Dilated Cardiomyopathy and conduction defects
Gene: TFR2
Hemochromatosis, type 3 OMIM#604250Created: 25 Mar 2019, 4:30 p.m.
https://omim.org/clinicalSynopsis/604250. Cardiomyopathy is not a key feature so not a lot in literature - in Gene reviews states that cardiomyopathy is rare (https://www.ncbi.nlm.nih.gov/books/NBK1349/). Onset is younger than HFE - young adults upwards.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: 21 Mar 2017, 2:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemochromatosis, type 3 604250
Source South West GLH was added to TFR2.
Source Wessex and West Midlands GLH was added to TFR2. Rating Changed from Green List (high evidence) to Green List (high evidence)
TFR2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert Review,Expert Review Green
TFR2 was created by ellenmcdonagh