Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Mendeliome v1.1818 TIE1 Ain Roesley Classified gene: TIE1 as Green List (high evidence)
Mendeliome v1.1818 TIE1 Ain Roesley Gene: tie1 has been classified as Green List (High Evidence).
Mendeliome v1.1818 TIE1 Ain Roesley Publications for gene: TIE1 were set to 32947856; 24764452
Mendeliome v1.1817 TIE1 Ain Roesley reviewed gene: TIE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38820174; Phenotypes: Lymphatic malformation 11, MIM# 619401; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.8203 TIE1 Zornitza Stark Marked gene: TIE1 as ready
Mendeliome v0.8203 TIE1 Zornitza Stark Gene: tie1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8203 TIE1 Zornitza Stark Classified gene: TIE1 as Amber List (moderate evidence)
Mendeliome v0.8203 TIE1 Zornitza Stark Gene: tie1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.8202 TIE1 Zornitza Stark gene: TIE1 was added
gene: TIE1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TIE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TIE1 were set to 32947856; 24764452
Phenotypes for gene: TIE1 were set to Lymphatic malformation 11, MIM# 619401
Review for gene: TIE1 was set to AMBER
Added comment: Three families reported, supportive animal model, though variants are missense and present at a low frequency in gnomad.
Sources: Literature