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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. NR5A1
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Primary Ovarian Insufficiency_Premature Ovarian Failure

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

188 variants reported in 238 cases. No genotype-phenotype correlation established.
Created: 19 Oct 2020, 9:10 a.m. | Last Modified: 19 Oct 2020, 9:10 a.m.
Panel Version: 0.5046

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adrenocortical insufficiency, (MIM#612964); 46, XX sex reversal 4, (MIM# 617480); Premature ovarian failure 7, (MIM#612964); Spermatogenic failure 8, (MIM#613957); 46XY sex reversal 3, (MIM#612965)

Publications

Created: 19 Oct 2020, 9:10 a.m.
Last Modified: 19 Oct 2020, 9:10 a.m.
Panel version: Imported from Mendeliome panel version 0.5046

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health QLD
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Spermatogenic failure 8,613957
  • 46XY sex reversal 3,612965
  • Premature ovarian failure 7,612964
OMIM
184757
Clinvar variants
Variants in NR5A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Dec 2020, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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

11 Dec 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: NR5A1 were set to

11 Dec 2020, Gel status: 3

Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Source Genetic Health QLD was added to NR5A1. Mode of inheritance for gene NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown

17 Jun 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NR5A1 was added gene: NR5A1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NR5A1 were set to Spermatogenic failure 8,613957; 46XY sex reversal 3,612965; Premature ovarian failure 7,612964