Cytopenias and congenital anaemiasGene: ANKRD34A
No direct evidence linking this gene with the phenotype. Cannot find gene on OMIM. The phenotype is linked to a 200kb-500kb microdeletion in 1q21.1, so this would be classed as a structural variant rather than a deletion. This gene is within the ~12 genes that are deleted in this phenotype.
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, 10:56 a.m.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
ANKRD34A was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
ANKRD34A was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
ANKRD34A was created by LouiseD