Primary immunodeficiencyGene: KRAS
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
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 phenotype
Created: 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: ENST00000256078
Created: 17 Apr 2018, 12:12 p.m.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: kras has been classified as Amber List (Moderate Evidence).
Mode of pathogenicity for gene: KRAS was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for gene: KRAS was changed from Other - please specify in evaluation comments to Unknown
Publications for gene: KRAS were set to 21079152; 21063026
Phenotypes for gene: KRAS were set to RAS associated lymphoproliferative disease, 614470; RALD
Phenotypes for KRAS were set to Ras associated lymphoproliferative disease; RALD
Expert Review Amber was added to KRAS. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to KRAS. Panel: Primary immunodeficiency disorders Phenotypes for gene KRAS were set to Ras associated lymphoproliferative disease, Ras associated lymphoproliferative disease (RALD)
Phenotypes for gene KRAS were set to Ras associated lymphoproliferative disease
KRAS was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
KRAS was created by Louise Daugherty