Primary lymphoedemaGene: SOX18
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. See reviewer comments for variants reported
Created: 2 Nov 2016, 11:02 a.m.
Two novel variants reported recently; c.481C>T:p.Gln161* in a 13 year old patient with Hypotrichosis-Lymphedema-Telangiectasia Syndrome and aortic dilatation as an additional phenotype (PMID: 26148450) and c.492_505dup in the child of a non-consanguineous Jordanian parents (26631803) , thus bringing the total number of variants reported to 5. Approved by Richard Scott
Created: 8 Aug 2016, 12:24 p.m.
Comment on list classification: Only two families with AR inheritance reported and one with AD inheritance. Await further data before report diagnostically
Created: 29 Jul 2016, 10:17 p.m.
Source London South GLH was added to SOX18. Rating Changed from Green List (high evidence) to Green List (high evidence)
A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
Publications for SOX18 were set to 26148450; 12740761
SOX18 was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
SOX18 was created by sleigh