Hereditary spastic paraplegiaGene: SLC1A4
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
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Gene: slc1a4 has been classified as Green List (High Evidence).
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