Familial hypercholesterolaemia
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 Thomas (Genomics England)
Details
- Sources
-
- Eligibility statement prior genetic testing
- Phenotypes
-
- Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
- OMIM
- 613609
- Clinvar variants
- Variants in HFE
- Penetrance
- Complete
- Publications
-
- PMID: 23433580
- 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
7 Oct 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)HFE was added to Familial hypercholesterolaemiapanel. Sources: Eligibility statement prior genetic testing