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  2. Liver Failure_Paediatric
  3. AKR1D1
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Liver Failure_Paediatric

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

1 review

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.
Sources: Expert list
Created: 1 Nov 2020, 7:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 2, MIM# 235555

Publications

Created: 1 Nov 2020, 7:34 a.m.

Panel version: 0.44

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bile acid synthesis defect, congenital, 2, MIM# 235555
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.

1 Nov 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AKR1D1 were set to 12970144

1 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AKR1D1 was added gene: AKR1D1 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1D1 were set to 12970144 Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2, MIM# 235555 Review for gene: AKR1D1 was set to GREEN