Dilated Cardiomyopathy and conduction defects
Gene: HFEEnsemblGeneIds (GRCh38): ENSG00000010704
EnsemblGeneIds (GRCh37): ENSG00000010704
OMIM: 613609, Gene2Phenotype
HFE is in 15 panels
3 reviews
Rebecca Whittington (South West GLH)
Hemochromatosis OMIM:235200; {HFE hemochromatosis, modifier of} OMIM#235200Created: 25 Mar 2019, 4:30 p.m.
Adult onset haemochromatosis.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
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment on list classification: Promotion of this gene from red to green 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, 11:52 a.m.
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Wessex and West Midlands GLH
- Expert Review Green
- Expert list
- Phenotypes
-
- Hemochromatosis 235200
- OMIM
- 613609
- Clinvar variants
- Variants in HFE
- Penetrance
- Complete
- Panels with this gene
-
- Hypogonadotropic hypogonadism (GMS)
- Dilated Cardiomyopathy and conduction defects
- COVID-19 research
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Familial hypercholesterolaemia
- Hypogonadotropic hypogonadism
- Monogenic diabetes
- Iron metabolism disorders - NOT common HFE mutations
- Paediatric or syndromic cardiomyopathy
- Neonatal cholestasis
- Amyotrophic lateral sclerosis/motor neuron disease
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to HFE.
Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source Wessex and West Midlands GLH was added to HFE. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for HFE were set to Hemochromatosis 235200
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for HFE was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)HFE was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list