Dilated Cardiomyopathy and conduction defects
Gene: TFR2
TFR2 (transferrin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000106327
EnsemblGeneIds (GRCh37): ENSG00000106327
OMIM: 604720, Gene2Phenotype
TFR2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000106327
EnsemblGeneIds (GRCh37): ENSG00000106327
OMIM: 604720, Gene2Phenotype
TFR2 is in 10 panels
3 reviews
Rebecca Whittington (South West GLH)
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
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.
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: 21 Mar 2017, 2:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemochromatosis, type 3 604250
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Wessex and West Midlands GLH
- Expert Review
- Expert Review Green
- Phenotypes
-
- Hemochromatosis, type 3 604250
- OMIM
- 604720
- Clinvar variants
- Variants in TFR2
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Hypogonadotropic hypogonadism
- Hypogonadotropic hypogonadism (GMS)
- Iron metabolism disorders - NOT common HFE mutations
- Dilated Cardiomyopathy and conduction defects
- Neonatal cholestasis
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Likely inborn error of metabolism
History Filter Activity
21 Feb 2019, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to TFR2.
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 TFR2. Rating Changed from Green List (high evidence) to Green List (high evidence)
17 Aug 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)TFR2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert Review,Expert Review Green
17 Aug 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TFR2 was created by ellenmcdonagh