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Meiges disease

Gene: SOX18

Green List (high evidence)
SOX18 (SRY-box 18)
EnsemblGeneIds (GRCh38): ENSG00000203883
EnsemblGeneIds (GRCh37): ENSG00000203883
OMIM: 601618, Gene2Phenotype
SOX18 is in 5 panels

3 reviews

Pia Ostergaard (St George's)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
hypotrichosis-lymphedema-telangiectasia

Publications

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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.
Created: 8 Aug 2016, 10:25 a.m.

Panel version: 1.13

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.
Created: 29 Jul 2016, 10:17 p.m.

Panel version: 0.39

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

8 Aug 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).

8 Aug 2016, Gel status: 1

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

8 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SOX18 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

8 Aug 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SOX18 were set to 12740761; 26148450; 26631803

29 Jul 2016, Gel status: 1

panel promoted to version 1

Richard Scott (Genomics England Curator)

Ready for version 1

29 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SOX18 was added to Meiges diseasepanel. Sources: Radboud University Medical Center, Nijmegen