Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 3
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss 2

Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RIPK1

RIPK1 (receptor interacting serine/threonine kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000137275
EnsemblGeneIds (GRCh37): ENSG00000137275
OMIM: 603453, Gene2Phenotype
RIPK1 is in 4 panels

7 reviews

Arina Puzriakova (Genomics England Curator)

The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:33 a.m.

Panel Version: 2.529

Added 'for-review' tag as the MOI has changed since previous sign-off of this panel (version 2.1) and requires review by the Specialist Test Group.
Created: 21 Oct 2020, 4:32 p.m. | Last Modified: 21 Oct 2020, 4:32 p.m.

Panel Version: 2.368

Created: 21 Oct 2020, 4:32 p.m.
Last Modified: 4 Mar 2022, 10:33 a.m.
Panel version: 2.529

Ivone Leong (Genomics England Curator)

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.
Created: 5 May 2020, 10:52 a.m. | Last Modified: 5 May 2020, 10:52 a.m.

Panel Version: 2.149

Created: 5 May 2020, 10:52 a.m.
Last Modified: 5 May 2020, 10:52 a.m.
Panel version: 2.149

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

30026316

Created: 23 Oct 2019, 7:07 a.m.
Last Modified: 23 Oct 2019, 7:07 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

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

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.

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

Panel version: 1.94

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note recent report of mono-allelic variants in two families.
Created: 30 Apr 2020, 11:03 p.m. | Last Modified: 30 Apr 2020, 11:03 p.m.

Panel Version: 2.139

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

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Severe immunodeficiency, arthritis, and intestinal inflammation; Immunodeficiency 57, MIM#618108

Publications

Created: 21 Jul 2018, 3:11 a.m.

Panel version: 2.139

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
North West GLH
London North GLH
Expert Review Green

Phenotypes

Autoinflammation with episodic fever and lymphadenopathy, OMIM:618852
Immunodeficiency 57 with autoinflammation, OMIM: 618108

OMIM

603453

Clinvar variants

Variants in RIPK1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Jun 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: RIPK1 were changed from Immunodeficiency 57, 618108; Severe immunodeficiency, arthritis, and intestinal inflammation to Autoinflammation with episodic fever and lymphadenopathy, OMIM:618852; Immunodeficiency 57 with autoinflammation, OMIM: 618108

4 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: RIPK1.

21 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: RIPK1.

5 May 2020, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RIPK1 were set to 30026316; 30591564; 31213653; 31827280

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

17 Sep 2019, Gel status: 3