Genomics England
GMS Panels
Panels
Genes and Entities

SPART

spartin
OMIM: 607111
PanelMode of inheritanceDetails
3 panels
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Troyer syndrome, OMIM:275900, Spastic paraplegia 20
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Troyer syndrome, OMIM:275900
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Troyer syndrome, OMIM:275900