Genomics England
GMS Panels
Panels
Genes and Entities

NT5E

5'-nucleotidase ecto
OMIM: 129190
PanelMode of inheritanceDetails
2 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Calcification of joints and arteries, OMIM:211800, hereditary arterial and articular multiple calcification syndrome, MONDO:0008895
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Calcification of joints and arteries, OMIM:211800, hereditary arterial and articular multiple calcification syndrome, MONDO:0008895