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Primary immunodeficiency

Gene: NRAS

Amber List (moderate evidence)

NRAS (NRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 26 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

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

Tracy Briggs (Manchester Genomic Medicine Centre)

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

Sophie Hambleton (Newcastle University)

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

Sarah Leigh (Genomics England Curator)

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.

Louise Daugherty (Genomics England Curator)

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17517660 seems to report one person with NRAS and this phenotype) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group.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.

History Filter Activity

17 Sep 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NRAS.

17 Sep 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to NRAS.

17 Sep 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to NRAS.

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.

6 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

6 Jul 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

9 May 2018, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 May 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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)

9 May 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for NRAS was changed from Unknown to Unknown

9 May 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NRAS were set to 17517660; 21079152; 29141318; 5896945

9 May 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NRAS were set to 17517660; 21079152

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to NRAS. 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 NRAS. Panel: Primary immunodeficiency disorders Phenotypes for gene NRAS were set to Autoimmune lymphoproliferative syndrome type IV, Ras associated lymphoproliferative disease (RALD)

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene NRAS were set to Autoimmune lymphoproliferative syndrome type IV

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to NRAS. Panel: Primary immunodeficiency disorders Phenotypes for gene NRAS were set to Autoimmune lymphoproliferative syndrome type IV

6 Apr 2018, Gel status: 1

Clear Sources

Louise Daugherty (Genomics England Curator)

NRAS Source: GOSH PID 20171175 was removed from gene: NRAS

6 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to NRAS. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

NRAS was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171175

29 Mar 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

NRAS was created by Louise Daugherty