Hereditary spastic paraplegia

Gene: SLC1A4

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

• 29989513
• 27193218
• 26138499
• 26041762
• 25930971