Cerebral vascular malformations
Gene: SLC2A10EnsemblGeneIds (GRCh38): ENSG00000197496
EnsemblGeneIds (GRCh37): ENSG00000197496
OMIM: 606145, Gene2Phenotype
SLC2A10 is in 7 panels
5 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Arterial tortuosity syndrome;Moyamoya disease;208050Created: 25 Mar 2021, 2:26 p.m. | Last Modified: 25 Mar 2021, 2:26 p.m.
Panel Version: 2.20
Louise Daugherty (Genomics England Curator)
Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green ratingCreated: 29 Nov 2019, 7 p.m. | Last Modified: 29 Nov 2019, 7 p.m.
Panel Version: 1.67
Ellen Thomas (Genomics England Curator)
Comment on list classification: Arterial tortuosity has been reported in cerebral arteries (in general; not aware of specific localisation with this gene), but no evidence that they spare the cerebral vasculature so include the gene.Created: 19 Dec 2016, 2:30 p.m.
Ellen McDonagh (Genomics England Curator)
Was originally in expert list for Moyamoya disease.Created: 14 Dec 2016, 4:14 p.m.
Alice Gardham (Genomics England)
Definite association with arterial tortuosity but unsure of intracerebral involvementCreated: 14 Dec 2016, 3:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arterial tortuosity syndrome 208050
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Arterial tortuosity syndrome, OMIM:208050
- OMIM
- 606145
- Clinvar variants
- Variants in SLC2A10
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SLC2A10 were changed from Arterial tortuosity syndrome; Moyamoya disease; 208050 to Arterial tortuosity syndrome, OMIM:208050
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to SLC2A10.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC2A10.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC2A10 were set to Arterial tortuosity syndrome; Moyamoya disease;208050
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC2A10 were set to 16550171
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SLC2A10 was added to Cerebrovascular disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)SLC2A10 was created by ellenmcdonagh