Aortopathy_Connective Tissue Disorders
Gene: SLC2A10EnsemblGeneIds (GRCh38): ENSG00000197496
EnsemblGeneIds (GRCh37): ENSG00000197496
OMIM: 606145, Gene2Phenotype
SLC2A10 is in 15 panels
3 reviews
Sangavi Sivagnanasundram (Melbourne Health)
Classified as Definitive by ClinGen Cardiovascular GCEP on 07/11/2024 - https://search.clinicalgenome.org/CCID:008487
LoF is the mechanism of disease.Created: 17 Dec 2024, 1:08 a.m. | Last Modified: 17 Dec 2024, 1:08 a.m.
Panel Version: 1.86
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arterial tortuosity syndrome MONDO:0008818
Publications
- https://search.clinicalgenome.org/CCID:008487
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Phenotypes
Arterial tortuosity syndrome MIM#208050
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
- Victorian Clinical Genetics Services
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC2A10 were changed from Arterial tortuosity syndrome MIM#606145 to Arterial tortuosity syndrome MIM#208050
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc2a10 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome MIM#606145
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC2A10 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC2A10 was added gene: SLC2A10 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC2A10 was set to Unknown