Autoimmune Lymphoproliferative Syndrome
Gene: KRAS
Recurrent variant Gly13Cys
PMID:39060684
2x individuals with atypical ALPS - Gly13Cys
PMID:27577878
1x de novo mosaic in blood individual with ALPS - Gly13Cys
PMID:21079152
1x individual with ALPS-like syndrome somatic for Gly13Cys
1x individual with ALPS-like syndrome somatic for Gly12Asp
Sources: LiteratureCreated: 22 Nov 2024, 5:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
RAS-associated autoimmune leukoproliferative disorder MIM#614470
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: kras has been classified as Green List (High Evidence).
Gene: kras has been classified as Green List (High Evidence).
gene: KRAS was added gene: KRAS was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRAS were set to 27577878; 39060684; 21079152 Phenotypes for gene: KRAS were set to RAS-associated autoimmune leukoproliferative disorder MIM#614470 Review for gene: KRAS was set to GREEN gene: KRAS was marked as current diagnostic