Cerebral vascular malformations

Gene: SLC2A10

Green List (high evidence)

SLC2A10 (solute carrier family 2 member 10)
EnsemblGeneIds (GRCh38): ENSG00000197496
EnsemblGeneIds (GRCh37): ENSG00000197496
OMIM: 606145, Gene2Phenotype
SLC2A10 is in 9 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 rating
Created: 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)

I don't know

Was originally in expert list for Moyamoya disease.
Created: 14 Dec 2016, 4:14 p.m.

Alice Gardham (Genomics England)

I don't know

Definite association with arterial tortuosity but unsure of intracerebral involvement
Created: 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
  • Expert Review Green
  • Expert list
Phenotypes
  • Arterial tortuosity syndrome
  • Moyamoya disease
  • 208050
OMIM
606145
Clinvar variants
Variants in SLC2A10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SLC2A10.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC2A10.

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Dec 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC2A10 were set to Arterial tortuosity syndrome; Moyamoya disease;208050

14 Dec 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC2A10 were set to 16550171

14 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC2A10 was created by ellenmcdonagh

2 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC2A10 was added to Cerebrovascular disorderspanel. Sources: Expert list