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  3. SOX18
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Fetal anomalies

Gene: SOX18

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

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 4:32 p.m. | Last Modified: 1 Feb 2021, 4:32 p.m.
Panel Version: 1.537
Created: 1 Feb 2021, 4:32 p.m.
Last Modified: 1 Feb 2021, 4:32 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Primary lymphoedema
Sources: Literature, Expert list
Created: 28 Jan 2021, 2:51 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome

Created: 28 Jan 2021, 2:51 p.m.

Panel version: 1.187

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073
  • Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823
  • Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914
OMIM
601618
Clinvar variants
Variants in SOX18
Penetrance
None
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: SOX18.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to SOX18. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SOX18 were changed from Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073; Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823; Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: sox18 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: SOX18.

28 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: SOX18 was added gene: SOX18 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome Review for gene: SOX18 was set to GREEN