Activity

Filter

Cancel
Date Panel Item Activity
4 actions
COVID-19 research v1.117 F12 Arina Puzriakova Phenotypes for gene: F12 were changed from hereditary angioedema; Angioedema, Hereditary, Type III to Angioedema, hereditary, 3, OMIM:610618
COVID-19 research v0.40 TNFSF12 Ellen McDonagh Source Expert Review Green was added to TNFSF12.
Added phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies; Pneumonia, bacterial infections, warts, thrombocytopenia. neutropenia; Pneumonia, bacterial infections, warts, thrombocytopenia for gene: TNFSF12
Rating Changed from Red List (low evidence) to Green List (high evidence)
COVID-19 research v0.36 F12 Ellen McDonagh gene: F12 was added
gene: F12 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH
Mode of inheritance for gene: F12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: F12 were set to 17186468; 16638441; 19178938
Phenotypes for gene: F12 were set to hereditary angioedema; Angioedema, Hereditary, Type III
Mode of pathogenicity for gene: F12 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
COVID-19 research v0.36 TNFSF12 Ellen McDonagh gene: TNFSF12 was added
gene: TNFSF12 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018
Mode of inheritance for gene: TNFSF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNFSF12 were set to 23493554; 32086639; 32048120
Phenotypes for gene: TNFSF12 were set to Immunodeficiency, common variable with lack of anti-pneumococcal antibody; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies; Pneumonia, bacterial infections, warts, thrombocytopenia. neutropenia; Pneumonia, bacterial infections, warts, thrombocytopenia