Cytopenias and congenital anaemiasGene: POLR3GL
Within the area associated with the 1q21.1 deletion, which is thought to cause TAR syndrome. No phenotypes associated with it on OMIM or Gene2Phenotype. No results on pubmed for literature linking gene or variants to Anaemia, cytopenia or TAR syndrome.
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, 10:55 a.m.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
POLR3GL was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
POLR3GL was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
POLR3GL was created by LouiseD