Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: HFE2EnsemblGeneIds (GRCh38): ENSG00000168509
EnsemblGeneIds (GRCh37): ENSG00000168509
OMIM: 608374, Gene2Phenotype
HFE2 is in 10 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol is HJVCreated: 21 Mar 2018, 1:36 p.m.
Sarah Leigh (Genomics England Curator)
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.Created: 20 Mar 2017, 12:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemochromatosis, type 2A, 602390
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Hemochromatosis, type 2A, 602390
- Tags
- OMIM
- 608374
- Clinvar variants
- Variants in HFE2
- Penetrance
- Complete
- 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
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)HFE2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review
Created
Sarah Leigh (Genomics England Curator)HFE2 was created by sleigh