Bryony Thompson Marked gene: IKZF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.80 | IKZF2 | Bryony Thompson Gene: ikzf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.80 | IKZF2 | Bryony Thompson Classified gene: IKZF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.80 | IKZF2 | Bryony Thompson Gene: ikzf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.79 | IKZF2 |
Bryony Thompson gene: IKZF2 was added gene: IKZF2 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: IKZF2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: IKZF2 were set to 34826260; 34826259; 34920454 Phenotypes for gene: IKZF2 were set to HELIOS deficiency MONDO:0800139 Review for gene: IKZF2 was set to GREEN Added comment: Cases present with a combined immunodeficiency phenotype characterised by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy. Incomplete penetrance is reported. IUIS IEI committee include this gene in the Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency subcategory of Immunodeficiencies affecting cellular and humoral immunity. Sources: Expert list |
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