Neonatal cholestasis
Gene: HFE2
HFE2 (hemochromatosis type 2 (juvenile))
EnsemblGeneIds (GRCh38): ENSG00000168509
EnsemblGeneIds (GRCh37): ENSG00000168509
OMIM: 608374, Gene2Phenotype
HFE2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000168509
EnsemblGeneIds (GRCh37): ENSG00000168509
OMIM: 608374, Gene2Phenotype
HFE2 is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified.
This phenotype may not be directly relevant to neonatal cholestasis panel as the hepatic damage does not manifest in neonates, but onset is usually before age 30.Created: 15 Aug 2018, 9:47 a.m.
New gene name will be HJVCreated: 15 Aug 2018, 9:30 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hemochromatosis, type 2A 602390
- Tags
- OMIM
- 608374
- Clinvar variants
- Variants in HFE2
- Penetrance
- None
- Panels with this gene
-
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- Hypogonadotropic hypogonadism
- Monogenic diabetes
- Iron metabolism disorders - NOT common HFE mutations
- Dilated Cardiomyopathy and conduction defects
- Neonatal cholestasis
- Undiagnosed metabolic disorders
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.
15 Aug 2018, Gel status: 2
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: hfe2 has been classified as Amber List (Moderate Evidence).
15 Aug 2018, Gel status: 2
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: hfe2 has been classified as Amber List (Moderate Evidence).
15 Aug 2018, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: HFE2 was changed from to BIALLELIC, autosomal or pseudoautosomal
15 Aug 2018, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A 602390
21 Jun 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HFE2 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)HFE2 was created by Ellen McDonagh