Miscellaneous Metabolic Disorders
Gene: AKR1D1
Inborn error of bile acid metabolism. At least 6 cases (with 5 variants) in 5 families reported.
Sources: NHS GMSCreated: 22 Jan 2021, 6:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bile acid synthesis defect, congenital, 2 MIM#235555
Publications
Variants in this GENE are reported as part of current diagnostic practice
Severe intrahepatic cholestasis progressing to liver failure. More than 3 unrelated families reported.Created: 1 Nov 2020, 7:36 a.m. | Last Modified: 1 Nov 2020, 7:36 a.m.
Panel Version: 0.5219
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bile acid synthesis defect, congenital, 2, MIM# 235555
Publications
Tag treatable tag was added to gene: AKR1D1.
Phenotypes for gene: AKR1D1 were changed from Bile acid synthesis defect, congenital, 2 MIM#235555 to Bile acid synthesis defect, congenital, 2 MIM#235555; disorder of bile acid metabolism
Gene: akr1d1 has been classified as Green List (High Evidence).
Gene: akr1d1 has been classified as Green List (High Evidence).
gene: AKR1D1 was added gene: AKR1D1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1D1 were set to 12970144; 20522910; 15030995 Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2 MIM#235555 Review for gene: AKR1D1 was set to GREEN gene: AKR1D1 was marked as current diagnostic