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| Defects of intrinsic and innate immunity v0.44 | TNFRSF11A | Bryony Thompson Marked gene: TNFRSF11A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.44 | TNFRSF11A | Bryony Thompson Gene: tnfrsf11a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.44 | TNFRSF11A | Bryony Thompson Classified gene: TNFRSF11A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.44 | TNFRSF11A | Bryony Thompson Gene: tnfrsf11a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v0.43 | TNFRSF11A |
Bryony Thompson gene: TNFRSF11A was added gene: TNFRSF11A was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF11A were set to 18606301; 32048120 Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 MIM#612301 Review for gene: TNFRSF11A was set to GREEN gene: TNFRSF11A was marked as current diagnostic Added comment: 8 patients from 7 unrelated families with severe osteoclast-poor osteopetrosis with homozygosity or compound heterozygosity for 7 different variants. The condition is associated with a defect in immunoglobulin production. Sources: Expert list |
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