Hereditary spastic paraplegia

Gene: SLC1A4

Green List (high evidence)

SLC1A4 (solute carrier family 1 member 4)
EnsemblGeneIds (GRCh38): ENSG00000115902
EnsemblGeneIds (GRCh37): ENSG00000115902
OMIM: 600229, Gene2Phenotype
SLC1A4 is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Created: 31 Oct 2018, 2:34 p.m.
From review left on the Genetic Epilepsy Syndromes panel by Zornitza Stark (Australian Genomics) 4 Sep 2018, 3:29 a.m. Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants.
Due to relevant phenotypes associated to this disorder the Genomics England clinical team recommended the gene was added to the Hereditary spastic paraplegia panel.
Created: 31 Oct 2018, 2:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
OMIM
600229
Clinvar variants
Variants in SLC1A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: slc1a4 has been classified as Green List (High Evidence).

31 Oct 2018, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: SLC1A4 was added gene: SLC1A4 was added to Hereditary spastic paraplegia. Sources: Expert Review Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971 Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 Review for gene: SLC1A4 was set to GREEN