| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Combined Immunodeficiency v2.0 | SIT1 | Gene migrated from ENSG00000137078 to ENSG00000137078 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.150 | SIT1 | Zornitza Stark Marked gene: SIT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.150 | SIT1 | Zornitza Stark Gene: sit1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.150 | SIT1 | Zornitza Stark Phenotypes for gene: SIT1 were changed from recalcitrant warts; hodgkins lymphoma to Inborn error of immunity, MONDO:0003778, SIT1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.149 | SIT1 | Zornitza Stark Classified gene: SIT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.149 | SIT1 | Zornitza Stark Gene: sit1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.148 | SIT1 |
Peter McNaughton gene: SIT1 was added gene: SIT1 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: SIT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIT1 were set to PMID: 42128181 Phenotypes for gene: SIT1 were set to recalcitrant warts; hodgkins lymphoma Review for gene: SIT1 was set to AMBER Added comment: 48-year-old male patient presenting with recalcitrant warts, two different Hodgkin’s lymphomas at the age of 26 and 39 and combined immunodeficiency. Findings robustly supported by multimodal data including KO cell model and partial rescue of cellular phenotype with knock in. Amber for single proband. Sources: Literature |
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