Primary lymphoedemaGene: TIE1
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. Based on the expert review this gene has been given an Amber rating until more evidence is available.
Created: 2 Aug 2021, 12:17 p.m. | Last Modified: 2 Aug 2021, 12:17 p.m.
Panel Version: 2.15
Three families reported, supportive animal model, though variants are missense and present at a low frequency in gnomad, hence Amber rating suggested.
Created: 8 Jul 2021, 8:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lymphatic malformation 11, MIM# 619401
Tag watchlist tag was added to gene: TIE1.
Gene: tie1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TIE1 were changed from Lymphatic malformation 11, MIM# 619401 to Lymphatic malformation 11, OMIM:619401
gene: TIE1 was added gene: TIE1 was added to Primary lymphoedema. 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