Activity

Filter

Cancel
Date Panel Item Activity
16 actions
Mendeliome v1.956 CD2AP Bryony Thompson Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3, OMIM #607832 to focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917
Mendeliome v1.955 CD2AP Bryony Thompson Publications for gene: CD2AP were set to 30612599; 17713465; 10997929; 12764198; 15951437
Mendeliome v1.954 CD2AP Bryony Thompson Publications for gene: CD2AP were set to 30612599; 17713465
Mendeliome v1.953 CD2AP Bryony Thompson Mode of inheritance for gene: CD2AP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.952 CD2AP Bryony Thompson Classified gene: CD2AP as Green List (high evidence)
Mendeliome v1.952 CD2AP Bryony Thompson Added comment: Comment on list classification: Definitive gene-disease assessment by ClinGen Glomerulopathy GCEP - classified 13/12/2021
Mendeliome v1.952 CD2AP Bryony Thompson Gene: cd2ap has been classified as Green List (High Evidence).
Mendeliome v0.728 CD2AP Zornitza Stark Marked gene: CD2AP as ready
Mendeliome v0.728 CD2AP Zornitza Stark Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Mendeliome v0.728 CD2AP Zornitza Stark Phenotypes for gene: CD2AP were changed from to Glomerulosclerosis, focal segmental, 3, OMIM #607832
Mendeliome v0.727 CD2AP Zornitza Stark Publications for gene: CD2AP were set to
Mendeliome v0.726 CD2AP Zornitza Stark Mode of inheritance for gene: CD2AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.725 CD2AP Zornitza Stark Classified gene: CD2AP as Amber List (moderate evidence)
Mendeliome v0.725 CD2AP Zornitza Stark Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Mendeliome v0.724 CD2AP Zornitza Stark reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: None; Publications: 30612599, 17713465; Phenotypes: Glomerulosclerosis, focal segmental, 3, OMIM #607832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 CD2AP Zornitza Stark gene: CD2AP was added
gene: CD2AP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CD2AP was set to Unknown