| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe Combined Immunodeficiency (absent T present B cells) v1.9 | TP63 | Zornitza Stark Marked gene: TP63 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.9 | TP63 | Zornitza Stark Gene: tp63 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.9 | TP63 | Zornitza Stark Phenotypes for gene: TP63 were changed from lymphopaenia to Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; lymphopaenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.8 | TP63 | Zornitza Stark Classified gene: TP63 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.8 | TP63 | Zornitza Stark Gene: tp63 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.7 | TP63 | Zornitza Stark reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: 39364398; Phenotypes: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.6 | TP63 |
Peter McNaughton gene: TP63 was added gene: TP63 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TP63 were set to doi: 10.3389/fimmu.2024.1438383 Phenotypes for gene: TP63 were set to lymphopaenia Review for gene: TP63 was set to GREEN Added comment: Multiple patients presenting with T cell lymphopaenia, potentially identified on SCID new born screening. T cell lymphopaenia due to thymic defect rather than intrinsic T cell defect so treatment is with thymic transplant rather than HSCT. Should be included in SCID panel as identification of this gene defect in lymphopaenic patients identified on SCID NBS will change treatment pathway dramatically. Sources: Literature |
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