Activity
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5 actions
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| Combined Immunodeficiency v0.192 | KMT2A | Bryony Thompson Marked gene: KMT2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.192 | KMT2A | Bryony Thompson Gene: kmt2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.192 | KMT2A | Bryony Thompson Classified gene: KMT2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.192 | KMT2A | Bryony Thompson Gene: kmt2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.191 | KMT2A |
Bryony Thompson gene: KMT2A was added gene: KMT2A was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2A were set to 32048120; 28623346; 27320412 Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome MIM#605130 Review for gene: KMT2A was set to AMBER Added comment: 4 cases with combined immunodeficiency from 2 unrelated families. Sources: Expert list |
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