Primary lymphoedema

Gene: SOX18

Green List (high evidence)

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

4 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Pia Ostergaard (St George's)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
hypotrichosis-lymphedema-telangiectasia

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. See reviewer comments for variants reported
Created: 2 Nov 2016, 11:02 a.m.
Two novel variants reported recently; c.481C>T:p.Gln161* in a 13 year old patient with Hypotrichosis-Lymphedema-Telangiectasia Syndrome and aortic dilatation as an additional phenotype (PMID: 26148450) and c.492_505dup in the child of a non-consanguineous Jordanian parents (26631803) , thus bringing the total number of variants reported to 5. Approved by Richard Scott
Created: 8 Aug 2016, 12:24 p.m.

Richard Scott (Genomics England Curator)

Comment on list classification: Only two families with AR inheritance reported and one with AD inheritance. Await further data before report diagnostically
Created: 29 Jul 2016, 10:17 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome, 607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
OMIM
601618
Clinvar variants
Variants in SOX18
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to SOX18. Rating Changed from Green List (high evidence) to Green List (high evidence)

2 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940

2 Nov 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SOX18 were set to 26148450; 12740761

30 Sep 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SOX18 was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SOX18 was created by sleigh