Cholestasis
Gene: ALDOB
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene greenCreated: 31 Jan 2019, 10:32 a.m.
Comment on list classification: Promoted from amber to green. As advised by the GMS Gastrohepatology Specialist group via email 15-01-2019. ALDOB is also a green gene on the Neonatal Cholestasis panel (Version 1.3).Created: 29 Jan 2019, 1:22 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: ALDOB; Suggested intial gene rating: Amber; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 7 Jan 2019, 4:42 p.m.
Comment 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
Gene: aldob has been classified as Green List (High Evidence).
Gene: aldob has been classified as Green List (High Evidence).
Source Other was added to ALDOB. Mode of inheritance for gene ALDOB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes acute liver failure; Neonatal and Adult Cholestasis; Fructose intolerance, hereditary for gene: ALDOB
Source Expert Review Amber was added to ALDOB. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: ALDOB was added gene: ALDOB was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: ALDOB was set to