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  3. AKR1D1
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Miscellaneous Metabolic Disorders

Gene: AKR1D1

Green List (high evidence)
AKR1D1 (aldo-keto reductase family 1 member D1)
EnsemblGeneIds (GRCh38): ENSG00000122787
EnsemblGeneIds (GRCh37): ENSG00000122787
OMIM: 604741, Gene2Phenotype
AKR1D1 is in 9 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Inborn error of bile acid metabolism. At least 6 cases (with 5 variants) in 5 families reported.
Sources: NHS GMS
Created: 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

Created: 22 Jan 2021, 6:07 a.m.

Panel version: 0.24

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 1 Nov 2020, 7:36 a.m.
Last Modified: 1 Nov 2020, 7:36 a.m.
Panel version: Imported from Mendeliome panel version 0.5219

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid synthesis defect, congenital, 2 MIM#235555
  • disorder of bile acid metabolism
Tags
treatable
OMIM
604741
Clinvar variants
Variants in AKR1D1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: AKR1D1.

22 Jan 2021, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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

22 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: akr1d1 has been classified as Green List (High Evidence).

22 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: akr1d1 has been classified as Green List (High Evidence).

22 Jan 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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