PanelApp (staging)
  1. Genes and Genomic Entities
  2. SPTSSA

SPTSSA

serine palmitoyltransferase small subunit A
OMIM: 613540, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SPTSSA in Mendeliome


Version 1.2302

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spastic paraplegia 90B, autosomal recessive , MIM# 620417
  • Spastic paraplegia 90A, autosomal dominant, MIM# 620416

Amber SPTSSA in Hereditary Spastic Paraplegia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.86

Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spastic paraplegia 90B, autosomal recessive , MIM# 620417
    • Spastic paraplegia 90A, autosomal dominant, MIM# 620416