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| Autoimmune Lymphoproliferative Syndrome v1.10 | CASP8 | Zornitza Stark Publications for gene: CASP8 were set to 12353035; 25814141; 12654726; 17213198; 16148088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v1.9 | CASP8 | Zornitza Stark Classified gene: CASP8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v1.9 | CASP8 | Zornitza Stark Gene: casp8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v1.8 | CASP8 |
Zornitza Stark changed review comment from: Additional individual reported, bring up total to 7 individuals from 5 families. All had the same homozygous missense variant, p.Arg265Trp. Some known to be distantly related. CIDP was a common manifestation. GREEN but any variants apart from the founder variant should be treated with caution.; to: Additional individual reported, bring up total to 7 individuals from 5 families. All had the same homozygous missense variant, p.Arg265Trp. Some known to be distantly related. CIDP was a common manifestation. GREEN but any variants apart from the founder variant should be treated with caution. |
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| Autoimmune Lymphoproliferative Syndrome v1.8 | CASP8 | Zornitza Stark reviewed gene: CASP8: Rating: GREEN; Mode of pathogenicity: None; Publications: 41026346; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.4 | CASP8 | Ain Roesley Marked gene: CASP8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.4 | CASP8 | Ain Roesley Gene: casp8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.4 | CASP8 | Ain Roesley Classified gene: CASP8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.4 | CASP8 | Ain Roesley Gene: casp8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.3 | CASP8 |
Ain Roesley gene: CASP8 was added gene: CASP8 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: CASP8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP8 were set to 12353035; 25814141; 12654726; 17213198; 16148088 Phenotypes for gene: CASP8 were set to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Review for gene: CASP8 was set to AMBER gene: CASP8 was marked as current diagnostic Added comment: Amber due to functional studies 1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035) Mice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells. Sources: Literature |
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