Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: NRAS
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Certain somatic variants are linked to Ras-associated lymphoproliferative disorder but as there are several different linked phenotypes, caution required in reportingCreated: 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 mosiacismCreated: 9 May 2018, 10:21 a.m.
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 phenotypeCreated: 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17517660 seems to report one person with NRAS and this phenotype) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group.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: ENST00000369535Created: 17 Apr 2018, 12:12 p.m.
Source NHS GMS was added to NRAS.
Source North West GLH was added to NRAS.
Source London North GLH was added to NRAS.
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: nras has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: NRAS was changed from Unknown to Other - please specifiy in evaluation comments
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for NRAS were set to ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 614470; Autoimmune lymphoproliferative syndrome type IV; Ras associated lymphoproliferative disease (RALD)
Mode of inheritance for NRAS was changed from Unknown to Unknown
Publications for NRAS were set to 17517660; 21079152; 29141318; 5896945
Publications for NRAS were set to 17517660; 21079152
Expert Review Amber was added to NRAS. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to NRAS. Panel: Primary immunodeficiency disorders Phenotypes for gene NRAS were set to Autoimmune lymphoproliferative syndrome type IV, Ras associated lymphoproliferative disease (RALD)
Phenotypes for gene NRAS were set to Autoimmune lymphoproliferative syndrome type IV
GRID V2.0 was added to NRAS. Panel: Primary immunodeficiency disorders Phenotypes for gene NRAS were set to Autoimmune lymphoproliferative syndrome type IV
NRAS Source: GOSH PID 20171175 was removed from gene: NRAS
GOSH PID v.8.0 was added to NRAS. Panel: Primary immunodeficiency disorders
NRAS was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171175
NRAS was created by Louise Daugherty