Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: NRAS

Green List (high evidence)

agree with green gene

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

YES- this is covered on our targeted exome

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

I don't know

Certain somatic variants are linked to Ras-associated lymphoproliferative disorder but as there are several different linked phenotypes, caution required in reporting

Created: 29 Jun 2018, 3 p.m.

Mode of inheritance
Other

Comment on list classification: Associated with ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 614470 in OMIM and not in Gen2Phen. At least 1 SOMATIC variant identified in unrelated cases.

Created: 9 May 2018, 10:26 a.m.

Comment on mode of inheritance: Somatic mosiacism

Created: 9 May 2018, 10:21 a.m.

I don't know

Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.

Created: 12 Nov 2019, 5:02 p.m. | Last Modified: 12 Nov 2019, 5:02 p.m.

Panel Version: 1.137

Noonan (plus malignancies in somatic variants): ?relevant phenotype

Created: 26 Sep 2019, 3:57 p.m. | Last Modified: 26 Sep 2019, 3:57 p.m.

Panel Version: 1.130

This is a relevant phenotype but there is not enough evidence in the literature to date (PMID: 17517660 seems to report one person with NRAS and this phenotype) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.

Created: 17 Sep 2019, 5:21 p.m. | Last Modified: 17 Sep 2019, 5:21 p.m.

Panel Version: 1.101

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

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: N-Ras, PanelApp HGNC gene symbol check: NRAS, 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: NRAS, GRID_Gene_Symbol: NRAS, GRID_Transcript_ENS_Community submitted: ENST00000369535, GRID_Transcript_RefSeq: NM_002524.4, GRID_Transcript_ENS_used_on_Production: ENST00000369535

Created: 17 Apr 2018, 12:12 p.m.