Thoracic aortic aneurysm or dissection

Gene: SLC2A10

I don't know

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, which overlaps with TAAD

Created: 8 May 2019, 1:41 p.m.

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

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

Green List (high evidence)

Comment on publications: GLUT10 (PMID:16550171) is a synonym for SLC2A10.

Created: 29 Jun 2017, 12:21 p.m.

I don't know

Biallelic mode of inheritance is correct.

Created: 2 Oct 2019, 10:40 a.m. | Last Modified: 2 Oct 2019, 10:40 a.m.

Panel Version: 1.98

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.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Familial aortic anuerysm

Publications

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

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

• PMID: 16550171