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DDG2P

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

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555
OMIM
604741
Clinvar variants
Variants in AKR1D1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: AKR1D1 was added gene: AKR1D1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 235555