Primary ovarian insufficiency

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 6 panels

3 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

More commonly associated with DSD/adrenal insufficiency
Created: 9 Jun 2017, 3:25 p.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as green as associated to the phenotype in OMIM; more than 3 variants reported
Created: 30 May 2017, 12:17 p.m.
Associated with phenotype in OMIM; more than 3 variants reported. Mutations in NR5A1 also described in disorders of sexual development and adrenal insufficiency
Created: 11 May 2017, 9:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature ovarian failure 7, 612964

Publications

Ellen McDonagh (Genomics England Curator)

This gene is also on The University of Chicago Genetic Services Laboratories Next Generation Sequencing Panel for Premature Ovarian Failure.
Created: 13 Jun 2016, 2:40 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • premature ovarian failure, spermatogenic failure, adenocotical insufficiecny, 46 XY sex reversal
  • 46XY sex reversal 3,612965
  • Premature ovarian failure 7,612964
  • Spermatogenic failure 8,613957
OMIM
184757
Clinvar variants
Variants in NR5A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jun 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NR5A1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Other

13 Jun 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NR5A1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen

13 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NR5A1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NR5A1 was created by ellenmcdonagh