Genes in panel

Hereditary ataxia - adult onset

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 25 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Haploinsufficiency is predominant pathogenic mechanism. Note rare cases of apparent AR inheritance of missense variants reported in the lit (see PMID in publications)
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dystonia 9, 601042, GLUT1 deficiency syndrome 1, 606777, GLUT1 deficiency syndrome 2, 612126

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

Details

History Filter Activity

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dystonia 9, 601042; GLUT1 deficiency syndrome 2, 612126; GLUT1 deficiency syndrome 1, 606777 for gene: SLC2A1

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC2A1.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to SLC2A1.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

18 Dec 2018, Gel status: 4

Added Tag

Eleanor Williams (Genomics England Curator)

Tag treatable tag was added to gene: SLC2A1.

15 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: SLC2A1 was added gene: SLC2A1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC2A1 were set to 18451999; 19630075; 18577546 Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1