Neonatal cholestasis
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
Sarah Leigh (Genomics England Curator)
Comment on publications: PMID 12060140 reports three siblings aged 4-7 years at presentation, two were compound heterozygotes for p.C282Y and p.H63D, and one was heterozygous for p.H63D.Created: 29 Aug 2018, 10:32 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in numerous unrelated cases. This phenotype may not be directly relevant to neonatal cholestasis panel as the hepatic damage does not manifest in neonates.Created: 15 Aug 2018, 8:44 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hemochromatosis 235200
- OMIM
- 613609
- Clinvar variants
- Variants in HFE
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Hypogonadotropic hypogonadism (GMS)
- COVID-19 research
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Familial hypercholesterolaemia
- Hypogonadotropic hypogonadism
- Iron metabolism disorders - NOT common HFE mutations
- Neonatal cholestasis
- Amyotrophic lateral sclerosis/motor neuron disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
3 Sep 2018, Gel status: 2
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
29 Aug 2018, Gel status: 2
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: HFE were set to 12060140
15 Aug 2018, Gel status: 2
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: hfe has been classified as Amber List (Moderate Evidence).
15 Aug 2018, Gel status: 1
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: hfe has been classified as Red List (Low Evidence).
15 Aug 2018, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: HFE were set to Hemochromatosis 235200
15 Aug 2018, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: HFE was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Jun 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HFE was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)HFE was created by Ellen McDonagh