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
Amber SPTSSA in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.30
Latest signed off version: v8.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spastic paraplegia 90A, autosomal dominant, OMIM:620416
  • spastic paraplegia 90A, autosomal dominant, MONDO:0957308
  • ?Spastic paraplegia 90B, autosomal recessive, OMIM:620417
Tags
  • Q1_25_ promote_green
Green SPTSSA in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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