ENTPD1

ectonucleoside triphosphate diphosphohydrolase 1
OMIM: 601752
PanelMode of inheritanceDetails
4 panels
R-numbers: R61
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 64, autosomal recessive, OMIM:615683
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 64, autosomal recessive, OMIM:615683
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 64, autosomal recessive, OMIM:615683
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 64, autosomal recessive, OMIM:615683