Cutis Laxa
Gene: SLC2A10
SLC2A10 (solute carrier family 2 member 10)
EnsemblGeneIds (GRCh38): ENSG00000197496
EnsemblGeneIds (GRCh37): ENSG00000197496
OMIM: 606145, Gene2Phenotype
SLC2A10 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000197496
EnsemblGeneIds (GRCh37): ENSG00000197496
OMIM: 606145, Gene2Phenotype
SLC2A10 is in 15 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
"Limited evidence" by ClinGen Aortopathy Working Group:
"The opposite [to COL3A1] holds true for SLC2A10, where there is a high prevalence of aortic enlargement, but the risk for dissection is low based on available data, leading to categorization of SLC2A10 in the additional category B of genes predictive of thoracic aortic enlargement without evidence of progression to aortic dissection."
Many families reported with variants in this gene associated with arterial tortuosity syndrome and Green on PanelApp UK.Created: 25 Jun 2020, 3:18 a.m. | Last Modified: 25 Jun 2020, 3:18 a.m.
Panel Version: 0.26
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arterial tortuosity syndrome MIM#606145
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- GeneReviews
- Phenotypes
-
- Arterial tortuosity syndrome MIM#208050
- OMIM
- 606145
- Clinvar variants
- Variants in SLC2A10
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cutis Laxa
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Aortopathy_Connective Tissue Disorders
- Cerebral vascular malformations
- Vitamin metabolism disorders
History Filter Activity
15 Oct 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc2a10 has been classified as Green List (High Evidence).
15 Oct 2022, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC2A10 were set to
10 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC2A10 was added gene: SLC2A10 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome MIM#208050