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Intellectual disability syndromic and non-syndromic

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)

Variants in this gene are associated with DSD, intellectual disability is not a feature.
Created: 23 Nov 2019, 3:13 a.m. | Last Modified: 23 Nov 2019, 3:13 a.m.
Panel Version: 0.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
46XY sex reversal 8, MIM#614279

Details

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

History Filter Activity

6 Dec 2019, 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).

6 Dec 2019, 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

6 Dec 2019, 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

6 Dec 2019, 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).

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AKR1C2 was set to Unknown