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| Vasculitis v0.35 | TAP2 | Zornitza Stark Marked gene: TAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vasculitis v0.35 | TAP2 | Zornitza Stark Gene: tap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vasculitis v0.35 | TAP2 | Zornitza Stark Classified gene: TAP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vasculitis v0.35 | TAP2 | Zornitza Stark Gene: tap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vasculitis v0.34 | TAP2 |
Zornitza Stark gene: TAP2 was added gene: TAP2 was added to Vasculitis. Sources: Expert Review Mode of inheritance for gene: TAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAP2 were set to 7517574; 9232449; 10560675; 27861817 Phenotypes for gene: TAP2 were set to Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis Review for gene: TAP2 was set to GREEN Added comment: 5 individuals from 4 unrelated families reported with TAP2 variants resulting in BLS type 1; two mouse models Homozygous missense variants resulting in premature stop codons were identified. Individuals typically presented with recurrent respiratory bacterial infections and reduced CD8+ cells with granulomatous lesions and/or skin vasculitis. Sources: Expert Review |
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