Meiges disease
Gene: SOX18
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
hypotrichosis-lymphedema-telangiectasia
Publications
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 ScottCreated: 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 diagnosticallyCreated: 29 Jul 2016, 10:17 p.m.
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
Mode of inheritance for SOX18 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for SOX18 were set to 12740761; 26148450; 26631803
Ready for version 1
This gene has been classified as Red List (Low Evidence).
SOX18 was added to Meiges diseasepanel. Sources: Radboud University Medical Center, Nijmegen