Cholestasis

Gene: ALDOB

I don't know

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 green

Created: 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 given

Created: 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.

Green List (high evidence)

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