NT5C2

5'-nucleotidase, cytosolic II
OMIM: 600417
PanelMode of inheritanceDetails
2 panels
R-numbers: R61
Signed-off version 3.1
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 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 45, autosomal recessive, 613162, Intellectual disability