Hereditary ataxia

Gene: SLC2A1

Green List (high evidence)

SLC2A1 (solute carrier family 2 member 1)
EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 23 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Ataxia reported as a phenotypic feature in GLUT1 deficiency syndrome 1, infantile onset, severe 606777 which can be either mono or biallelic
Created: 12 Jan 2017, 3:45 p.m.

Damian Smedley (Genomics England Curator)

Comment on list classification: Evidence from OMIM and expert reviewer
Created: 4 Feb 2016, 5:13 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Loads of evidence. Positives in our cohort. Mode of inheritance/pathogenicity: AD LoF/Haploinsufficiency (rarely AR)
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SLC2A1 were changed from to Dystonia 9, 601042; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885

12 Jan 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Jan 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC2A1 was added to Hereditary ataxiapanel. Sources: UKGTN