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Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 MBL2 Sophie Hambleton reviewed gene: MBL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 MBL2 Louise Daugherty commented on gene: MBL2: 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 MBL2 Louise Daugherty commented on gene: MBL2: relevant to 5-10% of the population and that there are three specific missense variants described. Rated Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 MBL2 Louise Daugherty Tag curated-variant-list tag was added to gene: MBL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 MBL2 Louise Daugherty commented on gene: MBL2: Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MBL2 GRID_Gene_Symbol: MBL2 GRID_Transcript_ENS_Community submitted: ENST00000373968 GRID_Transcript_RefSeq: NM_000242.2 GRID_Transcript_ENS_used_on_Production: ENST00000373968
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 MBL2 Louise Daugherty edited their review of gene: MBL2: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.120 MBL2 Louise Daugherty commented on gene: MBL2: Original metadata downloaded from ESID Registry. ESID_Gene_original: MBL, PanelApp HGNC gene symbol check: MBL2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Mannose-binding lectin (MBL) / Mannose-binding lectin deficiency (MBL)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.93 MBL2 Louise Daugherty Source Inherited complement deficiency v0.11 was added to MBL2.
Source Expert Review Amber was added to MBL2.
Source ESID Registry 20171117 was added to MBL2.
Source GRID V2.0 was added to MBL2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.84 MBL2 Louise Daugherty Publications for gene: MBL2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.83 MBL2 Louise Daugherty Phenotypes for gene: MBL2 were changed from to Mannose-Binding Protein Deficiency, 614372; Chronic infections, due to MBL deficiency; Mannose-binding lectin deficiency (MBL)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.82 MBL2 Louise Daugherty Mode of inheritance for gene: MBL2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.81 MBL2 Louise Daugherty reviewed gene: MBL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 MBL2 Louise Daugherty Source London North GLH was added to MBL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 MBL2 Louise Daugherty Source NHS GMS was added to MBL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 MBL2 Louise Daugherty gene: MBL2 was added
gene: MBL2 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: MBL2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 GUCY2C Louise Daugherty MBL2 was changed to GUCY2C
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 MBL2 Louise Daugherty Source North West GLH was added to MBL2.
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty marked gene: MBL2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty commented on gene: MBL2
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty commented on gene: MBL2
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Sophie Hambleton reviewed gene: MBL2
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Sarah Leigh classified MBL2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty commented on MBL2
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty commented on MBL2
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty commented on MBL2
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty reviewed MBL2
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty Added gene to panel