Cytopenias and congenital anaemiasGene: PEX11B
Linked to ?Peroxisome biogenesis disorder 14B in OMIM. No results on Gene2Phenotype. Unable to find literature linking variants in gene to TAR syndrome, anaemia or pytopenia. Within the deleted region 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, 10:59 a.m.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
PEX11B was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
PEX11B was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
PEX11B was created by LouiseD