Childhood onset hereditary spastic paraplegia
Gene: SLC2A1
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
Onset in infancy or childhoodCreated: 25 Feb 2019, 11:37 a.m.
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 reviewCreated: 28 Jan 2019, 2 p.m.
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.
Source NHS GMS was added to SLC2A1.
Source Yorkshire and North East GLH was added to SLC2A1.
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)
Rebecca Foulger: Comment on list classification
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
Publications for gene: SLC2A1 were set to 21832227; 18606970; 11136715
Mode of inheritance for gene: SLC2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: slc2a1 has been classified as Green List (High Evidence).
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