Cerebral vascular malformations
Gene: SLC2A10

SLC2A10 (solute carrier family 2 member 10)
EnsemblGeneIds (GRCh38): ENSG00000197496
EnsemblGeneIds (GRCh37): ENSG00000197496
OMIM: 606145, Gene2Phenotype
SLC2A10 is in 15 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene-disease association with cerebral vascular anomalies identified on brain MRIs of affected individuals.
Created: 18 Nov 2024, 3:14 a.m. | Last Modified: 18 Nov 2024, 3:14 a.m.

Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
arterial tortuosity syndrome MONDO:0008818

Publications

Created: 18 Nov 2024, 3:14 a.m.
Last Modified: 18 Nov 2024, 3:14 a.m.
Panel version: 0.39

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Genomics England PanelApp
Expert Review Green

Phenotypes

208050
Moyamoya disease
Arterial tortuosity syndrome

OMIM

606145

Clinvar variants

Variants in SLC2A10

Penetrance

None

Publications

16550171

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC2A10 was added gene: SLC2A10 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A10 were set to 16550171 Phenotypes for gene: SLC2A10 were set to 208050; Moyamoya disease; Arterial tortuosity syndrome

Cerebral vascular malformations Gene: SLC2A10