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Inborn errors of metabolism

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

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 5 variants reported in at least 3 cases together with in vitro data.
Created: 23 Feb 2017, 5:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 2 235555

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis)
  • Bile acid synthesis defect, congenital, 2 235555
OMIM
604741
Clinvar variants
Variants in AKR1D1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to AKR1D1. Source London North GLH was added to AKR1D1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: AKR1D1 was added gene: AKR1D1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1D1 were set to 27604308; 24816252 Phenotypes for gene: AKR1D1 were set to ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis); Bile acid synthesis defect, congenital, 2 235555