Hypogonadotropic hypogonadism (GMS)
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
2 reviews
Simon Thomas (Wessex Regional Genetics Laboratory)
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Wessex and West Midlands GLH
- Expert Review Red
- NHS GMS
- South West GLH
- Phenotypes
-
- Haemochromatosis type 1 (OMIM 235200)
- OMIM
- 613609
- Clinvar variants
- Variants in HFE
- Penetrance
- None
- 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
22 Mar 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to HFE.
15 Mar 2019, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Haemochromatosis type 1 (OMIM 235200) for gene: HFE
15 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: HFE was added gene: HFE was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal