Dilated Cardiomyopathy and conduction defects
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
4 reviews
Rebecca Whittington (South West GLH)
Hemochromatosis, type 2A OMIM# 602390Created: 25 Mar 2019, 4:30 p.m.
Assoc with haemochromatosis type 2A - this gene on omim is HJV?? early onset - age of onset usually before 30 years a range of features main cause of death is cardiac failure. See gene reviews: https://www.ncbi.nlm.nih.gov/books/NBK1170/. See https://omim.org/entry/608374#0009.Created: 25 Mar 2019, 4:27 p.m.
NOTE on panel app the gene is listed as HFE2 when on OMIM it is HJV. Is haemochromatosis relevant on this panel?Created: 25 Mar 2019, 4:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.Created: 17 Jan 2019, 5:41 p.m.
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol is HJVCreated: 21 Mar 2018, 1:37 p.m.
Sarah Leigh (Genomics England Curator)
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.Created: 20 Mar 2017, 12:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemochromatosis, type 2A, 602390
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Wessex and West Midlands GLH
- Expert Review Green
- Expert Review
- Phenotypes
-
- Hemochromatosis, type 2A, 602390
- Tags
- OMIM
- 608374
- Clinvar variants
- Variants in HFE2
- Penetrance
- Complete
- Panels with this gene
-
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Hypogonadotropic hypogonadism
- Iron metabolism disorders - NOT common HFE mutations
- Dilated Cardiomyopathy and conduction defects
- Neonatal cholestasis
History Filter Activity
21 Feb 2019, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to HFE2.
17 Jan 2019, Gel status: 3
Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source Wessex and West Midlands GLH was added to HFE2. Rating Changed from Green List (high evidence) to Green List (high evidence)
20 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Mar 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)HFE2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert Review
20 Mar 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)HFE2 was created by sleigh