Neonatal cholestasis

Gene: HAMP

Amber List (moderate evidence)

HAMP (hepcidin antimicrobial peptide)
EnsemblGeneIds (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.

History Filter Activity

3 Sep 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

15 Aug 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hamp has been classified as Amber List (Moderate Evidence).

15 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hamp has been classified as Red List (Low Evidence).

14 Aug 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hamp has been classified as Amber List (Moderate Evidence).

14 Aug 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hamp has been classified as Amber List (Moderate Evidence).

14 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HAMP were set to 12469120; 12915468

14 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: HAMP was changed from to BIALLELIC, autosomal or pseudoautosomal

14 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313

14 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HAMP was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services

21 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

HAMP was created by Ellen McDonagh