Autoimmune Lymphoproliferative Syndrome
Gene: RASGRP1
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: LiteratureCreated: 15 Jan 2025, 2:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 64 MIM#618534
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: rasgrp1 has been classified as Amber List (Moderate Evidence).
Gene: rasgrp1 has been classified as Amber List (Moderate Evidence).
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