Autoimmune Lymphoproliferative Syndrome
Gene: NRAS
PMID:39060684; 1x individual with Gly13Asp
PMID:17517660; 1x de novo GoF variant Gly13Asp.
NB: PMID:21079152 states that the paper above is a somatic variant. However, lymphoblasts, monocytes, and buccal epithelial cells, all demonstrating a heterozygous variant
PMID:33011939; review with 11x individuals
Gly13Asp, Gly12Val, Gly12Ser, Gly13Cys
Sources: LiteratureCreated: 15 Jan 2025, 12:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
autoimmune lymphoproliferative syndrome type 4 MONDO:0013767
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: nras has been classified as Green List (High Evidence).
Gene: nras has been classified as Green List (High Evidence).
gene: NRAS was added gene: NRAS was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NRAS were set to 39060684; 17517660; 33011939 Phenotypes for gene: NRAS were set to autoimmune lymphoproliferative syndrome type 4 MONDO:0013767 Review for gene: NRAS was set to GREEN gene: NRAS was marked as current diagnostic