Neonatal cholestasisGene: HFE
Comment on publications: PMID 12060140 reports three siblings aged 4-7 years at presentation, two were compound heterozygotes for p.C282Y and p.H63D, and one was heterozygous for p.H63D.
Created: 29 Aug 2018, 10:32 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in numerous unrelated cases. This phenotype may not be directly relevant to neonatal cholestasis panel as the hepatic damage does not manifest in neonates.
Created: 15 Aug 2018, 8:44 a.m.
This panel has been subjected to extensive internal and external review.
Publications for gene: HFE were set to 12060140
Gene: hfe has been classified as Amber List (Moderate Evidence).
Gene: hfe has been classified as Red List (Low Evidence).
Phenotypes for gene: HFE were set to Hemochromatosis 235200
Mode of inheritance for gene: HFE was changed from to BIALLELIC, autosomal or pseudoautosomal
HFE was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
HFE was created by Ellen McDonagh