Genomics England
GMS Panels
Panels
Genes and Entities

NT5C3A

5'-nucleotidase, cytosolic IIIA
OMIM: 606224
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY 266120
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anemia, hemolytic, due to UMPH1 deficiency, 266120, Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism)
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anemia, hemolytic, due to UMPH1 deficiency, 266120, 266120 Anemia, hemolytic, due to UMPH1 deficiency