Cytopenias and congenital anaemias
Gene: HFE2
HFE2 (hemochromatosis type 2 (juvenile))
EnsemblGeneIds (GRCh38): ENSG00000168509
EnsemblGeneIds (GRCh37): ENSG00000168509
OMIM: 608374, Gene2Phenotype
HFE2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000168509
EnsemblGeneIds (GRCh37): ENSG00000168509
OMIM: 608374, Gene2Phenotype
HFE2 is in 10 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol is HJVCreated: 21 Mar 2018, 1:36 p.m.
Olivia Niblock (Genomics England Curator)
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.
Phenotypes
Thrombocytopenia Absent-Radius Syndrome
Ellen McDonagh (Genomics England Curator)
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.
Details
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Thrombocytopenia Absent-Radius Syndrome
- Tags
- OMIM
- 608374
- Clinvar variants
- Variants in HFE2
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Monogenic diabetes
- Hypogonadotropic hypogonadism
- Cytopenias and congenital anaemias
- Undiagnosed metabolic disorders
- Iron metabolism disorders - NOT common HFE mutations
- Dilated Cardiomyopathy and conduction defects
- Neonatal cholestasis
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
9 Mar 2017, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)HFE2 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
17 Feb 2017, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)HFE2 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)HFE2 was created by LouiseD