Cytopenias and congenital anaemiasGene: PIAS3
Note: also known as FLJ14651 or ZMIZ5, although HGNC name = PIAS3. No phenotypic data linked to gene on OMIM, no results on Gene2Phenotype. Unable to find literature linking gene variants to phenotype other than that the gene is in the deleted area in 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, 11 a.m.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
PIAS3 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
PIAS3 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
PIAS3 was created by LouiseD