Likely inborn error of metabolism
Gene: AKR1D1

AKR1D1 (aldo-keto reductase family 1 member D1)
EnsemblGeneIds (GRCh38): ENSG00000122787
EnsemblGeneIds (GRCh37): ENSG00000122787
OMIM: 604741, Gene2Phenotype
AKR1D1 is in 8 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

Created: 23 Feb 2017, 5:11 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

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