Neonatal cholestasis
Gene: AKR1D1Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 25 Jul 2018, 2:54 p.m.
Comment on list classification: More than 3 reported unrelated families/cases, Green expert review and part of the Victorian Clinical Genetics Services panel for cholestasis.Created: 21 Jun 2018, 2:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
bile salt synthesis defect; cholestasis; fat soluble vitamin deficiency; liver failure
Variants in this GENE are reported as part of current diagnostic practice
This panel has been subjected to extensive internal and external review.
Gene: akr1d1 has been classified as Green List (High Evidence).
Phenotypes for gene: AKR1D1 were set to Neonatal and Adult Cholestasis; Bile acid synthesis defect, congenital, 2; Bile acid synthesis defect, congenital, 2 235555; bile salt synthesis defect; cholestasis; fat soluble vitamin deficiency; liver failure
Gene: akr1d1 has been classified as Green List (High Evidence).
Phenotypes for gene: AKR1D1 were set to Neonatal and Adult Cholestasis; Bile acid synthesis defect, congenital, 2; Bile acid synthesis defect, congenital, 2 235555
Gene: akr1d1 has been classified as Green List (High Evidence).
Victorian Clinical Genetics Services was added to AKR1D1. Panel: Cholestasis
UKGTN was added to AKR1D1. Panel: Cholestasis Model of inheritance for gene AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene AKR1D1 were set to Neonatal and Adult Cholestasis, Bile acid synthesis defect, congenital, 2
AKR1D1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
AKR1D1 was created by Ellen McDonagh