Neonatal cholestasis

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 8 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 25 Jul 2018, 2:54 p.m.

Ellen McDonagh (Genomics England Curator)

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.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
bile salt synthesis defect; cholestasis; fat soluble vitamin deficiency; liver failure

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Bile acid synthesis defect, congenital, 2
  • Bile acid synthesis defect, congenital, 2 235555
  • bile salt synthesis defect
  • cholestasis
  • fat soluble vitamin deficiency
  • liver failure
OMIM
604741
Clinvar variants
Variants in AKR1D1
Penetrance
None
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

25 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: AKR1D1 were set to Neonatal and Adult Cholestasis; Bile acid synthesis defect, congenital, 2; Bile acid synthesis defect, congenital, 2 235555; bile salt synthesis defect; cholestasis; fat soluble vitamin deficiency; liver failure

21 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

21 Jun 2018, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: AKR1D1 were set to Neonatal and Adult Cholestasis; Bile acid synthesis defect, congenital, 2; Bile acid synthesis defect, congenital, 2 235555

21 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

21 Jun 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to AKR1D1. Panel: Cholestasis

18 May 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

UKGTN was added to AKR1D1. Panel: Cholestasis Model of inheritance for gene AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene AKR1D1 were set to Neonatal and Adult Cholestasis, Bile acid synthesis defect, congenital, 2

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AKR1D1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

AKR1D1 was created by Ellen McDonagh