Neonatal cholestasis
Gene: HAMPComment 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.
This panel has been subjected to extensive internal and external review.
Gene: hamp has been classified as Amber List (Moderate Evidence).
Gene: hamp has been classified as Red List (Low Evidence).
Gene: hamp has been classified as Amber List (Moderate Evidence).
Gene: hamp has been classified as Amber List (Moderate Evidence).
Publications for gene: HAMP were set to 12469120; 12915468
Mode of inheritance for gene: HAMP was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313
HAMP was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
HAMP was created by Ellen McDonagh