SPTSSA

serine palmitoyltransferase small subunit A
OMIM: 613540, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber SPTSSA in Childhood onset hereditary spastic paraplegia


Version 5.1
Latest signed off version: v5.0 (1 May 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spastic paraplegia 90A, autosomal dominant, OMIM:620416
  • ?Spastic paraplegia 90B, autosomal recessive, OMIM:620417