1. Panels
  2. Differences of Sex Development
  3. AKR1C2
STRs in panel
Prev Next
Regions in panel
Prev Next

Differences of Sex Development

Gene: AKR1C2

Red List (low evidence)
AKR1C2 (aldo-keto reductase family 1 member C2)
EnsemblGeneIds (GRCh38): ENSG00000151632
EnsemblGeneIds (GRCh37): ENSG00000151632
OMIM: 600450, Gene2Phenotype
AKR1C2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two families reported. However, note variants in AKR1C4 also segregated with the phenotype in one of the families. No additional reports since.
Created: 13 Jul 2020, 4:24 a.m. | Last Modified: 13 Jul 2020, 4:24 a.m.
Panel Version: 0.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
46XY sex reversal 8, MIM# 614279

Publications

Created: 13 Jul 2020, 4:24 a.m.
Last Modified: 13 Jul 2020, 4:24 a.m.
Panel version: 0.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • 46XY sex reversal 8, MIM# 614279
OMIM
600450
Clinvar variants
Variants in AKR1C2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akr1c2 has been classified as Red List (Low Evidence).

13 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AKR1C2 were changed from to 46XY sex reversal 8, MIM# 614279

13 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AKR1C2 were set to

13 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AKR1C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

13 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akr1c2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AKR1C2 was added gene: AKR1C2 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AKR1C2 was set to Unknown