Hereditary haemorrhagic telangiectasiaGene: SOX18
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 3 variants reported. Neither phenotype is relevant to this panel according to expert reviewer Claire Shovlin
Created: 12 Dec 2016, 4:47 p.m.
Pathogenic variants in SOX18 cause hypotrichosis-lymphedema-telangiectasia syndrome. The only overlap with HHT is in the term "telangiectasia" which is simply a descriptive term for small dilated blood (or lymphatic) vessels.
Created: 13 Nov 2016, 10:22 p.m.
Promoted to V1 (12th December 2016)
This gene has been classified as Red List (Low 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
SOX18 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Radboud University Medical Center, Nijmegen
SOX18 was created by ellenmcdonagh