Neonatal cholestasisGene: SLC40A1
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified however, Hemochromatosis, type 4 606069 does not appear to be relevant to this panel as it does not develop in neonates or children.
Created: 21 Aug 2018, 11:52 a.m.
This panel has been subjected to extensive internal and external review.
Gene: slc40a1 has been classified as Red List (Low Evidence).
Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069
Mode of inheritance for gene: SLC40A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SLC40A1 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
SLC40A1 was created by Ellen McDonagh