| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe Combined Immunodeficiency (absent T absent B cells) v1.7 | PSMB10 | Zornitza Stark Marked gene: PSMB10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.7 | PSMB10 | Zornitza Stark Gene: psmb10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.7 | PSMB10 | Zornitza Stark Classified gene: PSMB10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.7 | PSMB10 | Zornitza Stark Gene: psmb10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.6 | PSMB10 |
Zornitza Stark gene: PSMB10 was added gene: PSMB10 was added to Severe Combined Immunodeficiency (absent T absent B cells). Sources: Literature Mode of inheritance for gene: PSMB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSMB10 were set to 38503300 Phenotypes for gene: PSMB10 were set to Severe combined immunodeficiency, MONDO:0015974, PSMB10-related Review for gene: PSMB10 was set to GREEN Added comment: Six individuals with three de novo missense variants. Individuals presented with T-B-NK± severe combined immunodeficiency (SCID) and clinical features suggestive of Omenn syndrome, including diarrhea, alopecia, and desquamating erythematous rash. Sources: Literature |
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