Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COVID-19 research v0.171 | PAX1 | Sophie Hambleton reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: severe combined immunodeficiency, thymic aplasia, otofaciocervical syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
COVID-19 research v0.169 | PAX1 | Rebecca Foulger Classified gene: PAX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
COVID-19 research v0.169 | PAX1 | Rebecca Foulger Gene: pax1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
COVID-19 research v0.168 | PAX1 |
Rebecca Foulger gene: PAX1 was added gene: PAX1 was added to Viral susceptibility. Sources: Other,Literature Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAX1 were set to 28657137; 32111619 Phenotypes for gene: PAX1 were set to Otofaciocervical syndrome 2, 615560; Syndromic SCID Added comment: Added PAX1 to Viral susceptibility panel as Green to match recent addition of PAX1 to Primary immunodeficiency panel (Version 2.137). Sources: Other, Literature |