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  2. Lymphoedema_syndromic
  3. SOX18
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Lymphoedema_syndromic

Gene: SOX18

Green List (high evidence)
SOX18 (SRY-box 18)
EnsemblGeneIds (GRCh38): ENSG00000203883
EnsemblGeneIds (GRCh37): ENSG00000203883
OMIM: 601618, Gene2Phenotype
SOX18 is in 9 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • London South GLH
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome, 607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
OMIM
601618
Clinvar variants
Variants in SOX18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2020, Gel status: 3

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

Sue White (Victorian Clinical Genetics Services)

gene: SOX18 was added gene: SOX18 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SOX18 were set to 26148450; 12740761 Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940