COVID-19 research
Gene: RIPK1Comment on mode of inheritance: "Please note recent report of mono-allelic variants in two families.
Zornitza Stark (Australian Genomics), 30 Apr 2020" - review copied from Primary immunodeficiency (Version 2.150).
"Comment on mode of inheritance: MOI updated from Biallelic to Both monoallelic and biallelic based on new evidence provided by Zornitza Stark (Australian Genomics). PMID: 31827280.
Ivone Leong (Genomics England Curator), 5 May 2020" - review copied from Primary immunodeficiency (Version 2.150).Created: 5 May 2020, 10:54 a.m. | Last Modified: 5 May 2020, 10:54 a.m.
Panel Version: 0.184
Definitely green!Created: 23 Oct 2019, 7:07 a.m. | Last Modified: 23 Oct 2019, 7:07 a.m.
Panel Version: 1.132
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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
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 list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene GreenCreated: 21 Sep 2018, 11:08 a.m.
From OMIM : Lourenco et al. (2018) PMID: 30026316 reports 4 patients from 3 unrelated consanguineous families with immunodeficiency-57 identifying homozygous loss-of-function mutations in the RIPK1 gene. The variants segregated with the disorder in the families and were not found in the gnomAD database. Functional studies of patient cells showed impaired mitogen-activated protein kinase activation, impaired phosphorylation of downstream signaling molecules, impaired proinflammatory signaling downstream of TNFR1 and TLR3 and defective secretion of certain cytokines. Similar results were observed in vitro in a monocyte-like cell line with CRISPR/Cas9-mediated knockdown of RAPK1. The findings indicated that RIPK1 plays a critical role in the human immune system.Created: 21 Sep 2018, 11:08 a.m.
Comment on phenotypes: added OMIM MIMid.Created: 21 Sep 2018, 11:02 a.m.
Comment on publications: PMID:30026316 reported four patients from three unrelated families with complete RIPK1deficiency caused by rare homozygous mutations. The patients suffered from recurrent infections, early-onset inflammatory bowel disease, and progressive polyarthritis.Created: 21 Sep 2018, 10:59 a.m.
Comment on publications: DOI: 10.1126/science.aar2641 = PMID: 30026316Created: 21 Sep 2018, 10:53 a.m.
Four individuals from three unrelated familiesCreated: 21 Jul 2018, 3:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe immunodeficiency, arthritis, and intestinal inflammation
Publications
Mode of inheritance for gene: RIPK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RIPK1 were set to 30026316
gene: RIPK1 was added gene: RIPK1 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,Literature Mode of inheritance for gene: RIPK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPK1 were set to 30026316 Phenotypes for gene: RIPK1 were set to Severe immunodeficiency, arthritis, and intestinal inflammation; Immunodeficiency 57, 618108