Neonatal cholestasisGene: ABCD3
Associated with phenotype in OMIM, not in G2P. One homozygous patient identified. In Abcd3-/- mice, there was evidence of a bile acid biosynthesis defect.
Created: 21 Aug 2018, 1:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Bile acid synthesis defect, congenital, 5 616278
This panel has been subjected to extensive internal and external review.
Gene: abcd3 has been classified as Red List (Low Evidence).
ABCD3 was added to Neonatal cholestasis panel. Sources: Literature
ABCD3 was created by Sarah Leigh