Primary lymphoedema

Gene: SOX18

I don't know

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.

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
hypotrichosis-lymphedema-telangiectasia

Publications

• [PMID: 12740761]

Green List (high evidence)

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.