| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Combined Immunodeficiency v1.78 | FOXI3 | Bryony Thompson Marked gene: FOXI3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.78 | FOXI3 | Bryony Thompson Gene: foxi3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.78 | FOXI3 | Bryony Thompson Classified gene: FOXI3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.78 | FOXI3 | Bryony Thompson Gene: foxi3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.77 | FOXI3 |
Bryony Thompson gene: FOXI3 was added gene: FOXI3 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXI3 were set to 35987349; 31600545 Phenotypes for gene: FOXI3 were set to thymic dysplasia MONDO:0004195 Review for gene: FOXI3 was set to AMBER Added comment: 2 cases with loss of function variants in FOXI3 that resulted in abnormal TRECs and T cell lymphopenia. Incomplete penetrance in both families (4 unaffected individuals with variant & 2 affected with variant). Also, 5 families with overlapping microdeletions at chromosome 2p11.2 that spanned FOXI3 with similar immunophenotypes that included selective T cell lymphopenia. Also, supporting mouse models. However, due to the incomplete penetrance the gene-disease association remains uncertain. Sources: Expert list |
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