Monogenic diabetes
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
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:49 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Phenotypes
-
- {Alzheimer disease, susceptibility to}, 104300
- Hemochromatosis, 235200
- {Microvascular complications of diabetes 7}, 612635
- {Porphyria variegata, susceptibility to}, 176200
- {Porphyria cutanea tarda, susceptibility to}, 176100
- Tags
- 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
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- 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
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: HFE.
30 Jan 2019, Gel status: 0
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Gene changed to grey status af
25 Jan 2019, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to HFE. Rating Changed from Green List (high evidence) to No List (delete)
18 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: HFE was added gene: HFE was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HFE were set to {Alzheimer disease, susceptibility to}, 104300; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria variegata, susceptibility to}, 176200; {Porphyria cutanea tarda, susceptibility to}, 176100