Hypogonadotropic hypogonadism
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
2 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol is HJVCreated: 21 Mar 2018, 1:37 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, 12:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemochromatosis 235200
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review
- Phenotypes
-
- Hemochromatosis 235200
- Tags
- OMIM
- 608374
- Clinvar variants
- Variants in HFE2
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- Hypogonadotropic hypogonadism
- Iron metabolism disorders - NOT common HFE mutations
- Dilated Cardiomyopathy and conduction defects
- Neonatal cholestasis
History Filter Activity
20 Mar 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)HFE2 was created by sleigh
20 Mar 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)HFE2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Expert Review