Neonatal cholestasis

Gene: HFE2

Amber List (moderate evidence)

HFE2 (hemochromatosis type 2 (juvenile))
EnsemblGeneIds (GRCh38): ENSG00000168509
EnsemblGeneIds (GRCh37): ENSG00000168509
OMIM: 608374, Gene2Phenotype
HFE2 is in 11 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 HJV
Created: 15 Aug 2018, 9:30 a.m.

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