Neonatal cholestasis
Gene: ALDOBComment on phenotypes: Added phenotypes suggested from external expert review.Created: 25 Jul 2018, 2:25 p.m.
Comment on list classification: Promoted from amber to green due to expert review. More than 3 unrelated families reported to date. Green gene on several panels including undiagnosed metabolic disorders Version 1.75. This gene is also on the Victorian Clinical Genetics Services gene panel.Created: 21 Jun 2018, 2:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
fructose deficiency; acute 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.
Phenotypes for gene: ALDOB were set to Neonatal and Adult Cholestasis; Fructose intolerance, hereditary; acute liver failure
Gene: aldob has been classified as Green List (High Evidence).
Gene: aldob has been classified as Green List (High Evidence).
Victorian Clinical Genetics Services was added to ALDOB. Panel: Cholestasis
UKGTN was added to ALDOB. Panel: Cholestasis Model of inheritance for gene ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene ALDOB were set to Neonatal and Adult Cholestasis, Fructose intolerance, hereditary
ALDOB was added to Cholestasis panel. Sources: Emory Genetics Laboratory
ALDOB was created by Ellen McDonagh