COVID-19 research
Gene: KRAS
More related to cancer pathologyCreated: 10 Apr 2020, 7:28 a.m. | Last Modified: 10 Apr 2020, 7:28 a.m.
Panel Version: 0.81
Comment on mode of inheritance: Autosomal (AD) inheritance listed in OMIM for MIM:614470.Created: 2 Apr 2020, 4:11 p.m. | Last Modified: 2 Apr 2020, 4:11 p.m.
Panel Version: 0.43
PMID:21063026. In 2 unrelated children with RAS-associated autoimmune leukoproliferative disorder (RALD; MIM:614470), Takagi et al. (2011) identified a somatic heterozygous G13D mutation in the KRAS gene.Created: 2 Apr 2020, 4:11 p.m. | Last Modified: 2 Apr 2020, 4:11 p.m.
Panel Version: 0.42
Somatic GOF variants expressed within the haematopoietic system are associated with a syndrome of autoimmunity and lymphoproliferation. Germline variants not described to date.Created: 20 Jun 2018, 8:03 p.m.
Mode of inheritance
Unknown
Phenotypes
RALD
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Comment on publications: Added publications suggested from external expert review to support phenotypeCreated: 27 Jun 2018, 10:13 a.m.
Keep Amber. The pattern of inheritance for RALD is not known. RAS mutations are considered somatic and limited to the circulating peripheral blood mononuclear cells.Created: 27 Jun 2018, 10:11 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: K-Ras, PanelApp HGNC gene symbol check: KRAS, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Autoimmune lymphoproliferative syndrome (ALPS) / Ras associated lymphoproliferative disease (RALD)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: KRAS, GRID_Gene_Symbol: KRAS, GRID_Transcript_ENS_Community submitted: ENST00000256078, GRID_Transcript_RefSeq: NM_033360.3, GRID_Transcript_ENS_used_on_Production: ENST00000256078Created: 17 Apr 2018, 12:12 p.m.
Mode of inheritance for gene: KRAS was changed from Unknown to Unknown
Phenotypes for gene: KRAS were changed from RAS associated lymphoproliferative disease, 614470; RALD to RALD; RAS-associated autoimmune leukoproliferative disorder, 614470
gene: KRAS was added gene: KRAS was added to Viral susceptibility. Sources: GRID V2.0,ESID Registry 20171117,Expert Review Amber Mode of inheritance for gene: KRAS was set to Unknown Publications for gene: KRAS were set to 21079152; 21063026 Phenotypes for gene: KRAS were set to RAS associated lymphoproliferative disease, 614470; RALD Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments