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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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Created: 7 Jan 2019, 4:42 p.m.

Panel version: 0.3

Louise Daugherty (Genomics England Curator)

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

Panel version: Imported from Neonatal cholestasis panel version 0.183

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.
Created: 21 Jun 2018, 2:27 p.m.

Panel version: Imported from Neonatal cholestasis panel version 0.20

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

Created: 16 Jun 2018, 5:48 p.m.

Panel version: Imported from Neonatal cholestasis panel version 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • Victorian Clinical Genetics Services
  • UKGTN
  • Emory Genetics Laboratory
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
OMIM
604741
Clinvar variants
Variants in AKR1D1
Penetrance
None
Panels with this gene

History Filter Activity

31 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Jan 2019, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to AKR1D1. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: AKR1D1 was added gene: AKR1D1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: AKR1D1 was set to