Genomics England
GMS Panels
Panels
Genes and Entities

SPART

spartin
OMIM: 607111
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary spastic paraplegia - childhood onset
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Troyer syndrome, OMIM:275900, Spastic paraplegia 20
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Troyer syndrome, OMIM:275900