Genomics England
GMS Panels
Panels
Genes and Entities

SPTSSA

serine palmitoyltransferase small subunit A
OMIM: 613540
PanelMode of inheritanceDetails
2 panels
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 90A, autosomal dominant, OMIM:620416, spastic paraplegia 90A, autosomal dominant, MONDO:0957308, ?Spastic paraplegia 90B, autosomal recessive, OMIM:620417
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
OMIM:620416.0, MONDO:0957308, SPTSSA-related complex hereditary spastic paraplegia