This Panel is marked as Deleted
Cholestasis Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 613609
- Clinvar variants
- Variants in HFE
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Monogenic diabetes
- Hypogonadotropic hypogonadism (GMS)
- COVID-19 research
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Paediatric or syndromic cardiomyopathy
- Familial hypercholesterolaemia
- Hypogonadotropic hypogonadism
- Iron metabolism disorders - NOT common HFE mutations
- Neonatal cholestasis
- Amyotrophic lateral sclerosis/motor neuron disease
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)HFE was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)HFE was created by Sarah Leigh