Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Congenital Disorders of Glycosylation v2.0 POFUT1 Gene migrated from ENSG00000101346 to ENSG00000101346 (gene set migration)
Congenital Disorders of Glycosylation v1.6 POFUT1 Zornitza Stark Phenotypes for gene: POFUT1 were changed from to Dowling-Degos disease 2 (MIM# 615327)
Congenital Disorders of Glycosylation v1.5 POFUT1 Zornitza Stark Publications for gene: POFUT1 were set to
Congenital Disorders of Glycosylation v0.112 POFUT1 Seb Lunke Marked gene: POFUT1 as ready
Congenital Disorders of Glycosylation v0.112 POFUT1 Seb Lunke Gene: pofut1 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.112 POFUT1 Seb Lunke Mode of inheritance for gene: POFUT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital Disorders of Glycosylation v0.111 POFUT1 Seb Lunke Classified gene: POFUT1 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.111 POFUT1 Seb Lunke Gene: pofut1 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.96 POFUT1 Ain Roesley reviewed gene: POFUT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23684010, 29452367, 25157627; Phenotypes: Dowling-Degos disease 2 (MIM# 615327); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital Disorders of Glycosylation v0.0 POFUT1 Zornitza Stark gene: POFUT1 was added
gene: POFUT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POFUT1 was set to Unknown