Activity

Filter

Cancel
Date Panel Item Activity
32 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 MASP2 Arina Puzriakova reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.534 MASP2 Arina Puzriakova Phenotypes for gene: MASP2 were changed from Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies; MASP2 deficiency 613791 to MASP2 deficiency, OMIM:613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 MASP2 Louise Daugherty Source IUIS Classification December 2019 was added to MASP2.
Added phenotypes Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies for gene: MASP2
Publications for gene MASP2 were updated from 24658431 to 32048120; 24658431; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 MASP2 Louise Daugherty changed review comment from: Chronic infections due to MBL deficiency: 5% Europeans, 10% sub-saharan Africans, mostly unaffected. Increased risk of infections - is it useful clinically or if undergoing immunosuppression? Is it tested for clinically at present?; to: MASP2 deficiency: 4% caucasians, up to 18% of African populations - mostly asymptomatic. Is this a risk factor - is it useful in clinical practice? I don't know if this is a recurrent variant - may be too common?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 MASP2 Louise Daugherty commented on gene: MASP2: Chronic infections due to MBL deficiency: 5% Europeans, 10% sub-saharan Africans, mostly unaffected. Increased risk of infections - is it useful clinically or if undergoing immunosuppression? Is it tested for clinically at present?
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 MASP2 Louise Daugherty commented on gene: MASP2: 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 Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 MASP2 Louise Daugherty commented on gene: MASP2: 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 Red
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 MASP2 Louise Daugherty commented on gene: MASP2: Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.109 MASP2 Louise Daugherty Deleted their review
Primary immunodeficiency or monogenic inflammatory bowel disease v1.81 MASP2 Louise Daugherty reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.81 MASP2 Louise Daugherty Source GRID V2.0 was added to MASP2.
Source Expert Review Red was added to MASP2.
Source Victorian Clinical Genetics Services was added to MASP2.
Source ESID Registry 20171117 was added to MASP2.
Source IUIS Classification February 2018 was added to MASP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.80 MASP2 Louise Daugherty Publications for gene: MASP2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.79 MASP2 Louise Daugherty Phenotypes for gene: MASP2 were changed from to MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies
Primary immunodeficiency or monogenic inflammatory bowel disease v1.78 MASP2 Louise Daugherty Mode of inheritance for gene: MASP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 ERCC3 Louise Daugherty Phenotypes for gene: ERCC3 were changed from MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies to none
Primary immunodeficiency or monogenic inflammatory bowel disease v1.74 ERCC3 Louise Daugherty Phenotypes for gene: ERCC3 were changed from to MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 MASP2 Louise Daugherty Source London North GLH was added to MASP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 MASP2 Louise Daugherty Source NHS GMS was added to MASP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 MASP2 Louise Daugherty gene: MASP2 was added
gene: MASP2 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: MASP2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 DNASE1L3 Louise Daugherty MASP2 was changed to DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 MASP2 Louise Daugherty Source North West GLH was added to MASP2.
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Louise Daugherty marked gene: MASP2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Louise Daugherty classified MASP2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Louise Daugherty commented on gene: MASP2
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Sophie Hambleton reviewed gene: MASP2
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Sarah Leigh classified MASP2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Louise Daugherty commented on MASP2
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Louise Daugherty commented on MASP2
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Louise Daugherty commented on MASP2
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Louise Daugherty reviewed MASP2
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Louise Daugherty Added gene to panel