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Primary immunodeficiency

Gene: KRAS

Amber List (moderate evidence)

KRAS (KRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 30 panels

2 reviews

Sophie Hambleton (Newcastle University)

I don't know

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

Louise Daugherty (Genomics England Curator)

I don't know

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.

History Filter Activity

12 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

27 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: kras has been classified as Amber List (Moderate Evidence).

27 Jun 2018, Gel status: 2

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

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

27 Jun 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: KRAS was changed from Other - please specify in evaluation comments to Unknown

27 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: KRAS were set to 21079152; 21063026

27 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: KRAS were set to RAS associated lymphoproliferative disease, 614470; RALD

20 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KRAS were set to Ras associated lymphoproliferative disease; RALD

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to KRAS. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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)

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene KRAS were set to Ras associated lymphoproliferative disease

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

KRAS was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

KRAS was created by Louise Daugherty