Dilated Cardiomyopathy and conduction defects
Gene: HAMP
Hemochromatosis, type 2B OMIM:613313Created: 25 Mar 2019, 4:30 p.m.
Assoc with haemochromatosis type 2B Blood2018132:101-110;doi: https://doi.org/10.1182/blood-2018-02-830562. - 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/.Created: 25 Mar 2019, 4:27 p.m.
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.
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: 16 Mar 2017, 4:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemochromatosis, type 2B 613313
Source South West GLH was added to HAMP.
Source Wessex and West Midlands GLH was added to HAMP. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
HAMP was created by sleigh
HAMP was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert Review