Dilated Cardiomyopathy and conduction defects
Gene: HAMP
HAMP (hepcidin antimicrobial peptide)
EnsemblGeneIds (GRCh38): ENSG00000105697
EnsemblGeneIds (GRCh37): ENSG00000105697
OMIM: 606464, Gene2Phenotype
HAMP is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000105697
EnsemblGeneIds (GRCh37): ENSG00000105697
OMIM: 606464, Gene2Phenotype
HAMP is in 10 panels
3 reviews
Rebecca Whittington (South West GLH)
Hemochromatosis, type 2B OMIM:613313Created: 25 Mar 2019, 4:30 p.m.
Assoc with haemochromatosis type 2B Blood2018132:101-110;doi: https://doi.org/10.1182/blood-2018-02-830562. - early onset - age of onset usually before 30 years a range of features main cause of death is cardiac failure. See gene reviews: https://www.ncbi.nlm.nih.gov/books/NBK1170/.Created: 25 Mar 2019, 4:27 p.m.
Is haemochromatosis relevant on this panel?Created: 25 Mar 2019, 4:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.Created: 17 Jan 2019, 5:41 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: 16 Mar 2017, 4:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemochromatosis, type 2B 613313
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Wessex and West Midlands GLH
- Expert Review Green
- Expert Review
- Phenotypes
-
- Hemochromatosis, type 2B 613313
- OMIM
- 606464
- Clinvar variants
- Variants in HAMP
- 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
- Hypogonadotropic hypogonadism (GMS)
- Hypogonadotropic hypogonadism
- Iron metabolism disorders - NOT common HFE mutations
- Dilated Cardiomyopathy and conduction defects
- Neonatal cholestasis
History Filter Activity
21 Feb 2019, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to HAMP.
17 Jan 2019, Gel status: 3
Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source Wessex and West Midlands GLH was added to HAMP. Rating Changed from Green List (high evidence) to Green List (high evidence)
16 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
16 Mar 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)HAMP was created by sleigh
16 Mar 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)HAMP was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert Review