| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Combined Immunodeficiency v0.362 | KDM6A | Zornitza Stark Marked gene: KDM6A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.362 | KDM6A | Zornitza Stark Gene: kdm6a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.190 | KDM6A | Bryony Thompson Classified gene: KDM6A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.190 | KDM6A | Bryony Thompson Gene: kdm6a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.189 | KDM6A |
Bryony Thompson gene: KDM6A was added gene: KDM6A was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: KDM6A were set to 31363182; 32048120 Phenotypes for gene: KDM6A were set to Kabuki syndrome 2 MIM#300867 Review for gene: KDM6A was set to GREEN Added comment: Around 50% of Kabuki syndrome cases have immunopathological manifestations Sources: Expert list |
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