| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Autoimmune Lymphoproliferative Syndrome v0.10 | FASLG | Ain Roesley Classified gene: FASLG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.10 | FASLG | Ain Roesley Gene: faslg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.9 | FASLG |
Ain Roesley gene: FASLG was added gene: FASLG was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: FASLG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASLG were set to 16627752; 17605793; 19794494; 8787672; 22857792; 33356695; 26334989; 25451160 Phenotypes for gene: FASLG were set to Autoimmune lymphoproliferative syndrome, type IB MIM#601859 Review for gene: FASLG was set to GREEN gene: FASLG was marked as current diagnostic Added comment: Sufficient evidence for AR gene-disease association. Limited evidence for AD gene-disease association PMID: 22857792, 16627752, 26334989, 25451160 - 4 unrelated ALPS families reported with biallelic variants with a loss of function mechanism PMID: 11457890, 19794494 - supporting deficient mouse models PMID: 8787672, 17605793 - a single case (p.Met158_Glu185del) and a single family (p.Arg156Gly) reported with heterozygous variants, supporting dominant inheritance of dominant-negative variants. Another case reported with a rare VUS (p.Met86Val) that didn't alter protein function. Sources: Literature |
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