Vascular skin disorders

Gene: SOX18

Green List (high evidence)

SOX18 (SRY-box 18)
EnsemblGeneIds (GRCh38): ENSG00000203883
EnsemblGeneIds (GRCh37): ENSG00000203883
OMIM: 601618, Gene2Phenotype
SOX18 is in 4 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)


Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: SOX18; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 12:05 p.m.

Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Hypotrichosis-lymphedema-telangiectasia syndrome
Clinvar variants
Variants in SOX18
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to SOX18.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SOX18 was added gene: SOX18 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome