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Primary immunodeficiency or monogenic inflammatory bowel disease v2.572 CFHR5 Arina Puzriakova commented on gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease v2.572 CFHR4 Arina Puzriakova commented on gene: CFHR4
Primary immunodeficiency or monogenic inflammatory bowel disease v2.572 CFHR3 Arina Puzriakova commented on gene: CFHR3
Primary immunodeficiency or monogenic inflammatory bowel disease v2.572 CFHR1 Arina Puzriakova commented on gene: CFHR1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.571 CFHR5 Arina Puzriakova Source Expert Review Red was added to CFHR5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.571 CFHR4 Arina Puzriakova Source Expert Review Red was added to CFHR4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.571 CFHR3 Arina Puzriakova Source Expert Review Red was added to CFHR3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.571 CFHR1 Arina Puzriakova Source Expert Review Red was added to CFHR1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.555 CFHR5 Dmitrijs Rots reviewed gene: CFHR5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.555 CFHR4 Dmitrijs Rots reviewed gene: CFHR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.555 CFHR1 Dmitrijs Rots reviewed gene: CFHR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.555 CFHR3 Dmitrijs Rots reviewed gene: CFHR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CFHR5 Louise Daugherty Source IUIS Classification December 2019 was added to CFHR5.
Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR5
Publications for gene CFHR5 were updated from 20800271; 22503529; 28673452 to 32048120; 28673452; 20800271; 22503529; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CFHR4 Louise Daugherty Source IUIS Classification December 2019 was added to CFHR4.
Mode of inheritance for gene CFHR4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR4
Publications for gene CFHR4 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CFHR3 Louise Daugherty Source IUIS Classification December 2019 was added to CFHR3.
Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR3
Publications for gene CFHR3 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CFHR2 Louise Daugherty Source IUIS Classification December 2019 was added to CFHR2.
Mode of inheritance for gene CFHR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR2
Publications for gene CFHR2 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CFHR1 Louise Daugherty Source IUIS Classification December 2019 was added to CFHR1.
Added phenotypes Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR1
Publications for gene CFHR1 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 CFHR5 Louise Daugherty commented on gene: CFHR5: Glomerulonephritis with C3 deposits (green re association - ?phenotype)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 CFHR5 Louise Daugherty commented on gene: CFHR5: 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 only enough evidence to rate this gene Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 CFHR5 Louise Daugherty commented on gene: CFHR5: 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 only enough evidence to rate this gene Amber
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 CFHR5 Kimberly Gilmour reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 CFHR5 Tracy Briggs reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFH Louise Daugherty commented on gene: CFH: 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 CFH Louise Daugherty commented on gene: CFH: 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 CFH Kimberly Gilmour reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFH Tracy Briggs reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 CFHR5 Louise Daugherty ERCC3 was changed to CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 CFHR5 Louise Daugherty Source North West GLH was added to CFHR5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 CFHR5 Louise Daugherty Source London North GLH was added to CFHR5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 CFHR5 Louise Daugherty Source NHS GMS was added to CFHR5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CFH Louise Daugherty Source NHS GMS was added to CFH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CFH Louise Daugherty Source North West GLH was added to CFH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CFH Louise Daugherty Source London North GLH was added to CFH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.36 CFHR5 Louise Daugherty Mode of inheritance for gene: CFHR5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Louise Daugherty commented on gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Louise Daugherty commented on gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR4 Louise Daugherty commented on gene: CFHR4
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR3 Louise Daugherty commented on gene: CFHR3
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Louise Daugherty commented on gene: CFHR1
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Louise Daugherty commented on gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR4 Louise Daugherty commented on gene: CFHR4
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR3 Louise Daugherty commented on gene: CFHR3
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR2 Louise Daugherty commented on gene: CFHR2
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Louise Daugherty commented on gene: CFHR1
Primary immunodeficiency or monogenic inflammatory bowel disease CFH Louise Daugherty commented on gene: CFH
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Sophie Hambleton commented on gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Sophie Hambleton reviewed gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR4 Sophie Hambleton reviewed gene: CFHR4
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR3 Sophie Hambleton reviewed gene: CFHR3
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Sophie Hambleton reviewed gene: CFHR1
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Sophie Hambleton reviewed gene: CFHR1
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Louise Daugherty marked gene: CFHR5 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR4 Louise Daugherty marked gene: CFHR4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR3 Louise Daugherty marked gene: CFHR3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Louise Daugherty marked gene: CFHR1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFH Louise Daugherty edited their review of gene: CFH
Primary immunodeficiency or monogenic inflammatory bowel disease CFH Louise Daugherty marked gene: CFH as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR2 Louise Daugherty marked gene: CFHR2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR2 Louise Daugherty commented on gene: CFHR2
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR2 Sophie Hambleton reviewed gene: CFHR2
Primary immunodeficiency or monogenic inflammatory bowel disease CFH Sophie Hambleton reviewed gene: CFH
Primary immunodeficiency or monogenic inflammatory bowel disease CFH Louise Daugherty classified CFH as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CFH Louise Daugherty commented on gene: CFH
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Louise Daugherty commented on gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR4 Louise Daugherty commented on gene: CFHR4
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR3 Louise Daugherty commented on gene: CFHR3
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Louise Daugherty commented on gene: CFHR1
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Louise Daugherty commented on gene: CFHR1
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR3 Louise Daugherty commented on gene: CFHR3
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR4 Louise Daugherty commented on gene: CFHR4
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Louise Daugherty commented on gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Louise Daugherty commented on gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR2 Louise Daugherty classified CFHR2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR2 Louise Daugherty commented on CFHR2
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Louise Daugherty commented on CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR4 Louise Daugherty commented on CFHR4
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR3 Louise Daugherty commented on CFHR3
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR2 Louise Daugherty commented on CFHR2
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Louise Daugherty commented on CFHR1
Primary immunodeficiency or monogenic inflammatory bowel disease CFH Louise Daugherty commented on CFH
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR2 Louise Daugherty commented on CFHR2
Primary immunodeficiency or monogenic inflammatory bowel disease CFH Louise Daugherty commented on CFH
Primary immunodeficiency or monogenic inflammatory bowel disease CFH Louise Daugherty commented on CFH
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Louise Daugherty reviewed CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR4 Louise Daugherty reviewed CFHR4
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR3 Louise Daugherty reviewed CFHR3
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR2 Louise Daugherty reviewed CFHR2
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Louise Daugherty reviewed CFHR1
Primary immunodeficiency or monogenic inflammatory bowel disease CFH Louise Daugherty reviewed CFH
Primary immunodeficiency or monogenic inflammatory bowel disease CFH Louise Daugherty Added gene to panel