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  3. SOX17
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Pulmonary Arterial Hypertension

Gene: SOX17

Green List (high evidence)
SOX17 (SRY-box 17)
EnsemblGeneIds (GRCh38): ENSG00000164736
EnsemblGeneIds (GRCh37): ENSG00000164736
OMIM: 610928, Gene2Phenotype
SOX17 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen.
Created: 8 Aug 2023, 5:23 a.m. | Last Modified: 8 Aug 2023, 5:23 a.m.
Panel Version: 1.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Heritable pulmonary arterial hypertension, MONDO:0017148, SOX17-related

Created: 8 Aug 2023, 5:23 a.m.
Last Modified: 8 Aug 2023, 5:23 a.m.
Panel version: 1.19

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Rare variants in SOX17 identified in PAH cases, including four nonsense variants predicted to lead to loss of the beta-catenin binding region, and six missense variants predicted to disrupt interactions with Oct4 and beta-catenin.
Created: 28 Jan 2020, 12:09 a.m. | Last Modified: 28 Jan 2020, 12:09 a.m.
Panel Version: 0.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension

Publications

Created: 28 Jan 2020, 12:09 a.m.
Last Modified: 28 Jan 2020, 12:09 a.m.
Panel version: 0.24

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Heritable pulmonary arterial hypertension, MONDO:0017148, SOX17-related
OMIM
610928
Clinvar variants
Variants in SOX17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension to Heritable pulmonary arterial hypertension, MONDO:0017148, SOX17-related

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox17 has been classified as Green List (High Evidence).

27 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3 MIM#613674 to Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension

27 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOX17 were set to

28 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sox17 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SOX17 was added gene: SOX17 was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3 MIM#613674