Cytopenias and congenital anaemiasGene: HFE2
Added new-gene-name tag, new approved HGNC gene symbol is HJV
Created: 21 Mar 2018, 1:36 p.m.
Note: widely known in the literature as HJV or HFE2A, although HGNC name = HFE2. Some evidence that mutations in gene can cause Hereditary hemochromatosis (23722909, 22428539, 14647275,11005792) which results in iron overload. No evidence found to suggest variants in gene are linked to anaemias or cytopenias.
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.
HFE2 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
HFE2 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
HFE2 was created by LouiseD