Adult onset neurodegenerative disorder
Gene: HFEEnsemblGeneIds (GRCh38): ENSG00000010704
EnsemblGeneIds (GRCh37): ENSG00000010704
OMIM: 613609, Gene2Phenotype
HFE is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Weak association as risk factor. Based on small numbers.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
Unknown
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
- OMIM
- 613609
- Clinvar variants
- Variants in HFE
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hypogonadotropic hypogonadism (GMS)
- COVID-19 research
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Paediatric or syndromic cardiomyopathy
- Familial hypercholesterolaemia
- Likely inborn error of metabolism
- Monogenic diabetes
- Hypogonadotropic hypogonadism
- Iron metabolism disorders - NOT common HFE mutations
- Neonatal cholestasis
- Amyotrophic lateral sclerosis/motor neuron disease
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene HFE were changed from to 17828789
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HFE.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to HFE.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: HFE was added gene: HFE was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: HFE was set to Unknown