Cytopenias and congenital anaemias
Gene: NT5C3A

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 10 variants reported.
Created: 9 Mar 2017, 11:51 a.m.

Comment on phenotypes: Enzyme Disorder; Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Created: 9 Mar 2017, 11:49 a.m.

Created: 9 Mar 2017, 11:49 a.m.

Panel version: 0.479

Louise Daugherty (Genomics England Curator)

Comment on publications: 12930399 (3 unrelated cases), 12714505 (2 unrelated cases), 11369620 (3 unrelated cases)
Created: 1 Mar 2017, 3:20 p.m.

Created: 1 Mar 2017, 3:19 p.m.

Panel version: 0.271

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: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Anemia, hemolytic, due to UMPH1 deficiency 266120

OMIM

606224

Clinvar variants

Variants in NT5C3A

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NT5C3A were set to Anemia, hemolytic, due to UMPH1 deficiency 266120

1 Mar 2017, Gel status: 4