Genomics England
GMS Panels
Panels
Genes and Entities

NT5C2

5'-nucleotidase, cytosolic II
OMIM: 600417
PanelMode of inheritanceDetails
2 panels
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 45, autosomal recessive, 613162
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 45, autosomal recessive, 613162, Intellectual disability