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DDG2P

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 7 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for 46XY SEX REVERSAL 3; SPERMATOGENIC FAILURE 8.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.
Panel Version: 1.131
Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.
Panel Version: 1.76
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for 46XY SEX REVERSAL 3; SPERMATOGENIC FAILURE 8.
Created: 29 Jan 2019, 12:14 p.m.
Original DDG2P rating: both DD and IF (for all listed disorders). DDG2P mode of pathogenicity for both disorders: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • SPERMATOGENIC FAILURE 8 613957
  • 46XY SEX REVERSAL 3 612965
OMIM
184757
Clinvar variants
Variants in NR5A1
Penetrance
None
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

12 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

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

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: both DD

29 Jan 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

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

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes SPERMATOGENIC FAILURE 8 613957 for gene: NR5A1

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: NR5A1 was added gene: NR5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR5A1 were set to 46XY SEX REVERSAL 3 612965 Mode of pathogenicity for gene: NR5A1 was set to Other - please provide details in the comments