Dilated Cardiomyopathy and conduction defects
Gene: SLC40A1
Hemochromatosis, type 4 OMIM#606069Created: 25 Mar 2019, 4:30 p.m.
Associated with AD Haemochromatosis which can be more paediatric to adult onset as shown in OMIM (see this variant SLC40A1, 3-BP DEL, VAL162DEL). Griffiths 2010 (Hepatology. 2010 Mar;51(3):788-95. doi: 10.1002/hep.23377). No Gene reviews and on OMIM does not go into details about how common the cardiac features are.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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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: 21 Mar 2017, 2:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hemochromatosis, type 4 606069
Source South West GLH was added to SLC40A1.
Source Wessex and West Midlands GLH was added to SLC40A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
SLC40A1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert Review,Expert Review Green
SLC40A1 was created by ellenmcdonagh