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  2. Primary ovarian insufficiency
  3. NR5A1
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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.
Created: 9 Jun 2017, 3:25 p.m.

Panel version: 1.0

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

Created: 11 May 2017, 9:09 a.m.

Panel version: 0.7

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.
Created: 13 Jun 2016, 2:40 p.m.

Panel version: 0.2

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