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, 10:33 a.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: AKR1D1; Suggested intial gene rating: Green; 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, 2:54 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
bile salt synthesis defect; cholestasis; fat soluble vitamin deficiency; liver failure
Variants in this GENE are reported as part of current diagnostic practice
Gene: akr1d1 has been classified as Green List (High Evidence).
Source Other was added to AKR1D1. Mode of inheritance for gene AKR1D1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bile acid synthesis defect, congenital, 2 235555; fat soluble vitamin deficiency; liver failure; bile salt synthesis defect; Bile acid synthesis defect, congenital, 2; Neonatal and Adult Cholestasis; cholestasis for gene: AKR1D1
Source Expert Review Green was added to AKR1D1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: AKR1D1 was added gene: AKR1D1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: AKR1D1 was set to