Primary lymphoedemaGene: AQP1
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD, but not relevant to this panel. One report of occasional edema of the lower legs (PMID 11463012)
Created: 1 Nov 2016, 4:55 p.m.
Comment on phenotypes: Phenotypes not relevant to this panel
Created: 1 Nov 2016, 4:52 p.m.
Not in the lymphoedema clinic
Created: 1 Nov 2016, 3:51 p.m.
Mode of inheritance
A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for AQP1 were set to Aquaporin-1 deficiency; [Blood group, Colton] 110450
AQP1 was added to Lymphatic Disorderspanel. Sources: Literature
AQP1 was created by sleigh