Cytopenias and congenital anaemiasGene: NUDT1
Within chromosomal location that is deleted in TAR syndrome. No data in Gene2Phenotype and no phenotypes linked to gene in OMIM. Unable to find literature on pubmed linking gene variants to anaemias, cytopenias or TAR syndrome (other than gene location in
Created: 9 Mar 2017, 4:32 p.m.
Thrombocytopenia Absent-Radius Syndrome
The UKGTN gene dossier explains that a 200kb deletion at 1q21.1 encompassing the genes; HFE2, TXNIP, PLOR3GL, ANKRD34A, LIX1L, RBM8A, GNRHR2, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT1, is tested for diagnosis of Thrombocytopenia Absent-Radius Syndrome. "PLOR3GL" is likely to be POLR3GL, the correct spelling for this gene in this region.
Created: 25 Jun 2015, 11 a.m.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
NUDT1 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
NUDT1 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
NUDT1 was created by LouiseD