Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: RASGRP1

Green List (high evidence)

RASGRP1 (RAS guanyl releasing protein 1)
EnsemblGeneIds (GRCh38): ENSG00000172575
EnsemblGeneIds (GRCh37): ENSG00000172575
OMIM: 603962, Gene2Phenotype
RASGRP1 is in 3 panels

6 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 14 Oct 2020, 4:19 p.m. | Last Modified: 14 Oct 2020, 4:19 p.m.
Panel Version: 2.303
The following PubMed IDs were added to gene RASGRP1 (OMIM gene MIM#603962): 29155103;30030704;27776107. These publications have been associated with the gene by the immunedysregulation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208

Publications

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Agree with green rating
Created: 23 Oct 2019, 7:01 a.m. | Last Modified: 23 Oct 2019, 7:01 a.m.
Panel Version: 1.132

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two recent papers describing 4 families with variants in this gene and a range of immune phenotypes.
Created: 23 Aug 2018, 4:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, immunde dysregulation, EBV-induced lymphoma

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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
Comment on publications: added further publications to further support gene-disease association
Created: 19 Aug 2019, 9:27 a.m. | Last Modified: 19 Aug 2019, 9:27 a.m.
Panel Version: 1.53
Comment on phenotypes: added OMIM MIM id
Created: 19 Aug 2019, 9:22 a.m. | Last Modified: 19 Aug 2019, 9:22 a.m.
Panel Version: 1.52
Comment on list classification: Changed status from Red to Green from external review and reference to two recent publications, Somekh I et al., PMID: 30030704 (2018) and Winter S et al., PMID: 29282224, there are more than three unrelated families described with immunodeficiency phenotype.
Created: 21 Sep 2018, 10:43 a.m.
Comment on phenotypes: added phenotypes suggested by external reviewer
Created: 21 Sep 2018, 10:36 a.m.
Comment on publications: Added publications suggested by external reviewer to support upgrading of the gene to Green
Created: 21 Sep 2018, 10:35 a.m.
Comment on mode of inheritance: added MOI suggested by external reviewer and from publications
Created: 21 Sep 2018, 10:34 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): RASGRP1 .PanelApp HGNC gene symbol check: RASGRP1 . IUIS Disease: RASGRP1 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Poor activation, proliferation, motility, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Susceptibility to EBV and Lymphoproliferative Conditions
Created: 6 Jul 2018, 12:34 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
Phenotypes
  • Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma
  • Diseases of Immune Dysregulation
  • EBV-induced lymphoma
  • Immunodeficiency
  • Immunodeficiency 64, 618534
  • Immunodeficiency
  • immunde dysregulation
  • EBV-induced lymphoma
OMIM
603962
Clinvar variants
Variants in RASGRP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: rasgrp1 has been classified as Green List (High Evidence).

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Other was added to RASGRP1. Publications for gene RASGRP1 were updated from 30030704; 29282224; 29155103; 28822832; 27776107 to 29155103; 28822832; 29282224; 27776107; 30030704 Rating Changed from Green List (high evidence) to Red List (low evidence)

30 Oct 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RASGRP1 were changed from Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency; Immunodeficiency 64, 618534 to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency; Immunodeficiency 64, 618534; Immunodeficiency; immunde dysregulation; EBV-induced lymphoma

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RASGRP1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to RASGRP1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to RASGRP1.

19 Aug 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RASGRP1 were set to 30030704; 29282224

19 Aug 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RASGRP1 were changed from Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency, to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency; Immunodeficiency 64, 618534

21 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: rasgrp1 has been classified as Green List (High Evidence).

21 Sep 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RASGRP1 were changed from Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency,

21 Sep 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RASGRP1 were set to

21 Sep 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: RASGRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal

12 Jul 2018, Gel status: 1

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.

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene RASGRP1 were set to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma, Diseases of Immune Dysregulation

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

RASGRP1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

RASGRP1 was created by Louise Daugherty