Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: KRAS

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

• 21079152
• 21063026

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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.