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| Severe Combined Immunodeficiency v1.15 | Bryony Thompson Copied gene AK2 from panel Severe Combined Immunodeficiency (absent T absent B cells) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency v1.15 | AK2 |
Bryony Thompson gene: AK2 was added gene: AK2 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services treatable tags were added to gene: AK2. Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AK2 were set to 19043417; 19043416; 33628209 Phenotypes for gene: AK2 were set to Reticular dysgenesis MIM# 267500; MONDO:0009973; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness |
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