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  3. SLC2A1
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Dystonia - isolated/combined

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 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are associated with a number of neurological phenotypes, including dystonia.
Created: 29 Apr 2021, 8:35 a.m. | Last Modified: 29 Apr 2021, 8:35 a.m.
Panel Version: 0.54

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 9, MIM# 601042; MONDO:0010983

Publications

Created: 29 Apr 2021, 8:35 a.m.
Last Modified: 29 Apr 2021, 8:35 a.m.
Panel version: 0.54

History Filter Activity

29 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc2a1 has been classified as Green List (High Evidence).

29 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC2A1 were changed from GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 2; Dystonia; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; dystonia 9 to Dystonia 9, MIM# 601042; MONDO:0010983

29 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC2A1 was added gene: SLC2A1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 2; Dystonia; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; dystonia 9