Cerebral vascular malformations
Gene: SLC2A10
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
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.
Was originally in expert list for Moyamoya disease.Created: 14 Dec 2016, 4:14 p.m.
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
Source Yorkshire and North East GLH was added to SLC2A10.
Source NHS GMS was added to SLC2A10.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC2A10 were set to Arterial tortuosity syndrome; Moyamoya disease;208050
Publications for SLC2A10 were set to 16550171
This gene has been classified as Amber List (Moderate Evidence).
SLC2A10 was created by ellenmcdonagh
SLC2A10 was added to Cerebrovascular disorderspanel. Sources: Expert list