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Newborns main panel

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

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 27007796 (9 families, 7 variants) PMID: 33016646 (2 cases and lists 26 published cases)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HAMP. Added phenotypes Hemochromatosis, type 2B for gene: HAMP Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to HAMP. Added phenotypes Hemochromatosis, type 2B for gene: HAMP Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HAMP. Added phenotypes Hemochromatosis, type 2B for gene: HAMP Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hemochromatosis, type 2B for gene: HAMP

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: HAMP was added gene: HAMP was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal