Genomics England
GMS Panels
Panels
Genes and Entities

ENTPD1

ectonucleoside triphosphate diphosphohydrolase 1
OMIM: 601752
PanelMode of inheritanceDetails
1 panel
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 64, autosomal recessive, OMIM:615683