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Fetal anomalies

Gene: NT5C3A

Red List (low evidence)

NT5C3A (5'-nucleotidase, cytosolic IIIA)
EnsemblGeneIds (GRCh38): ENSG00000122643
EnsemblGeneIds (GRCh37): ENSG00000122643
OMIM: 606224, Gene2Phenotype
NT5C3A is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NT5C3A gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
Created: 11 Dec 2018, 9:05 a.m.

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to NT5C3A. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: NT5C3A was added gene: NT5C3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NT5C3A were set to HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY