Amyotrophic lateral sclerosis/motor neuron disease
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
1 review
Ellen McDonagh (Genomics England Curator)
May be a disease-modifying genes - see PMID: 24488689.Created: 15 Jun 2016, 2:21 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Literature
- OMIM
- 613609
- Clinvar variants
- Variants in HFE
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Monogenic diabetes
- Hypogonadotropic hypogonadism (GMS)
- COVID-19 research
- Dilated Cardiomyopathy and conduction defects
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Adult onset neurodegenerative disorder
- Familial hypercholesterolaemia
- Hypogonadotropic hypogonadism
- Iron metabolism disorders - NOT common HFE mutations
- Childhood onset dystonia, chorea or related movement disorder
- Neonatal cholestasis
- Amyotrophic lateral sclerosis/motor neuron disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
19 Dec 2016, Gel status: 0
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 19th December 2016 following external review and internal curation
15 Jun 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)HFE was created by ellenmcdonagh
15 Jun 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)HFE was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Literature