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| Thoracic aortic aneurysm or dissection v1.98 | SLC2A10 | Ellen McDonagh edited their review of gene: SLC2A10: Added comment: Biallelic mode of inheritance is correct.; Changed publications: 22001912, doi:10.1007/s12265-016-9673-5; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.92 | SLC2A10 | Alison Callaway reviewed gene: SLC2A10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.90 | SLC2A10 | Rebecca Whittington commented on gene: SLC2A10: 208050 Arterial tortuosity syndrome - autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.89 | SLC2A10 | Rebecca Whittington commented on gene: SLC2A10: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.88 | SLC2A10 | Rebecca Whittington reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.87 | SLC2A10 |
Ellen McDonagh Source South West GLH was added to SLC2A10. Mode of inheritance for gene SLC2A10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal |
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| Thoracic aortic aneurysm or dissection v1.86 | SLC2A10 | Ellen McDonagh edited their review of gene: SLC2A10: Added comment: 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.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection v1.85 | SLC2A10 |
Ellen McDonagh Source London South GLH was added to SLC2A10. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection | SLC2A10 | Rebecca Foulger commented on SLC2A10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||