Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: NR5A1

Green List (high evidence)

NR5A1 (nuclear receptor subfamily 5 group A member 1)
EnsemblGeneIds (GRCh38): ENSG00000136931
EnsemblGeneIds (GRCh37): ENSG00000136931
OMIM: 184757, Gene2Phenotype
NR5A1 is in 5 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Sex reversal may be detected when NIPS genetic results are opposite to the ultrasound gender results.

PMID:31513305. 188 variants from 238 cases. No genotype-phenotype correlation establised
Created: 19 Dec 2021, 10:55 p.m. | Last Modified: 19 Dec 2021, 10:55 p.m.
Panel Version: 0.1437

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
46, XX sex reversal 4 (MIM#617480); 46XY sex reversal 3 (MIM#612965)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 46, XX sex reversal 4 (MIM#617480)
  • 46XY sex reversal 3 (MIM#612965)
OMIM
184757
Clinvar variants
Variants in NR5A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nr5a1 has been classified as Green List (High Evidence).

20 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NR5A1 were changed from SPERMATOGENIC FAILURE 8; 46XY SEX REVERSAL 3 to 46, XX sex reversal 4 (MIM#617480); 46XY sex reversal 3 (MIM#612965)

20 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NR5A1 were set to

20 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NR5A1 was added gene: NR5A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR5A1 were set to SPERMATOGENIC FAILURE 8; 46XY SEX REVERSAL 3