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Severe Paediatric Disorders

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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: AKR1D1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Bile acid synthesis defect, congenital, 2, 235555 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
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

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene AKR1D1 was changed from to BIALLELIC, autosomal or pseudoautosomal