Thoracic aortic aneurysm and dissection

Gene: SLC2A10

Green List (high evidence)

SLC2A10 (solute carrier family 2 member 10)
EnsemblGeneIds (GRCh38): ENSG00000197496
EnsemblGeneIds (GRCh37): ENSG00000197496
OMIM: 606145, Gene2Phenotype
SLC2A10 is in 9 panels

9 reviews

James Eden (Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arterial tortuosity syndrome 208050

Publications

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton FTAAD panel. Only VUS reported so far.
Created: 18 Sep 2019, 2:51 p.m. | Last Modified: 18 Sep 2019, 2:51 p.m.
Panel Version: 0.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM: 208050 Arterial tortuosity syndrome

Variants in this GENE are reported as part of current diagnostic practice

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35
Comment on list classification: Promoted from amber to green based on evidence provided by expert reviews.
Created: 12 Sep 2019, 1:44 p.m. | Last Modified: 12 Sep 2019, 1:44 p.m.
Panel Version: 0.27

Alison Callaway (Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust)

Green List (high evidence)

On Wessex aortopathy panel; to date, no pathogenic or likely pathogenic variants have been detected in cases referred for this panel.
Associated with arterial tortuosity syndrome (OMIM #208050), which overlaps with TAAD
Created: 29 Aug 2019, 2:06 p.m. | Last Modified: 29 Aug 2019, 2:06 p.m.
Panel Version: 0.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Rebecca Whittington (South West GLH)

Green List (high evidence)

208050 Arterial tortuosity syndrome - autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries
Created: 25 Mar 2019, 4:30 p.m.
Callewaert et al 2008 Hum Mutat 29:150 PMID:17935213 describe bialleleic SLC2A10 variants in 16 affected individuals from 12 families; missense, truncating and large deletion; 5 mutations are recurrent. Heterozygous carriers have normal vasculature (abstract only); Wooderchak-Donahue et al 2015 Am J Med Genet A 167A:1747 PMID:25944730 also identify heterozygous SLC2A10 variants in Marfan cohort patients with arterial aneurysm/dissection but both variants are VUS.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Nick Camm (NHS)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

Comment on publications: GLUT10 (PMID:16550171) is a synonym for SLC2A10.
Created: 29 Jun 2017, 12:21 p.m.

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.
On the Inherited Cardiac Condition Genes panel reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category.
Created: 19 Feb 2016, 10:18 a.m.

Phenotypes
Familial aortic anuerysm

Publications

  • 22001912
  • doi:10.​1007/​s12265-016-9673-5

Matina Prapa (Genomics England Curator)

Green List (high evidence)

Arterial tortuosity syndrome characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries owing to disruption of elastic fibers in the medial layer of the arterial wall.
Created: 14 Feb 2016, 2:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
208050- Arterial tortuosity syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • Arterial tortuosity syndrome, 208050
  • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
OMIM
606145
Clinvar variants
Variants in SLC2A10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: slc2a10 has been classified as Green List (High Evidence).

11 Sep 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SLC2A10 were set to 22001912; 16550171

11 Sep 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SLC2A10 were set to

18 Apr 2019, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: SLC2A10 was added gene: SLC2A10 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, 208050; Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders