Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Date	Panel	Item	Activity
Filter activities 3 actions
15 Apr 2020	COVID-19 research v0.103	STXBP2	Ivone Leong reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32086639, 32048120; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
15 Apr 2020	COVID-19 research v0.102	STXBP2	Ivone Leong Source IUIS Classification December 2030 was added to STXBP2. Mode of inheritance for gene STXBP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Apr 2020	COVID-19 research v0.36	STXBP2	Ellen McDonagh gene: STXBP2 was added gene: STXBP2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STXBP2 were set to 19804848; 19884660; 20301617; 20798128 Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial 5, 613101; Diseases of Immune Dysregulation; Fever, HSM, cHLH, cytopenias, enteropathy; FHL5; Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)