Monogenic diabetes
Gene: HAMPEnsemblGeneIds (GRCh38): ENSG00000105697
EnsemblGeneIds (GRCh37): ENSG00000105697
OMIM: 606464, Gene2Phenotype
HAMP is in 10 panels
1 review
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:49 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Phenotypes
-
- Hemochromatosis, type 2B 613313
- Tags
- OMIM
- 606464
- Clinvar variants
- Variants in HAMP
- Penetrance
- None
- Panels with this gene
-
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hypogonadotropic hypogonadism (GMS)
- Hypogonadotropic hypogonadism
- Monogenic diabetes
- Iron metabolism disorders - NOT common HFE mutations
- Dilated Cardiomyopathy and conduction defects
- Neonatal cholestasis
- Undiagnosed metabolic disorders
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: HAMP.
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Gene changed to grey status af
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to HAMP. Rating Changed from Green List (high evidence) to No List (delete)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: HAMP was added gene: HAMP was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313