17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94
C8A
Louise Daugherty commented on gene: C8A: 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
C8A
Louise Daugherty commented on gene: C8A: 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
C8A
Kimberly Gilmour reviewed gene: C8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94
C8A
Tracy Briggs reviewed gene: C8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60
C8A
Louise Daugherty Source NHS GMS was added to C8A.
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59
C8A
Louise Daugherty Source North West GLH was added to C8A.
17 Sep 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58
C8A
Louise Daugherty Source London North GLH was added to C8A.
02 Jul 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C8A
Louise Daugherty commented on gene: C8A
20 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C8A
Louise Daugherty marked gene: C8A as ready
20 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C8A
Louise Daugherty classified C8A as Green List (high evidence)
20 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C8A
Louise Daugherty edited their review of gene: C8A
19 Jun 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C8A
Sophie Hambleton reviewed gene: C8A
20 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C8A
Louise Daugherty commented on C8A
17 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C8A
Louise Daugherty commented on C8A
17 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
LRRC8A
Louise Daugherty reviewed LRRC8A
17 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C8A
Louise Daugherty commented on C8A
17 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C8A
Louise Daugherty reviewed C8A
17 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C8A
Louise Daugherty Added gene to panel
13 Apr 2018
Primary immunodeficiency or monogenic inflammatory bowel disease
C8A
Louise Daugherty Added gene to panel