Autoimmune Lymphoproliferative Syndrome

Gene: KRAS

Green List (high evidence)

KRAS (KRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 21 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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: Literature
Created: 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

History Filter Activity

22 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: kras has been classified as Green List (High Evidence).

22 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: kras has been classified as Green List (High Evidence).

22 Nov 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

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