Likely inborn error of metabolism
Gene: NT5C3A

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

Created: 23 Feb 2017, 5:15 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

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

27604308

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