Pigmentary 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

1 review

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, 11:31 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome
OMIM
601618
Clinvar variants
Variants in SOX18
Penetrance
None
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 Pigmentary 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