Monogenic diabetes
Gene: HFE2EnsemblGeneIds (GRCh38): ENSG00000168509
EnsemblGeneIds (GRCh37): ENSG00000168509
OMIM: 608374, Gene2Phenotype
HFE2 is in 10 panels
2 reviews
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.
Sarah Leigh (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol is HJVCreated: 19 Dec 2018, 10:49 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- 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
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Monogenic diabetes
- Hypogonadotropic hypogonadism
- Iron metabolism disorders - NOT common HFE mutations
- Dilated Cardiomyopathy and conduction defects
- Childhood onset dystonia, chorea or related movement disorder
- Neonatal cholestasis
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: HFE2.
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Sarah Leigh: Added new-gene-name tag, new a
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to HFE2. Rating Changed from Green List (high evidence) to No List (delete)
Added Tag
Sarah Leigh (Genomics England Curator)Tag new-gene-name tag was added to gene: HFE2.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: HFE2 was added gene: HFE2 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390