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STRs in panel
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COVID-19 research

Gene: RASGRP1

Green List (high evidence)

RASGRP1 (RAS guanyl releasing protein 1)
EnsemblGeneIds (GRCh38): ENSG00000172575
EnsemblGeneIds (GRCh37): ENSG00000172575
OMIM: 603962, Gene2Phenotype
RASGRP1 is in 4 panels

5 reviews

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
Phenotypes
  • Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma
  • Immunodeficiency 64, 618534
  • Diseases of Immune Dysregulation
  • Immunodeficiency
  • EBV-induced lymphoma
  • immunde dysregulation
OMIM
603962
Clinvar variants
Variants in RASGRP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: RASGRP1 was added gene: RASGRP1 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RASGRP1 were set to 27776107; 28822832; 30030704; 29282224; 29155103 Phenotypes for gene: RASGRP1 were set to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Immunodeficiency 64, 618534; Diseases of Immune Dysregulation; Immunodeficiency; EBV-induced lymphoma; immunde dysregulation