Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Corneal Dystrophy v2.0 TGFBI Gene migrated from ENSG00000120708 to ENSG00000120708 (gene set migration)
Corneal Dystrophy v1.16 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Corneal Dystrophy v1.15 TGFBI Zornitza Stark edited their review of gene: TGFBI: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Corneal Dystrophy v1.15 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Corneal Dystrophy v1.14 TGFBI Zornitza Stark Publications for gene: TGFBI were set to 9054935
Corneal Dystrophy v1.13 TGFBI Zornitza Stark edited their review of gene: TGFBI: Added comment: Multiple biallelic cases reported with a more severe phenotype.; Changed publications: 9054935, 33772078; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Corneal Dystrophy v0.74 TGFBI Zornitza Stark Marked gene: TGFBI as ready
Corneal Dystrophy v0.74 TGFBI Zornitza Stark Gene: tgfbi has been classified as Green List (High Evidence).
Corneal Dystrophy v0.74 TGFBI Zornitza Stark Phenotypes for gene: TGFBI were changed from to Corneal dystrophy, multiple types, MONDO:0000764
Corneal Dystrophy v0.73 TGFBI Zornitza Stark Publications for gene: TGFBI were set to
Corneal Dystrophy v0.72 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.71 TGFBI Zornitza Stark reviewed gene: TGFBI: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054935; Phenotypes: Corneal dystrophy, multiple types, MONDO:0000764; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal Dystrophy v0.0 TGFBI Zornitza Stark gene: TGFBI was added
gene: TGFBI was added to Corneal Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGFBI was set to Unknown