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| DDG2P v3.12 | JAK3 | Achchuthan Shanmugasundram reviewed gene: JAK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 7659163, 10982185, 7481768, 11741532; Phenotypes: SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED, OMIM:600802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | JAK3 | Achchuthan Shanmugasundram Publications for gene: JAK3 were updated from 10982185; 7659163; 11741532; 7481768 to 7659163; 10982185; 7481768; 11741532 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | JAK3 | Rebecca Foulger reviewed gene: JAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | JAK3 |
Rebecca Foulger gene: JAK3 was added gene: JAK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAK3 were set to 10982185; 7659163; 11741532; 7481768 Phenotypes for gene: JAK3 were set to SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED 600802 |
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