Paediatric or syndromic cardiomyopathy
Gene: HFEEnsemblGeneIds (GRCh38): ENSG00000010704
EnsemblGeneIds (GRCh37): ENSG00000010704
OMIM: 613609, Gene2Phenotype
HFE is in 15 panels
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Ellen McDonagh (Genomics England Curator)
This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.Created: 18 Apr 2019, 11:53 a.m.
Phenotypes
Haemochromatosis; Iron overload, liver disease, diabetes, hypogonadism; HCM; DCM; Hypertrophic-hypocontractile cardiomyopathy
Publications
- National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- MetBioNet
- MetBioNet
- Phenotypes
-
- Hemochromatosis, OMIM:235200
- Iron overload, liver disease, diabetes, hypogonadism
- Hypertrophic-hypocontractile cardiomyopathy
- OMIM
- 613609
- Clinvar variants
- Variants in HFE
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Hypogonadotropic hypogonadism (GMS)
- COVID-19 research
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Familial hypercholesterolaemia
- Hypogonadotropic hypogonadism
- Iron metabolism disorders - NOT common HFE mutations
- Neonatal cholestasis
- Amyotrophic lateral sclerosis/motor neuron disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HFE were changed from DCM; Iron overload, liver disease, diabetes, hypogonadism; Hypertrophic-hypocontractile cardiomyopathy; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism); Haemochromatosis; Hemochromatosis, 235200; Hemochromatosis; HCM to Hemochromatosis, OMIM:235200; Iron overload, liver disease, diabetes, hypogonadism; Hypertrophic-hypocontractile cardiomyopathy
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to HFE. Source Expert Review Amber was added to HFE. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: HFE was added gene: HFE was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HFE were set to 27604308 Phenotypes for gene: HFE were set to DCM; Iron overload, liver disease, diabetes, hypogonadism; Hypertrophic-hypocontractile cardiomyopathy; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism); Haemochromatosis; Hemochromatosis, 235200; Hemochromatosis; HCM