Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: HFE
HFE (hemochromatosis)
EnsemblGeneIds (GRCh38): ENSG00000010704
EnsemblGeneIds (GRCh37): ENSG00000010704
OMIM: 613609, Gene2Phenotype
HFE is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000010704
EnsemblGeneIds (GRCh37): ENSG00000010704
OMIM: 613609, Gene2Phenotype
HFE is in 15 panels
3 reviews
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: 20 Mar 2017, 11:47 a.m.
Ellen McDonagh (Genomics England Curator)
Remove gene from the panel.Created: 19 Oct 2015, 8:16 a.m.
Sian Ellard (University of Exeter Medical School)
no evidence to suggest HFE mutations cause monogenic diabetesCreated: 18 Oct 2015, 8:19 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hemochromatosis, 235200
- {Microvascular complications of diabetes 7}, 612635
- {Porphyria variegata, susceptibility to}, 176200
- {Porphyria cutanea tarda, susceptibility to}, 176100
- {Alzheimer disease, susceptibility to}, 104300
- OMIM
- 613609
- Clinvar variants
- Variants in HFE
- Penetrance
- Complete
- Panels with this gene
-
- COVID-19 research
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Neurodegenerative disorders, adult onset
- Hypogonadotropic hypogonadism (GMS)
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Iron metabolism disorders - NOT common HFE mutations
- Familial hypercholesterolaemia
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hypogonadotropic hypogonadism
- Amyotrophic lateral sclerosis/motor neuron disease
- Paediatric or syndromic cardiomyopathy
- Neonatal cholestasis
History Filter Activity
20 Mar 2017, Gel status: 4
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for HFE was changed to BIALLELIC, autosomal or pseudoautosomal
20 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Jul 2016, Gel status: 0
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
22 Jul 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
7 Jun 2016, Gel status: 0
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been removed from the panel.
17 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HFE was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen