28 Feb 2020
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36
C1R
Louise Daugherty edited their review of gene: C1R: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 27745832
28 Feb 2020
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35
C1R
Louise Daugherty Publications for gene C1R were updated from 27745832; 29795138; 28711143; 21784777; 28544690 to 28544690; 21784777; 27745832; 29795138; 28711143
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94
C1R
Louise Daugherty commented on gene: C1R: 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.
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94
C1R
Louise Daugherty commented on gene: C1R: 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.
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94
C1R
Kimberly Gilmour reviewed gene: C1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94
C1R
Tracy Briggs reviewed gene: C1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60
C1R
Louise Daugherty Source NHS GMS was added to C1R.
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59
C1R
Louise Daugherty Source North West GLH was added to C1R.
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58
C1R
Louise Daugherty Source London North GLH was added to C1R.
02 Jul 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty commented on gene: C1R
20 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty marked gene: C1R as ready
20 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty classified C1R as Green List (high evidence)
20 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty classified C1R as Green List (high evidence)
20 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty edited their review of gene: C1R
19 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Sophie Hambleton reviewed gene: C1R
19 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Sophie Hambleton reviewed gene: C1R
15 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty commented on gene: C1R
15 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty commented on gene: C1R
15 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty classified C1R as Amber List (moderate evidence)
15 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty classified C1R as Green List (high evidence)
15 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty commented on gene: C1R
15 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty commented on gene: C1R
15 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty commented on gene: C1R
20 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty commented on C1R
17 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty commented on C1R
17 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty commented on C1R
17 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty reviewed C1R
17 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty Added gene to panel
13 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C1R
Louise Daugherty Added gene to panel