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  3. SLC2A1
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Hereditary Spastic Paraplegia - paediatric

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)

Spasticity is a feature.
Created: 14 Mar 2021, 8:23 a.m. | Last Modified: 14 Mar 2021, 8:23 a.m.
Panel Version: 0.211

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777

Created: 14 Mar 2021, 8:23 a.m.
Last Modified: 14 Mar 2021, 8:23 a.m.
Panel version: 0.211

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777
  • Developmental delay
  • autosomal dominant, complicated hereditary spastic paraplegia (HSP)
  • paroxysmal choreoathetosis
  • spastic paraplegia
  • seizure
OMIM
138140
Clinvar variants
Variants in SLC2A1
Penetrance
None
Panels with this gene

History Filter Activity

14 Mar 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).

14 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC2A1 were changed from Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777; Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure

14 Mar 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

31 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 Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC2A1 were set to Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure