NT5C2

5'-nucleotidase, cytosolic II
OMIM: 600417
PanelMode of inheritanceDetails
3 panels
R-numbers: R60
Signed-off version 1.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spasticparaplegia45, autosomal recessive, 613162, Spastic paraplegia 45, autosomal recessive, 613162, AR
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 45, autosomal recessive, 613162
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 45, autosomal recessive, 613162, Intellectual disability