| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Common Variable Immunodeficiency v0.64 | PIK3R1 | Bryony Thompson Marked gene: PIK3R1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.64 | PIK3R1 | Bryony Thompson Gene: pik3r1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.64 | PIK3R1 | Bryony Thompson Classified gene: PIK3R1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.64 | PIK3R1 | Bryony Thompson Gene: pik3r1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.63 | PIK3R1 |
Bryony Thompson gene: PIK3R1 was added gene: PIK3R1 was added to Common Variable Immunodeficiency. Sources: Expert list Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3R1 were set to 32048120; 27076228 Phenotypes for gene: PIK3R1 were set to Immunodeficiency 36 MIM#616005 Review for gene: PIK3R1 was set to GREEN Added comment: 36 cases with PIK3R1-associated immunodeficiency were detected with c.1425+1G>A (42%), c.1425+1G>C (29%), c.1425+1G>T (13%). Four additional cases had mutations involving c.1425+2, and another had a G-C substitution at the -1 position of the splice acceptor site of exon 11. Analysis of patient mRNA demonstrated that all of the variants cause skipping of exon 11 (coding exon 10). On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120). Sources: Expert list |
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