Dilated Cardiomyopathy and conduction defects
Gene: HFE2
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
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.
Added new-gene-name tag, new approved HGNC gene symbol is HJVCreated: 21 Mar 2018, 1:37 p.m.
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
Source South West GLH was added to HFE2.
Source Wessex and West Midlands GLH was added to HFE2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
HFE2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert Review
HFE2 was created by sleigh