Anaemias and red cell disorders
Gene: NT5C3A

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Enzyme Disorder; Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Publications

11369620

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

UKGTN

Phenotypes

HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY

OMIM

606224

Clinvar variants

Variants in NT5C3A

Penetrance

Complete

Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NT5C3A was added to Anaemias and red cell disorderspanel. Sources: UKGTN

22 Jul 2016, Gel status: 0

Created