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  2. Vascular Malformations_Germline
  3. SOX18
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Vascular Malformations_Germline

Gene: SOX18

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Both mono allelic and bi-allelic variants reported.
Sources: Expert list
Created: 2 Jul 2020, 5:50 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940

Publications

Created: 2 Jul 2020, 5:50 a.m.

Panel version: 0.107

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
OMIM
601618
Clinvar variants
Variants in SOX18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox18 has been classified as Green List (High Evidence).

2 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox18 has been classified as Green List (High Evidence).

2 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOX18 was added gene: SOX18 was added to Vascular Malformations_Germline. Sources: Expert list Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SOX18 were set to 12740761; 24697860; 2484451; 26148450 Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940 Review for gene: SOX18 was set to GREEN