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Primary immunodeficiency or monogenic inflammatory bowel disease v8.18 RIPK1 Achchuthan Shanmugasundram 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
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RIPK1 Arina Puzriakova Tag for-review was removed from gene: RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RIPK1 Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RIPK1 Arina Puzriakova commented on gene: RIPK1: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 RIPK1 Arina Puzriakova commented on gene: RIPK1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.368 RIPK1 Arina Puzriakova Tag for-review tag was added to gene: RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.150 RIPK1 Ivone Leong Publications for gene: RIPK1 were set to 30026316; 30591564; 31213653; 31827280
Primary immunodeficiency or monogenic inflammatory bowel disease v2.149 RIPK1 Ivone Leong Added comment: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.149 RIPK1 Ivone Leong Mode of inheritance for gene: RIPK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.148 RIPK1 Ivone Leong Publications for gene: RIPK1 were set to 30026316
Primary immunodeficiency or monogenic inflammatory bowel disease v2.139 RIPK1 Zornitza Stark edited their review of gene: RIPK1: Added comment: Please note recent report of mono-allelic variants in two families.; Changed publications: 30026316, 30591564, 31213653, 31827280; Changed phenotypes: Severe immunodeficiency, arthritis, and intestinal inflammation, Immunodeficiency 57, MIM#618108; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 RIPK1 Sophie Hambleton reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30026316; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RIPK1 Louise Daugherty commented on gene: RIPK1: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RIPK1 Louise Daugherty commented on gene: RIPK1: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RIPK1 Kimberly Gilmour reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RIPK1 Tracy Briggs reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RIPK1 Louise Daugherty Source NHS GMS was added to RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RIPK1 Louise Daugherty Source North West GLH was added to RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RIPK1 Louise Daugherty Source London North GLH was added to RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.17 RIPK1 Louise Daugherty Classified gene: RIPK1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.17 RIPK1 Louise Daugherty Added comment: 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
Primary immunodeficiency or monogenic inflammatory bowel disease v1.17 RIPK1 Louise Daugherty Gene: ripk1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.16 RIPK1 Louise Daugherty edited their review of gene: RIPK1: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.16 RIPK1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.16 RIPK1 Louise Daugherty Phenotypes for gene: RIPK1 were changed from Severe immunodeficiency, arthritis, and intestinal inflammation to Immunodeficiency 57, 618108; Severe immunodeficiency, arthritis, and intestinal inflammation
Primary immunodeficiency or monogenic inflammatory bowel disease v1.15 RIPK1 Louise Daugherty Added comment: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.15 RIPK1 Louise Daugherty Publications for gene: RIPK1 were set to 30026316
Primary immunodeficiency or monogenic inflammatory bowel disease v1.14 RIPK1 Louise Daugherty Added comment: Comment on publications: DOI: 10.1126/science.aar2641 = PMID: 30026316
Primary immunodeficiency or monogenic inflammatory bowel disease v1.14 RIPK1 Louise Daugherty Publications for gene: RIPK1 were set to DOI: 10.1126/science.aar2641, no PMID yet
Primary immunodeficiency or monogenic inflammatory bowel disease RIPK1 Zornitza Stark Added gene to panel