Neonatal cholestasis
Gene: HAMPEnsemblGeneIds (GRCh38): ENSG00000105697
EnsemblGeneIds (GRCh37): ENSG00000105697
OMIM: 606464, Gene2Phenotype
HAMP is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in unrelated cases of Hemochromatosis, type 2B 613313. This phenotype may not be directly relevant to neonatal cholestasis panel as the hepatic damage does not manifest in neonates.Created: 14 Aug 2018, 3:50 p.m.
Comment on phenotypes: This phenotype includes hepatic fibrosis, cirrhosis and hepatomegaly. Onset is usually before 30 years of age.Created: 14 Aug 2018, 3:40 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hemochromatosis, type 2B 613313
- OMIM
- 606464
- Clinvar variants
- Variants in HAMP
- Penetrance
- None
- Publications
- 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
- Hypogonadotropic hypogonadism (GMS)
- Iron metabolism disorders - NOT common HFE mutations
- Dilated Cardiomyopathy and conduction defects
- Neonatal cholestasis
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: hamp has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: hamp has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: hamp has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: hamp has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: HAMP were set to 12469120; 12915468
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: HAMP was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313
Added New Source
Ellen McDonagh (Genomics England Curator)HAMP was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)HAMP was created by Ellen McDonagh