This Panel is marked as Internal
Early onset pancytopenia and red cell disorders
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.
Ellen McDonagh (Genomics England Curator)
The UKGTN gene dossier explains that a 200kb deletion at 1q21.1 encompassing the genes; HFE2, TXNIP, PLOR3GL, ANKRD34A, LIX1L, RBM8A, GNRHR2, PEX11B, ITGA10, ANKRD35, PIAS3, NUDT1, is tested for diagnosis of Thrombocytopenia Absent-Radius Syndrome. "PLOR3GL" is likely to be POLR3GL, the correct spelling for this gene in this region.Created: 25 Jun 2015, 10:55 a.m.
Details
- Sources
-
- UKGTN
- Phenotypes
-
- Thrombocytopenia Absent-Radius Syndrome
- 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
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HFE2 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
25 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HFE2 was added to Early onset pancytopenia and red cell disorderspanel. Sources: UKGTN