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Research panel - Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NR5A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Adrenocortical insufficiency, 612964 (3) | Premature ovarian failure 7, 612964 (3) | Spermatogenic failure 8, 613957 (3) | 46, XX sex reversal 4, 617480 (3) | 46XY sex reversal 3, 612965 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:23 p.m.
Last Modified: 20 Feb 2020, 5:23 p.m.
Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Premature ovarian failure 7, 612964
  • 46, XX sex reversal 4, 617480
  • Spermatogenic failure 8, 613957
  • Adrenocortical insufficiency, 612964
  • 46XY sex reversal 3, 612965
OMIM
184757
Clinvar variants
Variants in NR5A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene NR5A1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene NR5A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Premature ovarian failure 7, 612964; 46, XX sex reversal 4, 617480; Spermatogenic failure 8, 613957; Adrenocortical insufficiency, 612964; 46XY sex reversal 3, 612965 for gene: NR5A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Premature ovarian failure 7, 612964; 46, XX sex reversal 4, 617480; Spermatogenic failure 8, 613957; Adrenocortical insufficiency, 612964; 46XY sex reversal 3, 612965 for gene: NR5A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Premature ovarian failure 7, 612964; 46, XX sex reversal 4, 617480; Spermatogenic failure 8, 613957; Adrenocortical insufficiency, 612964; 46XY sex reversal 3, 612965 for gene: NR5A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Premature ovarian failure 7, 612964; 46XY sex reversal 3, 612965; Spermatogenic failure 8, 613957; 46, XX sex reversal 4, 617480; Adrenocortical insufficiency, 612964 for gene: NR5A1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to NR5A1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to NR5A1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NR5A1 was added gene: NR5A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: NR5A1 was set to