Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RASGRP1Comment 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
Agree with green ratingCreated: 23 Oct 2019, 7:01 a.m. | Last Modified: 23 Oct 2019, 7:01 a.m.
Panel Version: 1.132
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
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
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 associationCreated: 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 idCreated: 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 reviewerCreated: 21 Sep 2018, 10:36 a.m.
Comment on publications: Added publications suggested by external reviewer to support upgrading of the gene to GreenCreated: 21 Sep 2018, 10:35 a.m.
Comment on mode of inheritance: added MOI suggested by external reviewer and from publicationsCreated: 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 ConditionsCreated: 6 Jul 2018, 12:34 p.m.
Gene: rasgrp1 has been classified as Green List (High Evidence).
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)
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
Source NHS GMS was added to RASGRP1.
Source North West GLH was added to RASGRP1.
Source London North GLH was added to RASGRP1.
Publications for gene: RASGRP1 were set to 30030704; 29282224
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
Gene: rasgrp1 has been classified as Green List (High Evidence).
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,
Publications for gene: RASGRP1 were set to
Mode of inheritance for gene: RASGRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
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.
Phenotypes for gene RASGRP1 were set to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma, Diseases of Immune Dysregulation
RASGRP1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
RASGRP1 was created by Louise Daugherty