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Inborn errors of metabolism

Gene: NT5C3A

Green List (high evidence)

NT5C3A (5'-nucleotidase, cytosolic IIIA)
EnsemblGeneIds (GRCh38): ENSG00000122643
EnsemblGeneIds (GRCh37): ENSG00000122643
OMIM: 606224, Gene2Phenotype
NT5C3A is in 8 panels

1 review

Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

Green List (high evidence)

hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Many unrelated cases PMID: 11369620, 12930399, 12714505,15238149. Variant confirmed as causative for the disorder in DD http://www.ebi.ac.uk/gene2phenotype/gfd?search_type=gfd&dbID=78 . On Radboud MENDELIOME/MCA METABOLIC DISORDERS panel
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anemia, hemolytic, due to UMPH1 deficiency, 266120

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Anemia, hemolytic, due to UMPH1 deficiency, 266120
  • Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism)
OMIM
606224
Clinvar variants
Variants in NT5C3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NT5C3A. Source London North GLH was added to NT5C3A.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NT5C3A was added gene: NT5C3A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C3A were set to 27604308 Phenotypes for gene: NT5C3A were set to Anemia, hemolytic, due to UMPH1 deficiency, 266120; Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism)