Cytopenias and congenital anaemias
Gene: HEPH
HEPH (hephaestin)
EnsemblGeneIds (GRCh38): ENSG00000089472
EnsemblGeneIds (GRCh37): ENSG00000089472
OMIM: 300167, Gene2Phenotype
HEPH is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000089472
EnsemblGeneIds (GRCh37): ENSG00000089472
OMIM: 300167, Gene2Phenotype
HEPH is in 2 panels
1 review
Olivia Niblock (Genomics England Curator)
Literature to suggest that HEPH mutations affect iron absorbtion in murine models (24896847; 15778082). Mice with HEPH-/y phenotypes were seen to be anemic, but this resolved itself with age. This resolution of anemia and ability to compensate for it is also supported by 22331876. Unable to find any literature citing human subjects.Created: 9 Mar 2017, 4:32 p.m.
Publications
Details
- Sources
-
- Expert Review Red
- UKGTN
- OMIM
- 300167
- Clinvar variants
- Variants in HEPH
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
9 Mar 2017, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)HEPH was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)HEPH was created by LouiseD
17 Feb 2017, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)HEPH was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN