Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: RIPK1

Green List (high evidence)

RIPK1 (receptor interacting serine/threonine kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000137275
EnsemblGeneIds (GRCh37): ENSG00000137275
OMIM: 603453, Gene2Phenotype
RIPK1 is in 3 panels

6 reviews

Ivone Leong (Genomics England Curator)

Comment 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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

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

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

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 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 Green
Created: 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: 30026316
Created: 21 Sep 2018, 10:53 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four individuals from three unrelated families
Created: 21 Jul 2018, 3:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe immunodeficiency, arthritis, and intestinal inflammation

Publications

  • DOI: 10.1126/science.aar2641, no PMID yet

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Severe immunodeficiency, arthritis, and intestinal inflammation
  • Immunodeficiency 57, 618108
OMIM
603453
Clinvar variants
Variants in RIPK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2020, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: RIPK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

5 May 2020, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RIPK1 were set to 30026316

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

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