Activity
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5 actions
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| Autoimmune Lymphoproliferative Syndrome v0.32 | RASGRP1 | Zornitza Stark Marked gene: RASGRP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.32 | RASGRP1 | Zornitza Stark Gene: rasgrp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.28 | RASGRP1 | Ain Roesley Classified gene: RASGRP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.28 | RASGRP1 | Ain Roesley Gene: rasgrp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.27 | RASGRP1 |
Ain Roesley gene: RASGRP1 was added gene: RASGRP1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RASGRP1 were set to 29155103; 39752212 Phenotypes for gene: RASGRP1 were set to Immunodeficiency 64 MIM#618534 Review for gene: RASGRP1 was set to AMBER gene: RASGRP1 was marked as current diagnostic Added comment: PMID:29155103; 2 siblings Chet for Thr214Ile and Lys322* PMID:39752212; 1x hom 'LoF' variant (unable to access paper) PMID: 39278845; 1x patient from a cohort of autoimmune lymphoproliferative immunodeficiencies. Thr312Ala. did not indicate if homozygous or single hit Amber due to quality of papers/journals Sources: Literature |
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