1. Genes and Genomic Entities
  2. SPTSSA

SPTSSA

serine palmitoyltransferase small subunit A
OMIM: 613540, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green SPTSSA in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Spastic paraplegia 90A, autosomal dominant, OMIM:620416
  • spastic paraplegia 90A, autosomal dominant, MONDO:0957308
  • ?Spastic paraplegia 90B, autosomal recessive, OMIM:620417
Green SPTSSA in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OMIM:620416.0
    • MONDO:0957308
    • SPTSSA-related complex hereditary spastic paraplegia