Hereditary haemorrhagic telangiectasia

Gene: SOX18

Red List (low evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 3 variants reported. Neither phenotype is relevant to this panel according to expert reviewer Claire Shovlin
Created: 12 Dec 2016, 4:47 p.m.

Claire Shovlin (Imperial College London)

Red List (low evidence)

Pathogenic variants in SOX18 cause hypotrichosis-lymphedema-telangiectasia syndrome. The only overlap with HHT is in the term "telangiectasia" which is simply a descriptive term for small dilated blood (or lymphatic) vessels.
Created: 13 Nov 2016, 10:22 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • 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
Panels with this gene

History Filter Activity

12 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 (12th December 2016)

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Dec 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

12 Dec 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

30 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SOX18 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Radboud University Medical Center, Nijmegen

30 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SOX18 was created by ellenmcdonagh