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Newborns main panel

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 24 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD and AR forms of GLUT1 deficiency syndrome-1 are included.
Created: 26 Sep 2024, 4:13 p.m. | Last Modified: 18 Nov 2025, 3:35 p.m.
Panel Version: 0.480
Created: 26 Sep 2024, 4:13 p.m.
Last Modified: 18 Nov 2025, 3:35 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:11005
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
is this a semidominant for which we are only interested in AR? -> KS: Added another row for AD
Created: 17 May 2023, 1:48 p.m. | Last Modified: 17 May 2023, 1:48 p.m.
Panel Version: 0.83
Created: 17 May 2023, 1:48 p.m.
Last Modified: 17 May 2023, 1:48 p.m.
Panel version: 0.137

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: SLC2A1.

6 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC2A1 were changed from GLUT1 deficiency syndrome-1 to GLUT1 deficiency syndrome-1, Autosomal Recessive

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes GLUT1 deficiency syndrome-1 for gene: SLC2A1

5 Jul 2023, Gel status: 3

Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene SLC2A1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes GLUT1 deficiency syndrome-1 for gene: SLC2A1

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes GLUT1 deficiency syndrome-1 for gene: SLC2A1

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes GLUT1 deficiency syndrome-1 for gene: SLC2A1

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes GLUT1 deficiency syndrome-1 for gene: SLC2A1

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SLC2A1 was added gene: SLC2A1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal