Hereditary spastic paraplegia - childhood 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 24 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Childhood onset.
Created: 10 May 2019, 9:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Arianna Tucci (Genomics England Curator)

Onset in infancy or childhood
Created: 25 Feb 2019, 11:37 a.m.

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added phenotypes from OMIM (with HSP)
Created: 28 Jan 2019, 2:02 p.m.
Comment on publications: added publication suggested by internal clinical review
Created: 28 Jan 2019, 2 p.m.

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Updated MOI from biallelic to monoallelic as agreed with Arianna. Although Biallelic MOI is suggested by the Reviewer Chris Buxton on the Hereditary spastic paraplegia panel, PMIDs:27725288, 11136715 and 21832227 show autosomal dominant inheritance for the GLUT1 deficiency (including HSP phenotype).
Created: 28 Jan 2019, 12:27 p.m.
Comment on list classification: Updated rating from Red to Green following review on the 'Hereditary spastic paraplegia' panel. Age of onset of Spastic paraplegia in patients from PMID:27725288 includes 'Infancy, 3 yr, 4 yr, 10 yr, not examined).
Created: 28 Jan 2019, 12:26 p.m.

History Filter Activity

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC2A1.

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SLC2A1.

3 Apr 2019, Gel status: 3

Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Added phenotypes spastic paraplegia; seizure; Dystonia 9, 601042; Developmental delay; paroxysmal choreoathetosis for gene: SLC2A1 Rating Changed from Green List (high evidence) to Green List (high evidence)

28 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

28 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SLC2A1 were changed from paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay to Dystonia 9, 601042; paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay

28 Jan 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SLC2A1 were set to 21832227; 18606970; 11136715

28 Jan 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: SLC2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

19 Dec 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: SLC2A1 was added gene: SLC2A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: SLC2A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A1 were set to 21832227; 18606970; 11136715 Phenotypes for gene: SLC2A1 were set to paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay